Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy |
OMIM:612712 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration |
OMIM:610381 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy |
OMIM:605670 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Rod-cone dystrophy |
OMIM:618220 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen |
OMIM:136550 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration |
OMIM:600977 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... |
ORPHA:827 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... |
OMIM:608161 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy |
OMIM:250450 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... |
OMIM:619007 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Retinal degeneration, Cystoid macular degeneration |
OMIM:267760 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... |
OMIM:613750 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage |
OMIM:264420 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy |
OMIM:616188 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy |
OMIM:180104 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Morm Syndrome |
|
Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... |
ORPHA:41751 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Oguchi Disease |
|
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy |
ORPHA:75382 |
Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy |
OMIM:602271 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration |
OMIM:256730 |
Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... |
OMIM:617406 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment |
OMIM:212550 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... |
OMIM:145350 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration |
OMIM:270200 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... |
OMIM:616648 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:615434 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:141 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Retinitis Pigmentosa 10 |
|
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180105 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor |
OMIM:617460 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613581 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613464 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... |
OMIM:605549 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:52427 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:204200 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy |
OMIM:616171 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma |
ORPHA:231736 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... |
OMIM:165550 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... |
ORPHA:1215 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
Poretti-Boltshauser Syndrome |
|
Retinal dystrophy, Retinal thinning, Retinal atrophy |
OMIM:615960 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... |
OMIM:615986 |
Cone-Rod Dystrophy 10 |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:610283 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... |
OMIM:120970 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... |
OMIM:256600 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:604360 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Abnormal morphology of the chor... |
ORPHA:352731 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:615994 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration |
OMIM:249270 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Morning glory anomaly, Optic disc coloboma, Remnants of the hyaloid vascu... |
OMIM:120200 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Macular degeneration |
ORPHA:816 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... |
OMIM:616959 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:96 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ma... |
OMIM:619260 |
Alg6-Cdg |
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Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... |
ORPHA:320401 |
Senior-Loken Syndrome 9 |
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Retinal dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:616629 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Optic disc pallor, Retinal degeneration, Pigmentary retinopathy |
ORPHA:79264 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Hypotrichosis With Juvenile Macular Degeneration |
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Abnormality of macular pigmentation, Macular degeneration |
ORPHA:1573 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus |
OMIM:239000 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:613819 |
Coats Disease |
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Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Retinal dystrophy, Retinal atrophy |
ORPHA:370022 |
Spastic Paraplegia 15, Autosomal Recessive |
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Retinal degeneration, Macular degeneration |
OMIM:270700 |
Refsum Disease, Classic |
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Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
Hsd10 Disease, Infantile Type |
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Optic atrophy, Retinal degeneration, Rod-cone dystrophy |
ORPHA:391428 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Corpus callosum atrop... |
OMIM:616875 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic atrophy, Cerebellar atrophy, Optic disc pallor, Abnormality of visual evoked potentials, De... |
ORPHA:485421 |
Papillorenal Syndrome |
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Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... |
OMIM:120330 |
Aceruloplasminemia |
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Retinal degeneration |
OMIM:604290 |
Pelizaeus-Merzbacher Disease |
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Optic atrophy, Abnormality of visual evoked potentials, Cerebral cortical atrophy |
ORPHA:702 |
Oculocutaneous Albinism Type 1A |
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Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... |
ORPHA:79431 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:615630 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Optic atrophy, Abnormality of visual evoked potentials, Diffuse cerebellar atrophy, Corpus callos... |
ORPHA:480898 |
Werner Syndrome |
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Retinal degeneration |
OMIM:277700 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Joubert Syndrome 6 |
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Chorioretinal coloboma, Retinal degeneration |
OMIM:610688 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Optic atrophy, Retinal degeneration |
ORPHA:442835 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... |
OMIM:231550 |
Friedreich Ataxia |
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Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrop... |
OMIM:229300 |
Axial Spondylometaphyseal Dysplasia |
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Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy |
ORPHA:168549 |
Persistent Hyperplastic Primary Vitreous |
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Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... |
ORPHA:91495 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy |
ORPHA:436245 |
Mucolipidosis Iii Alpha/Beta |
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Retinal degeneration, Retinopathy |
OMIM:252600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Retinal degeneration |
OMIM:615249 |
Pseudoxanthoma Elasticum |
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Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina... |
OMIM:264800 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Global brain atrophy, Frontal cortical atrophy, Retinal ... |
ORPHA:2714 |
Cone-Rod Dystrophy 6 |
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Macular atrophy, Cone/cone-rod dystrophy |
OMIM:601777 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Macular degeneration |
ORPHA:284289 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration |
ORPHA:542306 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Retinal degeneration, Rod-cone dystrophy |
ORPHA:166035 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Retinal degeneration |
ORPHA:168491 |
Aceruloplasminemia |
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Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
Bardet-Biedl Syndrome 1 |
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Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Hyperautofluorescent macular lesi... |
OMIM:209900 |
Pantothenate Kinase-Associated Neurodegeneration |
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Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ... |
ORPHA:157850 |
Leber Congenital Amaurosis |
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Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy |
OMIM:250410 |
Autosomal Dominant Cerebellar Ataxia |
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Macular degeneration, Retinal degeneration, Pigmentary retinopathy |
ORPHA:99 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... |
ORPHA:85167 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Retinal atrophy |
ORPHA:412057 |
Nephronophthisis 11 |
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Retinal degeneration |
OMIM:613550 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold |
OMIM:221900 |
Multiple Sulfatase Deficiency |
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Retinal degeneration |
OMIM:272200 |
Senior-Loken Syndrome 8 |
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Macular atrophy |
OMIM:616307 |
Zika Virus Disease |
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Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... |
ORPHA:448237 |
Mannosidosis, Alpha B, Lysosomal |
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Retinal degeneration |
OMIM:248500 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Optic atrophy, Retinal degeneration, Macular coloboma, Abnormality of macular pigmentation, Pigme... |
ORPHA:79282 |
Hurler Syndrome |
|
Retinal degeneration |
OMIM:607014 |
Kniest Dysplasia |
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Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det... |
ORPHA:485 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Orthostatic hypotension, Retinal degeneration |
ORPHA:2822 |
Trichothiodystrophy |
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Retinal degeneration, Macular degeneration |
ORPHA:33364 |
Cockayne Syndrome Type 3 |
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Optic disc pallor, Retinal degeneration, Retinal dystrophy, Abnormality of peripheral nerve condu... |
ORPHA:90324 |
Cancer-Associated Retinopathy |
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Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Retinal pigment epitheli... |
ORPHA:71505 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Retinal atrophy |
OMIM:236670 |
Cockayne Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Reti... |
ORPHA:191 |
Mucopolysaccharidosis Type 2 |
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Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Decreased nerve conduct... |
ORPHA:580 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:581 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Retinal atrophy |
OMIM:253280 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology, Macular degenera... |
ORPHA:247234 |
Knobloch Syndrome |
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Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration |
ORPHA:1571 |
Neurofibromatosis Type 2 |
|
Abnormality of the optic nerve, Facial palsy, Bilateral vestibular Schwannoma, Epiretinal membran... |
ORPHA:637 |
Spinocerebellar Ataxia Type 7 |
|
Abnormal fundus morphology, Cone/cone-rod dystrophy, Macular degeneration |
ORPHA:94147 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
Farber Disease |
|
Cherry red spot of the macula, Macular degeneration |
ORPHA:333 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Retinal degeneration, Pigmentary retinopathy |
OMIM:234200 |
Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology |
ORPHA:2785 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy |
ORPHA:97297 |
Alport Syndrome |
|
Retinal flecks, Macular degeneration |
ORPHA:63 |
Say-Barber-Miller Syndrome |
|
Optic atrophy, Rod-cone dystrophy, Macular degeneration |
ORPHA:3132 |
Xq21 Microdeletion Syndrome |
|
Optic atrophy, Choroideremia, Chorioretinal degeneration, Abnormal chorioretinal morphology, Reti... |
ORPHA:1435 |
Non-Specific Syndromic Intellectual Disability |
|
Papilledema, Retinal atrophy |
ORPHA:528084 |
Norrie Disease |
|
Optic atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal vitreous humor ... |
ORPHA:649 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment |
OMIM:300166 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Hypoplasia of the fovea |
OMIM:619539 |
Leber Congenital Amaurosis 6 |
|
Attenuation of retinal blood vessels |
OMIM:613826 |
Alström Syndrome |
|
Optic disc pallor, Drusen, Retinal dystrophy, Retinal pigment epithelial atrophy, Cone/cone-rod d... |
ORPHA:64 |
Meckel Syndrome |
|
Optic atrophy, Abnormal chorioretinal morphology |
ORPHA:564 |