| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| 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, 6 |
|
Macular degeneration |
OMIM:613757 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
| Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
| Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Leber Congenital Amaurosis 13 |
|
Retinal dystrophy |
OMIM:612712 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
| Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
| Cone-Rod Dystrophy 9 |
|
Cone/cone-rod dystrophy, Visual impairment |
OMIM:612775 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
| Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| 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 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
| Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
OMIM:613144 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
| Macular Dystrophy, Patterned, 2 |
|
Foveal hyperpigmentation, Drusen |
OMIM:608970 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy |
OMIM:605670 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration |
OMIM:610381 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration, Metamorphopsia, Visual field defect, Color vision de... |
ORPHA:1243 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... |
OMIM:616170 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
| Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration |
OMIM:600977 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
| Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Retinitis Pigmentosa 3 |
|
Reduced visual acuity, Rod-cone dystrophy |
OMIM:300029 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen |
OMIM:136550 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... |
OMIM:616468 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
| Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... |
ORPHA:827 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
| Retinitis Pigmentosa 50 |
|
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
| Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... |
ORPHA:209943 |
| Night Blindness, Congenital Stationary, Type 2A |
|
Reduced visual acuity, Visual impairment, Congenital stationary night blindness |
OMIM:300071 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Retinal exudate |
OMIM:613310 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
| Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
| Macular Dystrophy, Vitelliform, 1 |
|
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... |
OMIM:153840 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... |
OMIM:204500 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... |
OMIM:616152 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Rod-cone dystrophy |
OMIM:618220 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
| Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:610189 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy |
OMIM:616188 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... |
OMIM:618144 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... |
OMIM:618697 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... |
OMIM:608161 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment |
OMIM:212550 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... |
OMIM:619007 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy |
ORPHA:90654 |
| Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy |
OMIM:180104 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
| Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
| Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
| Choroidal Dystrophy, Central Areolar 2 |
|
Photophobia, Chorioretinal atrophy |
OMIM:613105 |
| Cataract 21, Multiple Types |
|
Macular hypoplasia, Retinal detachment |
OMIM:610202 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Retinal degeneration, Cystoid macular degeneration |
OMIM:267760 |
| Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... |
OMIM:300476 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Neovascular Glaucoma |
|
Abnormality of the optic nerve, Retinal vascular proliferation, Retinal vein occlusion, Abnormal ... |
ORPHA:94058 |
| Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment |
OMIM:607476 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
| Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Retinitis Pigmentosa 63 |
|
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Abnormality of vision, Nyct... |
ORPHA:180 |
| Optic Atrophy 6 |
|
Optic atrophy, Red-green dyschromatopsia, Photophobia, Visual impairment |
OMIM:258500 |
| Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Central scotoma, Photophobia, Cone/cone-rod dystrophy, Visual impairment |
OMIM:615163 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage |
OMIM:264420 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
| Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
| Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
| Morm Syndrome |
|
Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
| Stickler Syndrome, Type V |
|
Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
| Macular Dystrophy, Patterned, 1 |
|
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... |
OMIM:169150 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... |
OMIM:613750 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma |
OMIM:615147 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
| Nanophthalmos 4 |
|
Optic disc drusen, Reduced visual acuity, Visual impairment |
OMIM:615972 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... |
OMIM:617433 |
| Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment |
OMIM:613093 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea |
OMIM:613703 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... |
ORPHA:41751 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... |
OMIM:611040 |
| Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180100 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
| Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
| Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy |
OMIM:618345 |
| Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormal Ishihara plate test, Photophobi... |
OMIM:618977 |
| Optic Atrophy 9 |
|
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... |
OMIM:616289 |
| Cone-Rod Dystrophy 20 |
|
Central scotoma, Reduced visual acuity, Constriction of peripheral visual field, Color vision def... |
OMIM:615973 |
| Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
| Retinitis Pigmentosa 60 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:613983 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment |
OMIM:127200 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
| Cone-Rod Dystrophy 12 |
|
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... |
OMIM:612657 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy |
OMIM:602271 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... |
ORPHA:215 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Chorioretinal coloboma |
ORPHA:1473 |
| Leber Congenital Amaurosis 2 |
|
Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
| Cone-Rod Dystrophy 3 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... |
OMIM:604116 |
| Oguchi Disease |
|
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy |
ORPHA:75382 |
| Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Retinitis Pigmentosa 20 |
|
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... |
OMIM:613794 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:256731 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular dege... |
OMIM:256730 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Retinal detachment |
OMIM:157151 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... |
OMIM:145350 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
| Norrie Disease |
|
Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia |
OMIM:310600 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy |
OMIM:614181 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
| Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Retinal detachment |
OMIM:184000 |
| Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Facial palsy, Retinal telangiectasia |
OMIM:158900 |
| Retinitis Pigmentosa 83 |
|
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... |
OMIM:618173 |
| Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... |
OMIM:605549 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration |
OMIM:270200 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
| Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:141 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613581 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... |
OMIM:617406 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of re... |
OMIM:608380 |
| Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Autosomal Recessive Stickler Syndrome |
|
Vitreoretinopathy, Retinal detachment |
ORPHA:250984 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Macular atrophy |
OMIM:602499 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
| Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
| Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613464 |
| Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
| Stickler Syndrome, Type Ii |
|
Abnormal vitreous humor morphology, Retinal detachment |
OMIM:604841 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613810 |
| 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 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... |
OMIM:204200 |
| Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect |
OMIM:611543 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Anemia |
ORPHA:375 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
| Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
| Stickler Syndrome Type 1 |
|
Abnormal vitreous humor morphology, Retinal detachment |
ORPHA:90653 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Optic nerve hypoplasia |
OMIM:615113 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... |
OMIM:602772 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:615434 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
| Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
| Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... |
ORPHA:816 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atrophy |
OMIM:616171 |
| Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Chorioretinal coloboma |
OMIM:617662 |
| Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... |
OMIM:120970 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... |
ORPHA:2788 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia |
OMIM:615181 |
| Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
| Antiphospholipid Syndrome, Familial |
|
Central retinal artery occlusion, Retinal detachment, Autoimmune thrombocytopenia, Retinal vascul... |
OMIM:107320 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:52427 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
| Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
| Papillorenal Syndrome |
|
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Gliosis, Optic disc coloboma,... |
OMIM:120330 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
| Poretti-Boltshauser Syndrome |
|
Retinal dystrophy, Retinal thinning, Retinal atrophy |
OMIM:615960 |
| Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy |
OMIM:268100 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment |
OMIM:613153 |
| Achondrogenesis Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment |
ORPHA:93296 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Abnormality of visual evoked potentials, Hypoplasia of the fovea, Generalized hypopi... |
ORPHA:352731 |
| Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Retinal detachment |
OMIM:223330 |
| Nance-Horan Syndrome |
|
Retinal detachment |
ORPHA:627 |
| Retinal Venous Beading |
|
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... |
OMIM:180080 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... |
ORPHA:897 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Vogt-Koyanagi-Harada Disease |
|
Retinal detachment |
ORPHA:3437 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Chorioretinal dysplasia, Chorioretinal lacunae, Retinal detachment |
OMIM:152950 |
| Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
| Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment |
ORPHA:1856 |
| Megalocornea |
|
Retinal detachment |
OMIM:309300 |
| Uveal Melanoma |
|
Abnormal fundus morphology, Retinal detachment, Vitreous hemorrhage |
ORPHA:39044 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Photophobia, Optic disc pallor |
OMIM:616079 |
| Cone-Rod Dystrophy 10 |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:610283 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... |
OMIM:610127 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Stiff Skin Syndrome |
|
Retinal detachment |
ORPHA:2833 |
| Donnai-Barrow Syndrome |
|
Retinal dystrophy, Retinal detachment |
ORPHA:2143 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:613819 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... |
ORPHA:284454 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... |
OMIM:615986 |
| Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia |
OMIM:613154 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Freckling, Abnormality of macular pigmentation, Macular degeneration, Melanocytic nevus |
ORPHA:1573 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:96 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment |
OMIM:219250 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Cerebral cortical atrophy... |
OMIM:604360 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
| Fundus Albipunctatus |
|
Retinal flecks, Nyctalopia, Fundus albipunctatus |
OMIM:136880 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment |
ORPHA:3218 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Central scotoma, Reduced visual acuity, Rod-cone dystrophy, Constriction of pe... |
OMIM:615233 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment |
OMIM:609616 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment |
ORPHA:85194 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment |
OMIM:615145 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration |
OMIM:616629 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration |
OMIM:249270 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... |
ORPHA:5 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Optic Atrophy 8 |
|
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... |
OMIM:616648 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... |
OMIM:609033 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia |
ORPHA:324416 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
| Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Pigmentary retinopathy |
ORPHA:370968 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Smith-Magenis Syndrome |
|
Retinal detachment |
OMIM:182290 |
| Knobloch Syndrome 1 |
|
Cerebellar atrophy, Vitreoretinopathy, Peripapillary atrophy, Macular hypoplasia, Retinal detachm... |
OMIM:267750 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy |
ORPHA:100996 |
| Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:615994 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... |
OMIM:616959 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Retinal detachment, Hypopigmentation of the fundus |
ORPHA:163649 |
| Leigh Syndrome |
|
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy |
OMIM:256000 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pigmentary retinopathy |
OMIM:606721 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Macular coloboma, Attenuation of retinal blood vessels, Photoph... |
OMIM:608553 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Patent ductus arteriosus |
ORPHA:290 |
| Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
| Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal dystrophy, Retinal atrophy |
ORPHA:370022 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce... |
OMIM:619260 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... |
ORPHA:2481 |
| Walker-Warburg Syndrome |
|
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... |
ORPHA:899 |
| Spondyloocular Syndrome |
|
Retinal detachment |
OMIM:605822 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
| Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus |
OMIM:239000 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Optic atrophy |
ORPHA:370959 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Macular coloboma, Retinal coloboma |
OMIM:107550 |
| Stickler Syndrome, Type I |
|
Retinal detachment, Membranous vitreous appearance |
OMIM:108300 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Pigmentary retinopathy |
OMIM:613156 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... |
ORPHA:1215 |
| Cone-Rod Dystrophy 6 |
|
Macular atrophy, Reduced visual acuity, Hemeralopia, Progressive night blindness, Peripheral visu... |
OMIM:601777 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Cerebellar atrophy, Neurodegeneration, Ne... |
OMIM:256600 |
| Oculocutaneous Albinism Type 1A |
|
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... |
ORPHA:79431 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation |
OMIM:108145 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
| Kniest Dysplasia |
|
Retinal detachment |
OMIM:156550 |
| Donnai-Barrow Syndrome |
|
Retinal dystrophy, Retinal detachment |
OMIM:222448 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment |
OMIM:607143 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Retinal degeneration, Pigmentary retinopathy, Cerebral atr... |
ORPHA:79264 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Retinal degeneration |
OMIM:610688 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Joubert Syndrome 16 |
|
Coloboma, Retinal dystrophy |
OMIM:614465 |
| Sturge-Weber Syndrome |
|
Optic atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal choroid morphol... |
ORPHA:3205 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Global brain atrophy, Retinal detachment, Frontal cortic... |
ORPHA:2714 |
| Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det... |
ORPHA:485 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone... |
ORPHA:391428 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal pigmentation, Abnormal macula... |
ORPHA:1493 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
| Night Blindness, Congenital Stationary, Type 1A |
|
Myopia, Hemeralopia, High myopia, Congenital stationary night blindness |
OMIM:310500 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... |
ORPHA:2715 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
| Oculoauricular Syndrome |
|
Chorioretinal coloboma, Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Macular hypo... |
OMIM:612109 |
| Zika Virus Disease |
|
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... |
ORPHA:448237 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment |
ORPHA:2712 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... |
ORPHA:2510 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... |
OMIM:560000 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal det... |
OMIM:308300 |
| Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia |
OMIM:615665 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Vitreoretinopathy, Retinal detachment |
OMIM:183900 |
| Knobloch Syndrome |
|
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration |
ORPHA:1571 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the retina, Rod-cone dys... |
ORPHA:88628 |
| Smith-Magenis Syndrome |
|
Retinal detachment |
ORPHA:819 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Marshall Syndrome |
|
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment |
ORPHA:560 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy |
OMIM:252600 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... |
ORPHA:168491 |
| Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Retinal degeneration |
OMIM:615249 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
| Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Retinal detachment, Retinal dysplasia |
OMIM:253800 |
| Marshall Syndrome |
|
Vitreoretinopathy, Retinal detachment |
OMIM:154780 |
| Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:585 |
| Senior-Loken Syndrome 8 |
|
Macular atrophy |
OMIM:616307 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Retinal degeneration, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Cafe-a... |
ORPHA:166035 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Brain atrophy, Retinal degeneration, Cerebral atrophy |
ORPHA:442835 |
| Oguchi Disease 1 |
|
Hemeralopia, Congenital stationary night blindness |
OMIM:258100 |
| Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... |
ORPHA:91495 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Retinal detachment |
ORPHA:521445 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment |
ORPHA:94068 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... |
ORPHA:85167 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy |
OMIM:610651 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... |
ORPHA:1969 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... |
ORPHA:2526 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
| 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 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
| Brittle Cornea Syndrome |
|
Retinal detachment |
ORPHA:90354 |
| Cohen Syndrome |
|
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... |
OMIM:216550 |
| Cysticercosis |
|
Retinal detachment, Abnormality of optic chiasm morphology, Chorioretinitis |
ORPHA:1560 |
| Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:394 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
| Incontinentia Pigmenti |
|
Retinal vascular proliferation, Retinal detachment, Eosinophilia, Abnormal chorioretinal morpholo... |
ORPHA:464 |
| Seckel Syndrome 10 |
|
Retinal detachment, Elevated hemoglobin A1c |
OMIM:617253 |
| Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
| Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc coloboma, ... |
ORPHA:50 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold |
OMIM:221900 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina... |
OMIM:264800 |
| Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy |
ORPHA:168549 |
| Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Polycythemia, Macular edema, Papilledema, Retinal detachment, Hyper... |
