| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
| Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
| 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 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
| Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
| Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
| Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:613428 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary r... |
OMIM:610951 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:614180 |
| Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
| Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
| Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613801 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:600852 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
| Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
| Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
| Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar atrophy, Optic disc pa... |
OMIM:619389 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
| Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:619090 |
| Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
| Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
| Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
| Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... |
OMIM:618195 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
| Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
| Leber Congenital Amaurosis 2 |
|
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... |
OMIM:204100 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
| Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Canavan Disease |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
| Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180100 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... |
OMIM:613835 |
| Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
| Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
| Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:612572 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:600105 |
| Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
| Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
| Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar... |
OMIM:312600 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
| Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
| Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... |
OMIM:204500 |
| Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
| Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... |
ORPHA:90050 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
| Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Cerebral atrophy, Abnormality of retinal pigmentation |
ORPHA:397951 |
| Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:204000 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
| Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613756 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
| Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... |
OMIM:616468 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exudate |
OMIM:613310 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
| Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
| Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:300029 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:614322 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
| Narp Syndrome |
|
Rod-cone dystrophy, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arter... |
ORPHA:644 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
| Sjögren-Larsson Syndrome |
|
Generalized hyperpigmentation, Macular degeneration, Retinopathy, Abnormality of retinal pigmenta... |
ORPHA:816 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1390 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
OMIM:264470 |
| Retinitis Pigmentosa 51 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu... |
OMIM:204200 |
| Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt... |
OMIM:600132 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia |
ORPHA:99000 |
| Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal macular morphology, Aganglionic megacolon, White eyelashes, W... |
ORPHA:897 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:614307 |
| Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology |
ORPHA:791 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
| Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
| Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy |
OMIM:268100 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... |
OMIM:256730 |
| Retinitis Pigmentosa 75 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617023 |
| Retinitis Pigmentosa 66 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:615233 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
| Juvenile Paget Disease |
|
Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2801 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
| Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617547 |
| Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
| Coats Disease |
|
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology |
ORPHA:190 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
| Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:605231 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
| Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... |
ORPHA:352731 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig... |
ORPHA:5 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Brain atrophy, Pigmentary retinopathy |
OMIM:619059 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:268020 |
| Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
| Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen |
OMIM:608895 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
| Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
| Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:255241 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:602271 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... |
OMIM:616648 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy |
ORPHA:100996 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:609033 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... |
OMIM:300476 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
OMIM:616562 |
| 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 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... |
OMIM:256731 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
| Neurocutaneous Melanocytosis |
|
Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Chorioreti... |
ORPHA:2481 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
| Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex |
OMIM:616517 |
| Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
| Zika Virus Disease |
|
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... |
ORPHA:448237 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
| Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy |
OMIM:300578 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
ORPHA:216866 |
| Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ... |
ORPHA:1215 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
| Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Abnormality of retinal pigmentation |
OMIM:108145 |
| Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
| Cln3 Disease |
|
Optic atrophy, Generalized cerebral atrophy/hypoplasia, Cerebellar atrophy, Bull's eye maculopath... |
ORPHA:228346 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor, Pigmentary retinop... |
ORPHA:79264 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Cerebral cortical atrophy, Abnormal macular morphology, Optic atrop... |
ORPHA:1493 |
| Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
| Micro Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of vis... |
ORPHA:2510 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ... |
ORPHA:2715 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic atrophy, Optic disc pallor |
OMIM:268315 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the ... |
ORPHA:88628 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia |
ORPHA:324416 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex |
OMIM:615147 |
| Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... |
OMIM:615994 |
| Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Retinal degeneration, Optic atrophy |
OMIM:252650 |
| Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy |
OMIM:560000 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I... |
OMIM:610127 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Cer... |
OMIM:604360 |
| Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... |
OMIM:613843 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Brain atrophy, Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenu... |
OMIM:619260 |
| Hsd10 Mitochondrial Disease |
|
Retinal degeneration, Cerebral cortical atrophy, Optic atrophy |
OMIM:300438 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
| Cataract 21, Multiple Types |
|
Macular hypoplasia, Retinal detachment |
OMIM:610202 |
| Late-Onset Retinal Degeneration |
|
Peripapillary atrophy, Iris transillumination defect, Macular degeneration, Choroidal neovascular... |
ORPHA:67042 |
| Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
| Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
| Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:585 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
| Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Cerebral atrophy, Optic atrophy |
OMIM:616211 |
| Wolfram Syndrome 1 |
|
Cerebral atrophy, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Melanocytic nevus, Abnormality of macular pigmentation |
ORPHA:1573 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Freckling, Decreased nerve conduction velocity, Cerebellar atrophy, Pigmentary ret... |
OMIM:610651 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
| Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor |
OMIM:616171 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti... |
ORPHA:1969 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cere... |
OMIM:256600 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy |
OMIM:617282 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Retinal dysplasia, Pigmentary retinopathy, Optic atrophy |
OMIM:613154 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
| Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:249270 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia |
OMIM:615113 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... |
OMIM:601152 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Optic a... |
OMIM:216550 |
| Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
| Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Corpus callosum atrophy, Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Abnormality ... |
ORPHA:168491 |
| Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
| Mepan Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Chorioreti... |
OMIM:618733 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Iris transillumination defect |
OMIM:225200 |
| Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Diffuse... |
ORPHA:391428 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Cafe-au-lait spot, Abnormality of pattern visual evoked potentials, Cerebral ... |
ORPHA:166035 |
| Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:48818 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots |
OMIM:214110 |
| Usher Syndrome |
|
Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:886 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization |
ORPHA:404451 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Neurodegeneration, Abnormality of retinal pigmentation |
OMIM:309900 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
| Cone-Rod Dystrophy 12 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:612657 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Optic disc pallor, Abnorm... |
ORPHA:485421 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Retinal degeneration, Cerebral atrophy, Brain atrophy, Optic atrophy |
ORPHA:442835 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
| Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Corpus callosum atrophy, Brain atrophy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Abno... |
OMIM:616875 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
| Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Absent brain... |
ORPHA:52368 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
ORPHA:96180 |
| Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Pallidal degeneration, B... |
ORPHA:157850 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... |
ORPHA:320401 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy |
OMIM:240300 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Corpus callosum atrophy, Optic atrophy, Diffuse cerebellar atrophy, Cerebral atrophy, Vitiligo, A... |
ORPHA:480898 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:616629 |
| Antiphospholipid Syndrome, Familial |
|
Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Vitritis |
OMIM:107320 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal ... |
ORPHA:193 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
| Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... |
OMIM:229300 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
| Werner Syndrome |
|
White forelock, Premature graying of hair, Abnormality of retinal pigmentation |
ORPHA:902 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
| Coffin-Lowry Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:192 |
| Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Hyperpigmen... |
OMIM:231550 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
| Alstrom Syndrome |
|
Pigmentary retinopathy, Cone/cone-rod dystrophy |
OMIM:203800 |
| Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Subretinal pigment epithelium hemorrh... |
ORPHA:790 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
| Aicardi Syndrome |
|
Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin... |
ORPHA:50 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Retinal degeneration,... |
ORPHA:2822 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl... |
ORPHA:2526 |
| Autosomal Dominant Cerebellar Ataxia |
|
Retinal degeneration, Macular degeneration, Pigmentary retinopathy |
ORPHA:99 |
| Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Brain atrophy, Abnormality of retinal pigmentation, Decreased distal sensory nerve action potenti... |
ORPHA:466768 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
| Norrie Disease |
|
Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy |
OMIM:310600 |
| Cockayne Syndrome Type 1 |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory responses, H... |
ORPHA:90321 |
| Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,... |
OMIM:209900 |
| Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy |
ORPHA:168549 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinal degeneration, Macular scar, Retinopathy, Angioid streaks of the fundus |
OMIM:239000 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Optic atrophy, Retinal degeneration, Cerebral degeneration, Hyperpigmentati... |
OMIM:234200 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309256 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:309263 |
| Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Brain atrophy, Iris hypopigmentation, Large clumps of pigment irreg... |
ORPHA:167 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... |
ORPHA:247691 |
| Cockayne Syndrome A |
|
Abnormality of skin pigmentation, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... |
OMIM:216400 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:277400 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy |
OMIM:252600 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration, Neurodegeneration |
ORPHA:79244 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Retinal degeneration, Cerebral atrophy, Atrophy of the spinal cord, Macular colobo... |
ORPHA:79282 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:214100 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Cerebellar atrophy, Parietal cortical atrophy, Corpus callosum atrophy |
ORPHA:412057 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Retinal degeneration, Cerebral atrophy |
OMIM:272200 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
| Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling, Conjunctival telang... |
OMIM:251260 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Brain atrophy, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Cerebellar vermis atrophy, Optic atr... |
OMIM:614866 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
ORPHA:255210 |
| Mucopolysaccharidosis Type 2 |
|
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... |
ORPHA:580 |
| Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation |
ORPHA:14 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... |
OMIM:264800 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling |
OMIM:607459 |
| Cancer-Associated Retinopathy |
|
Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V... |
ORPHA:71505 |
| Melas |
|
Cerebral cortical atrophy, Brain atrophy, Optic atrophy, Vitiligo, Pigmentary retinopathy |
ORPHA:550 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of skin pigmentation, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentatio... |
ORPHA:2556 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Corpus callosum atrophy |
OMIM:248500 |
| Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... |
OMIM:133540 |
| Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Retinal dege... |
ORPHA:191 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy |
OMIM:309801 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Abnormality of retinal pigmentation |
ORPHA:175 |
| Neurofibromatosis Type 1 |
|
Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmen... |
ORPHA:636 |
| Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi... |
ORPHA:217085 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor, ... |
ORPHA:404454 |
| Papillorenal Syndrome |
|
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... |
OMIM:120330 |
| Metachromatic Leukodystrophy, Adult Form |
|
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Abnorm... |
ORPHA:309271 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi... |
ORPHA:217093 |
| Mucopolysaccharidosis Type 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Central nervous system degeneration, Pig... |
ORPHA:581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia... |
OMIM:253280 |
| Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Hypopigm... |
ORPHA:79430 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Macular edema, Choroidal neovascularization, Abnormality of retinal pigmenta... |
ORPHA:91500 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus |
OMIM:177850 |
| Hurler Syndrome |
|
Retinal degeneration, Neurodegeneration |
OMIM:607014 |
| Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:616307 |
| Kniest Dysplasia |
|
