Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... |
OMIM:204500 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... |
OMIM:610951 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy |
OMIM:551500 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204200 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... |
OMIM:619389 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... |
OMIM:256730 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization |
OMIM:608895 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased circulating vitamin E concentration, Optic atrophy, Pigmentary retinopathy, Reduced cir... |
ORPHA:96180 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:619090 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... |
OMIM:256731 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:252650 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration, Decreased circulating vitamin E concentration |
OMIM:615558 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:300438 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:1466 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... |
OMIM:610127 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... |
OMIM:604360 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... |
ORPHA:644 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Alg6-Cdg |
|
Rod-cone dystrophy, Type I transferrin isoform profile, Retinal degeneration |
ORPHA:79320 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased circulating vitamin E concentration, Reduced circu... |
ORPHA:14 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Osteoporosis-Pseudoglioma Syndrome |
|
Low serum calcitriol, Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopat... |
ORPHA:2788 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... |
OMIM:619260 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy |
OMIM:616171 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Carpal Tunnel Syndrome 1 |
|
Reduced circulating vitamin B6 level |
OMIM:115430 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Cereb... |
ORPHA:352641 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration |
ORPHA:209902 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Low levels of vitamin B1, Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera... |
ORPHA:79264 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
Osteoporosis, Juvenile |
|
Low serum calcitriol |
OMIM:259750 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Low levels of vitamin B1, Heterochromia iridis |
ORPHA:90646 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy |
ORPHA:370968 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... |
ORPHA:391428 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Brain atrophy |
OMIM:619059 |
Chylomicron Retention Disease |
|
Abnormality of vitamin metabolism, Retinopathy |
ORPHA:71 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... |
ORPHA:309031 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy |
OMIM:268020 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration |
ORPHA:442835 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Low levels of vitamin K |
ORPHA:79095 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... |
ORPHA:168491 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hypercholanemia, Familial, 2 |
|
Low levels of vitamin D |
OMIM:619256 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:2518 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Cln3 Disease |
|
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce... |
ORPHA:228346 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cafe-au-lait spot, Cerebral ... |
ORPHA:166035 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy |
OMIM:613156 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... |
ORPHA:2510 |
Obesity Due To Sim1 Deficiency |
|
Low levels of vitamin B1, Postural hypotension with compensatory tachycardia, Abnormal autonomic ... |
ORPHA:369873 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Imerslund-Grasbeck Syndrome 1 |
|
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration |
OMIM:261100 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Diamond-Blackfan Anemia 9 |
|
Low levels of vitamin D |
OMIM:613308 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic... |
ORPHA:1493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
Shwachman-Diamond Syndrome |
|
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... |
ORPHA:811 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa... |
ORPHA:233 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Retinal pigment epithelial mottling |
OMIM:614105 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Formiminoglutamic Aciduria |
|
Increased blood folate concentration, Abnormality of folate metabolism |
ORPHA:51208 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... |
ORPHA:88628 |
Primary Sclerosing Cholangitis |
|
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... |
ORPHA:171 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... |
OMIM:601152 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration |
OMIM:239000 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:272200 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti... |
ORPHA:2822 |
Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis |
ORPHA:1764 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
High serum calcitriol, Angioid streaks of the fundus |
OMIM:211900 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Congenital Fibrosis Of Extraocular Muscles |
|
Torticollis, Cataract, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
Vitamin D-Dependent Rickets, Type 3 |
|
Low serum calcitriol, Decreased circulating calcifediol concentration |
OMIM:619073 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... |
ORPHA:157850 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... |
ORPHA:731 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy |
OMIM:222300 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy |
ORPHA:412057 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract |
OMIM:618727 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... |
OMIM:267750 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm... |
OMIM:175780 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... |
OMIM:610651 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... |
ORPHA:485421 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Generalized Eruptive Histiocytosis |
|
Spotty hyperpigmentation, Abnormal vitamin B12 level |
ORPHA:157991 |
Pernicious Anemia |
|
Malabsorption of Vitamin B12 |
OMIM:170900 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormality of vitamin D metabolism |
ORPHA:411629 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:248500 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Secondary Short Bowel Syndrome |
|
Abnormality of vitamin metabolism, Aganglionic megacolon |
ORPHA:95427 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... |
OMIM:209900 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atr... |
ORPHA:79282 |
Riboflavin Deficiency |
|
Low levels of vitamin B2 |
OMIM:615026 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Optic atrophy, Abnormal optic nerve morphology, Head tremor |
ORPHA:99949 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Optic atrophy |
OMIM:231550 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Retinitis Pigmentosa 20 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613794 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... |
ORPHA:52368 |
Bone Marrow Failure Syndrome 3 |
|
Retinal dystrophy, Decreased circulating vitamin E concentration, Hypomelanotic macule, Retinal d... |
OMIM:617052 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... |
OMIM:616875 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... |
ORPHA:649 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Pigmentary retino... |
OMIM:277400 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials... |
ORPHA:480898 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... |
OMIM:601455 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... |
OMIM:618733 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral... |
OMIM:234200 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula... |
ORPHA:94147 |
Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of amino acid... |
ORPHA:394 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Bile Acid Malabsorption, Primary, 2 |
|
Low levels of vitamin D, Decreased circulating vitamin E concentration |
OMIM:619481 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Intrinsic Factor Deficiency |
|
Malabsorption of Vitamin B12, Vitamin B12 deficiency |
OMIM:261000 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Maxillonasal Dysplasia |
|
Low levels of vitamin K |
ORPHA:1248 |
Diarrhea 6 |
|
Vitamin B12 deficiency |
OMIM:614616 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:886 |
Marchiafava-Bignami Disease |
|
Low levels of vitamin B1, Facial palsy |
ORPHA:221074 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Hurler Syndrome |
|
Neurodegeneration, Retinal degeneration |
OMIM:607014 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Abnormality of vitamin metabolism |
ORPHA:79302 |
Imerslund-Grasbeck Syndrome 2 |
|
Vitamin B12 deficiency |
OMIM:618882 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... |
OMIM:253280 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract |
OMIM:620327 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy |
ORPHA:192 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Primary Intestinal Lymphangiectasia |
|
Low levels of vitamin D, Abnormality of vitamin metabolism |
ORPHA:90362 |
Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock |
ORPHA:902 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Serotonin Syndrome |
|
Tremor, Mydriasis |
ORPHA:43116 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309256 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... |
ORPHA:193 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Low levels of vitamin... |
ORPHA:581 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Cerebral cortical atrophy, Cerebral atrophy, Decreased methylcobalamin |
OMIM:236270 |
Lead Poisoning |
|
Abnormality of the autonomic nervous system, Low levels of vitamin D, Abnormality of vitamin D me... |
ORPHA:330015 |
Hypercholanemia, Familial 1 |
|
Low levels of vitamin K |
OMIM:607748 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Low levels of vitamin K |
ORPHA:565899 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309263 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia |
OMIM:236670 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Trichothiodystrophy |
|
Macular degeneration, Numerous pigmented freckles, Diffuse cerebellar atrophy, Cerebral cortical ... |
ORPHA:33364 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... |
ORPHA:90324 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy |
OMIM:203800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Gaucher Disease, Type I |
|
Macular atrophy, Hyperpigmentation of the skin |
OMIM:230800 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Low levels of vitamin D |
OMIM:617308 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... |
ORPHA:534 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
ORPHA:1556 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Cerebral atrophy, Decreased methylcobalamin |
OMIM:250940 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Late-Infantile/Juvenile Krabbe Disease |
|
Abnormality of visual evoked potentials, Prolonged brainstem auditory evoked potentials, Decrease... |
ORPHA:206443 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... |
ORPHA:466768 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Classic Galactosemia |
|
Low levels of vitamin D |
ORPHA:79239 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv... |
ORPHA:167 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... |
ORPHA:580 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... |
ORPHA:90321 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Cockayne Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... |
ORPHA:191 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration, Cerebr... |
OMIM:613839 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Folate Malabsorption, Hereditary |
|
Reduced blood folate concentration |
OMIM:229050 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration |
OMIM:214950 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Decreased circulating vitamin E concentration, Abnormality of central somatos... |
OMIM:277460 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:214100 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Brain atrophy |
ORPHA:333 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath... |
OMIM:614866 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Mydriasis |
OMIM:613834 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Celiac Disease, Susceptibility To, 1 |
|
Vitamin B12 deficiency, Low levels of vitamin D, Reduced blood folate concentration, Low levels o... |
OMIM:212750 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
High serum calcitriol |
OMIM:600785 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Cerebral atrophy, Decreased methylcobalamin |
OMIM:614857 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy, Brain atrophy |
ORPHA:505248 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Abnormal vitamin B12 level |
ORPHA:544503 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
High serum calcitriol, High serum calcifediol |
OMIM:241530 |
Alternating Hemiplegia Of Childhood |
|
Tremor, Dystonia, Choreoathetosis, Mydriasis |
ORPHA:2131 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Reduced blood folate concentration, Optic nerve hypoplasia, Global brain atrophy |
OMIM:301056 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... |
ORPHA:309271 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Low levels of vitamin D, Abnormal protein O-linked glycosylation |
OMIM:618885 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Low serum calcitriol, Decreased circulating calcifediol concentration |
OMIM:264700 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral... |
OMIM:133540 |
Hyperprolinemia Type 2 |
|
Reduced circulating vitamin B6 level |
ORPHA:79101 |
Melas |
|
Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo |
ORPHA:550 |
Epidermal Nevus Syndrome |
|
Atrophy of the spinal cord, Low levels of vitamin D, Hypopigmentation of the skin, Hyperpigmentat... |
ORPHA:35125 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... |
ORPHA:2556 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Mydriasis |
OMIM:259720 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Alport Syndrome |
|
Macular degeneration, Retinal flecks |
ORPHA:63 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Cherry red spot of the macula, Lar... |
ORPHA:845 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Decreased circulating calcifediol concentration |
OMIM:600081 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon |
ORPHA:175 |
Mogs-Cdg |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord |
OMIM:607459 |
Nijmegen Breakage Syndrome |
|
Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration, Progressive vitiligo |
OMIM:251260 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Low levels of vitamin D |
ORPHA:89937 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy |
ORPHA:97297 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... |
ORPHA:404454 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology |
ORPHA:2785 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Abnormality of vitamin D metabolism |
ORPHA:541423 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217085 |
Vitamin D-Dependent Rickets, Type 2A |
|
High serum calcitriol |
OMIM:277440 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217093 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Decreased adenosylcobalamin, Cerebral cortical atrophy, Decreased methylc... |
OMIM:277410 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Decreased circulating vitamin E concentration |
ORPHA:79303 |
Fanconi Renotubular Syndrome 2 |
|
High serum calcitriol |
OMIM:613388 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
High serum calcitriol |
ORPHA:157215 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis |
OMIM:619727 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy |
OMIM:309801 |
Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... |
ORPHA:79474 |
Refractory Celiac Disease |
|
Low serum calcitriol |
ORPHA:398063 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
Adrenomyeloneuropathy |
|
Vitamin B12 deficiency, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the s... |
ORPHA:139399 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Imerslund-Gräsbeck Syndrome |
|
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level |
ORPHA:35858 |
Cocaine Intoxication |
|
Tremor, Mydriasis |
ORPHA:90068 |
Dietary Iron Overload Disease |
|
Low levels of vitamin C |
ORPHA:139507 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retin... |
OMIM:219800 |
Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Microcornea, Ectopia pupillae, ... |
ORPHA:261552 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Decreased methylcobalamin |
OMIM:617780 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
High serum calcitriol |
OMIM:300554 |
Pearson Syndrome |
|
Malabsorption of Vitamin B12, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the... |
ORPHA:699 |
Diamond-Blackfan Anemia 7 |
|
Low levels of vitamin D |
OMIM:612562 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl... |
OMIM:266920 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin |
OMIM:251100 |
Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma |
OMIM:235730 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... |
ORPHA:909 |
Dent Disease 1 |
|
High serum calcitriol |
OMIM:300009 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Low serum calcitriol |
ORPHA:289157 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... |
ORPHA:744 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
High serum calcitriol |
OMIM:617994 |
Eiken Syndrome |
|
Low levels of vitamin D |
OMIM:600002 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin |
ORPHA:79284 |
Scorpion Envenomation |
|
Tremor, Mydriasis |
ORPHA:466677 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Irregular hyperpigmentation, Low levels of vitamin D |
ORPHA:89842 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Autosomal Recessive Hypophosphatemic Rickets |
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Low serum calcitriol, Abnormality of vitamin D metabolism |
ORPHA:289176 |
Witteveen-Kolk Syndrome |
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Anisocoria, Cataract, Iris coloboma |
OMIM:613406 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin |
OMIM:277380 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Low levels of vitamin D, Abnormality of vitamin metabolism |
ORPHA:79408 |
Oculodentodigital Dysplasia |
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Microcornea, Cataract, Optic atrophy, Abnormality iris morphology |
ORPHA:2710 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism |
ORPHA:309854 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:512 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Cerebellar atrophy, Vitamin B12 deficiency, Hippocampal atrophy, Cerebral atrophy |
OMIM:618922 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Mydriasis |
OMIM:619351 |
Hardikar Syndrome |
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Pigmentary retinopathy |
OMIM:301068 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Low levels of vitamin D |
ORPHA:438213 |
Methylmalonic Aciduria, Cblb Type |
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Methylmalonic acidemia, Decreased adenosylcobalamin |
OMIM:251110 |
Megaloblastic Anemia, Folate-Responsive |
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Vitamin B12 deficiency |
OMIM:601775 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Low levels of vitamin K |
OMIM:118650 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
Transcobalamin Ii Deficiency |
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Abnormal blood folate concentration |
OMIM:275350 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
Sponastrime Dysplasia |
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Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Dent Disease |
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High serum calcitriol |
ORPHA:1652 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Multiple Myeloma |
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Abnormality of vitamin B12 metabolism |
ORPHA:29073 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Low levels of vitamin D, Cerebral atrophy |
OMIM:613658 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Low levels of vitamin D |
ORPHA:79259 |
Wiedemann-Rautenstrauch Syndrome |
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Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia |
ORPHA:3455 |
Juvenile Nephropathic Cystinosis |
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Low levels of vitamin D |
ORPHA:411634 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials |
OMIM:203700 |
Congenital Erythropoietic Porphyria |
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Low levels of vitamin D, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:79277 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Vitamin B12 deficiency, Abnormal autonomic nervous system physiology, Au... |
ORPHA:139417 |
Autosomal Dominant Cutis Laxa |
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Low levels of vitamin D |
ORPHA:90348 |
Plague |
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Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal vitamin B12 level |
ORPHA:3261 |
Liver Disease, Severe Congenital |
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Low levels of vitamin D, Decreased circulating vitamin E concentration |
OMIM:619991 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormality iris morphology |
ORPHA:91387 |
Degcags Syndrome |
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Hypopigmentation of hair, Abnormality of skin pigmentation, Premature graying of hair, Reduced bl... |
OMIM:619488 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response |
OMIM:619522 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... |
ORPHA:64 |