| Cone-Rod Dystrophy 7 |
|
Color vision defect, Cone/cone-rod dystrophy, Visual impairment, Macular atrophy, Bull's eye macu... |
OMIM:603649 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... |
OMIM:608051 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Visual impairment, Macular degeneration |
OMIM:613827 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen |
OMIM:615439 |
| Doyne Honeycomb Retinal Dystrophy |
|
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... |
OMIM:136550 |
| Stargardt Disease 3 |
|
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment |
OMIM:600110 |
| Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Absent reti... |
ORPHA:75377 |
| Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... |
OMIM:608850 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... |
OMIM:153700 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... |
ORPHA:1243 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... |
OMIM:605670 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
| Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... |
ORPHA:97341 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
| Macular Degeneration, Early-Onset |
|
Reduced visual acuity, Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Retinal Cone Dystrophy 1 |
|
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... |
OMIM:180020 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Bothnia Retinal Dystrophy |
|
Visual field defect, Ring scotoma, Nyctalopia, Retinal degeneration, Macular degeneration, Color ... |
ORPHA:85128 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascular morphology, Ret... |
ORPHA:1852 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Leber Congenital Amaurosis 13 |
|
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... |
OMIM:612712 |
| Grouped Pigmentation Of The Retina |
|
Metamorphopsia, Abnormality of retinal pigmentation |
OMIM:233800 |
| Macular Degeneration, X-Linked Atrophic |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Reduced visual acuity, High hypermetropia, Retinal degeneration |
OMIM:617879 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Wagner Vitreoretinopathy |
|
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... |
OMIM:143200 |
| Blue Cone Monochromatism |
|
Photophobia, Abnormality of retinal pigmentation, Blue cone monochromacy, Corneal dystrophy, Visu... |
ORPHA:16 |
| Retinitis Pigmentosa 39 |
|
Visual field defect, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigme... |
OMIM:613809 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... |
OMIM:312700 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:1995 |
| Retinitis Pigmentosa 31 |
|
Visual field defect, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment ep... |
OMIM:609923 |
| Peripheral Cone Dystrophy |
|
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... |
OMIM:609021 |
| Retinitis Pigmentosa 37 |
|
Photophobia, Cystoid macular degeneration, Nyctalopia, Tritanomaly, Rod-cone dystrophy, Red-green... |
OMIM:611131 |
| Choroideremia |
|
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... |
OMIM:303100 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Nyctalopia, Cystoid macular edema, Constriction of peripheral visual field, ... |
ORPHA:41751 |
| Retinitis Pigmentosa 32 |
|
Photophobia, Photoreceptor layer loss on macular OCT, Nyctalopia, Retinal degeneration, Reduced v... |
OMIM:609913 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... |
OMIM:180210 |
| Cone-Rod Dystrophy 22 |
|
Photophobia, Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent ... |
OMIM:619531 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Incr... |
OMIM:204500 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Generalized hyperpigmentation, Abnormality of vision, Cataract |
ORPHA:2253 |
| X-Linked Retinoschisis |
|
Retinoschisis, Abnormality of vision, Cataract |
ORPHA:792 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Nyctalopia, Abnormal foveal morphology, Macular degeneration,... |
ORPHA:827 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Retinal degeneration, Constriction of peri... |
OMIM:600059 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... |
OMIM:618195 |
| Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect |
ORPHA:1871 |
| Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy, Progressive night blindness, Visual impairment |
ORPHA:75858 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Cone-Rod Dystrophy 13 |
|
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... |
OMIM:608194 |
| Familial Drusen |
|
Photophobia, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality o... |
ORPHA:75376 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Photophobia, Nyctalopia, Color vision defect, Reduced visual acuity, Retinal pigment epithelial m... |
OMIM:304020 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Retinitis Pigmentosa 33 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... |
OMIM:610359 |
| Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... |
OMIM:614500 |
| Achromatopsia |
|
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Color vision def... |
ORPHA:49382 |
| Retinitis Pigmentosa 47 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Myopia |
ORPHA:1574 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Visual impairment, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Visual field defect, Congenital stationary night blindness |
OMIM:610445 |
| Cone-Rod Dystrophy 11 |
|
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... |
OMIM:610381 |
| Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Macular degeneration, Constriction of perip... |
OMIM:600138 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, High hypermetropia, Abnormal choroid morphology |
ORPHA:35612 |
| Choroideremia |
|
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... |
ORPHA:180 |
| Retinitis Pigmentosa 30 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... |
OMIM:607921 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Cerebral atrophy, Reduced visual ... |
OMIM:204200 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy |
OMIM:300719 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Hypermetropia, Shallow anterior chamber, Nyctalopia, Retinal degene... |
OMIM:267760 |
| Microphthalmia, Isolated 5 |
|
Photophobia, Hypermetropia, Foveoschisis, Nyctalopia, Abnormal foveal morphology, Rod-cone dystro... |
OMIM:611040 |
| Usher Syndrome, Type Iv |
|
Ring scotoma, Nyctalopia, Retinal degeneration, Constriction of peripheral visual field, Retinal ... |
OMIM:618144 |
| Retinitis Pigmentosa 9 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Cataract,... |
OMIM:180104 |
| Retinitis Pigmentosa 4 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Cataract, Blindness |
OMIM:613731 |
| Macular Dystrophy, Vitelliform, 3 |
|
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... |
OMIM:608161 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Retinopathy, Pigmentary retinopathy, Visual loss, Neurodegeneration, Optic atro... |
OMIM:610951 |
| Retinitis Pigmentosa 40 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Cataract, Bone spicule pigm... |
OMIM:613801 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Rod-cone dystrophy, Nyctalopia, Retinal degeneration |
OMIM:615922 |
| Cone Rod Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment |
ORPHA:1872 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... |
OMIM:210370 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:2246 |
| Retinitis Pigmentosa 38 |
|
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... |
OMIM:613862 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Macular atrophy, Myopia, Visual impairment, Chorioretinal dystrophy |
ORPHA:75373 |
| Retinitis Pigmentosa 68 |
|
Visual field defect, Retinal atrophy, Nyctalopia, Rod-cone dystrophy |
OMIM:615725 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:614322 |
| Birdshot Chorioretinopathy |
|
Attenuation of retinal blood vessels, Retinal thinning, Optic disc pallor, Cataract, Macular scar... |
ORPHA:179 |
| Retinitis Pigmentosa 80 |
|
Progressive visual loss, Blindness, Macular atrophy |
OMIM:617781 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Reduced visual acuity, Visual impairment, Cataract, Retinal dystrophy |
OMIM:610156 |
| Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:619007 |
| Leber Congenital Amaurosis 2 |
|
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... |
OMIM:204100 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Microcornea, Retinal dys... |
OMIM:615147 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration, Myopia |
OMIM:311000 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
| Retinitis Pigmentosa 2 |
|
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... |
OMIM:312600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... |
OMIM:251270 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy... |
OMIM:551500 |
| Retinitis Pigmentosa 54 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... |
OMIM:613428 |
| Retinal Dystrophy And Obesity |
|
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Astigmatism, Retinal pigment epithe... |
OMIM:616188 |
| Retinitis Pigmentosa 19 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:601718 |
| Optic Atrophy 3, Autosomal Dominant |
|
Reduced visual acuity, Optic atrophy, Optic disc pallor, Cataract, Scotoma |
OMIM:165300 |
| Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
| Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:617123 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy, Constriction of ... |
OMIM:615780 |
| Retinitis Pigmentosa 61 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... |
OMIM:614180 |
| Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... |
OMIM:600852 |
| Cone Dystrophy 3 |
|
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... |
OMIM:602093 |
| Cone-Rod Dystrophy 15 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... |
OMIM:613660 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Achromatopsia 7 |
|
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... |
OMIM:616517 |
| Congenital Stationary Night Blindness |
|
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... |
ORPHA:215 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Visual impairment, Hypoplasia of the fovea |
OMIM:136520 |
| Retinal Cone Dystrophy 4 |
|
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... |
OMIM:610478 |
| Retinitis Pigmentosa 7 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... |
OMIM:608133 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Blurred vision, Macular edema, Retinal ... |
ORPHA:411527 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Retinal degeneration, Macular degeneration, Cerebral atrophy, Optic atrophy, Increased neuronal a... |
OMIM:256730 |
| Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... |
OMIM:608553 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation, Nyctalopia |
OMIM:179840 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
| Bothnia Retinal Dystrophy |
|
Nyctalopia, Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Amblyopia, Astigmatism, High myopia,... |
OMIM:300843 |
| Retinitis Pigmentosa 27 |
|
Blindness, Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary ch... |
OMIM:613750 |
| Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Nyctalopia, Macular degeneration, Reduced visual acuity, Attenuation of re... |
OMIM:618826 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
| Leber Congenital Amaurosis 15 |
|
Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of peripheral visual field, Color v... |
OMIM:613843 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Retinitis Pigmentosa 1 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180100 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Leber Congenital Amaurosis 8 |
|
High hypermetropia, Reduced visual acuity, Chorioretinal atrophy, Nummular pigmentation of the fu... |
OMIM:613835 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration, Ce... |
OMIM:256731 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Hypermetropia, Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
| Leber Congenital Amaurosis 1 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Pigmentary ... |
OMIM:204000 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field |
OMIM:616544 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Reduced visual acuity, Pigmentary retinopathy, Cataract, Visual impairment, Myopia |
OMIM:268050 |
| Retinitis Pigmentosa 92 |
|
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... |
OMIM:619614 |
| Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Posterior subcapsul... |
OMIM:617304 |
| Leber Congenital Amaurosis 4 |
|
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... |
OMIM:604393 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Retinitis Pigmentosa 28 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... |
OMIM:606068 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Hypermetropia, Paravenous chorioretinal atrophy, Vitreor... |
OMIM:172870 |
| Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nyctalopia, Bone spicule pigmentation of the retina, Nummular pigmentation... |
OMIM:618613 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Cerebella... |
OMIM:616171 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Cataract, Progressive visual loss, Visual... |
ORPHA:3156 |
| Retinitis Pigmentosa 6 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... |
OMIM:312612 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
| Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
| Oguchi Disease |
|
Congenital stationary night blindness, Rod-cone dystrophy, Diplopia, Macular degeneration, Mizuo ... |
ORPHA:75382 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Mucolipidosis Iv |
|
Photophobia, Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic at... |
OMIM:252650 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... |
OMIM:264420 |
| Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology, M... |
ORPHA:90654 |
| Retinitis Pigmentosa 51 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Macular degeneration, Reduced visual acuity, Attenua... |
OMIM:613464 |
| Retinitis Pigmentosa 3 |
|
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... |
OMIM:300029 |
| Retinitis Pigmentosa 10 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180105 |
| Cone-Rod Dystrophy 3 |
|
Color vision defect, Attenuation of retinal blood vessels, Pigmentary retinopathy, Visual loss, C... |
OMIM:604116 |
| Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Nyctalopia, Retinal degeneration |
OMIM:615982 |
| Cone-Rod Dystrophy 2 |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... |
OMIM:120970 |
| Cone-Rod Dystrophy 21 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... |
OMIM:619389 |
| Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Amblyopia, Optic disc coloboma, Cataract |
ORPHA:35737 |
| Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc morphology, Sever... |
ORPHA:65 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... |
OMIM:612572 |
| Canavan Disease |
|
Blindness, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic at... |
ORPHA:141 |
| Retinal Cone Dystrophy 3B |
|
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Astigmatism, Macular atrophy, Scotoma, Myopia |
OMIM:610356 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... |
ORPHA:99000 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field |
OMIM:520000 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:364055 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Myopia, Visual impairment, Chorioretinal dystrophy |
OMIM:600790 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... |
OMIM:617406 |
| Retinitis Pigmentosa 83 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Cystoid macular edema, R... |
OMIM:618173 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Late-Onset Retinal Degeneration |
|
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Abnormal best corrected v... |
ORPHA:67042 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Retinitis Pigmentosa 56 |
|
Visual field defect, Nuclear cataract, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Att... |
OMIM:613581 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Visual lo... |
ORPHA:171844 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
| Retinitis Punctata Albescens |
|
Photophobia, Progressive visual field defects, Absent foveal reflex, Nyctalopia, Cystoid macular ... |
ORPHA:52427 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Central retinal vessel vascular tortu... |
ORPHA:506353 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy |
OMIM:619090 |
| Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation, Myopia |
ORPHA:2743 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment, High myopia, Cataract |
OMIM:614292 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis, Myopia |
ORPHA:1259 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
| Diprosopus |
|
Abnormality of retinal pigmentation, Abnormality of vision |
ORPHA:1681 |
| Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... |
OMIM:600105 |
| Acute Zonal Occult Outer Retinopathy |
|
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... |
ORPHA:284454 |
| Retinitis Pigmentosa 66 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, P... |
OMIM:615233 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Reduced visual acuity, Tractional retinal ... |
OMIM:613310 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Abnormality of vision, Retinopathy |
ORPHA:1897 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Absent foveal reflex, Color vision defect, Reduced visual acuity, Abnormality of mac... |
OMIM:300476 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Visual loss, Cone/cone-rod dystrophy |
OMIM:304030 |
| Retinitis Pigmentosa |
|
Photophobia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atr... |
ORPHA:791 |
| Sjogren-Larsson Syndrome |
|
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Opacification of t... |
OMIM:270200 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
| Retinitis Pigmentosa 41 |
|
Nyctalopia, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Pigme... |
OMIM:612095 |
| Retinitis Pigmentosa 43 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular catar... |
OMIM:613810 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Reduced visual acuity, Microcornea, Myopia, Macular atrophy |
OMIM:602499 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... |
OMIM:605750 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Optic atrophy, Cataract, Visual i... |
ORPHA:1466 |
| Leber Congenital Amaurosis 16 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Cataract, Visual impairment |
OMIM:614186 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Nyctalopia, Retinal arteriolar constriction, Color vision defect, Retinal de... |
OMIM:193220 |
| Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... |
OMIM:602772 |
| Retinitis Pigmentosa 58 |
|
Nyctalopia, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Optic... |
OMIM:613617 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, Cataract, Vi... |
OMIM:614307 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, High myopia, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Sjögren-Larsson Syndrome |
|
Photophobia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Generalized ... |
ORPHA:816 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Bone spicule ... |
OMIM:618697 |
| Megalocornea |
|
Lens subluxation, Reduced visual acuity, Mosaic corneal dystrophy, Megalocornea, Retinal detachme... |
OMIM:309300 |
| Retinitis Pigmentosa 79 |
|
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... |
OMIM:617460 |
| Cone-Rod Dystrophy 8 |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Aplasia Cutis-Myopia Syndrome |
|
High myopia, Abnormality of retinal pigmentation |
ORPHA:1117 |
| Retinitis Pigmentosa 14 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal arteriolar const... |
OMIM:600132 |
| Retinitis Pigmentosa 72 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... |
OMIM:616469 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Progressive visual loss, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
| Congenital Glaucoma |
|
Retinal detachment, Visual loss |
ORPHA:98976 |
| Neovascular Glaucoma |
|
Photophobia, Abnormal posterior eye segment morphology, Visual acuity test abnormality, Corneal s... |
ORPHA:94058 |
| Chromosome 16Q12 Duplication Syndrome |
|
Photophobia, Nyctalopia, Tritanomaly, Retinal pigment epithelial mottling, Reduced visual acuity,... |
OMIM:619649 |
| Jalili Syndrome |
|
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Optic atrophy, Visual impa... |
ORPHA:1873 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Developmental cataract, Visual impairment, Progressive cataract, Optic nerve dysplasia |
OMIM:246000 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Narp Syndrome |
|
Blindness, Cerebral cortical atrophy, Rod-cone dystrophy, Constriction of peripheral visual field... |
ORPHA:644 |
| Idiopathic Uveal Effusion Syndrome |
|
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... |
ORPHA:209956 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, High hypermetropia, Retinal pigment epithelial mottling,... |
OMIM:145350 |
| Retinitis Pigmentosa 45 |
|
Nyctalopia, Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Pe... |
OMIM:613767 |
| Oculocutaneous Albinism Type 4 |
|
Photophobia, Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, ... |
ORPHA:79435 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration, Visual loss |
OMIM:300438 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
| Cone-Rod Dystrophy 10 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood v... |
OMIM:610283 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia |
OMIM:615960 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
| Irvan Syndrome |
|
Photophobia, Reduced visual acuity, Blurred vision, Retinal detachment, Macular edema, Optic atro... |
ORPHA:209943 |
| Myopia 28, Autosomal Recessive |
|
High myopia, Retinal detachment, Cataract |
OMIM:619781 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Heterochro... |
ORPHA:1390 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Myopia, Chorioretinal coloboma |
ORPHA:2196 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
| Retinitis Pigmentosa 49 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... |
OMIM:613756 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Redu... |
ORPHA:891 |
| Leber Congenital Amaurosis 6 |
|
Photophobia, High hypermetropia, Attenuation of retinal blood vessels, Keratoconus, Cataract, Sev... |
OMIM:613826 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Photophobia, Hemeralopia, Macular degeneration, Retinal atrophy, Visual impairment, Dyschromatopsia |
OMIM:617236 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Reduced visual acuity, Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechia... |
OMIM:616722 |
| Enhanced S-Cone Syndrome |
|
Hemeralopia, Nyctalopia, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Reti... |
OMIM:268100 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Patchy atrophy of the retinal pigmen... |
ORPHA:436245 |
| Retinitis Pigmentosa 50 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Visual loss, Retin... |
OMIM:610127 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Hypermetropia, Retinal detachment, Cataract |
OMIM:127200 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myopia, Attenua... |
OMIM:300578 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
High hypermetropia, Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuation of retinal... |
OMIM:619260 |
| Cone-Rod Dystrophy 6 |
|
Photophobia, Hemeralopia, Nyctalopia, Reduced visual acuity, Chorioretinal atrophy, Macular atrop... |
OMIM:601777 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Degeneration of the latera... |
OMIM:604360 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
| Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment, Myopia |
OMIM:157150 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... |
OMIM:615986 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Lens subluxation, Retinal detachment, Myopia, Lens coloboma |
OMIM:157151 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment |
ORPHA:1433 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Visual impairment, Nyctalopia, Rod-cone dystrophy |
OMIM:600151 |
| Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Reduced visual acuity, Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Reduced visual acuity, Posterior subcapsular cataract, Optic disc pallor, Mac... |
OMIM:615434 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
| Myopia 17, Autosomal Dominant |
|
High myopia, Presenile cataracts, Retinal hole |
OMIM:608367 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Visual impairment, ... |
ORPHA:96 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
| Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Chorioretinal hyperpigmentation, Constriction of peripheral visual field, A... |
ORPHA:414 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Cataract |
ORPHA:44 |
| Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Posterior polar cataract, Pigmentary... |
OMIM:616562 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation, Freckling, Melanocytic nevus, Blindness |
ORPHA:1573 |
| Oculocutaneous Albinism Type 1 |
|
Photophobia, Blue irides, Generalized hypopigmentation, Reduced visual acuity, Abnormality of vis... |
ORPHA:352731 |
| Refsum Disease, Classic |
|
Rod-cone dystrophy, Cataract, Nyctalopia, Retinal degeneration |
OMIM:266500 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
| Oculocutaneous Albinism Type 1B |
|
Photophobia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation ... |
ORPHA:79434 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Cataract, Cerebellar atrophy |
ORPHA:3085 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Hypermetropia, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia |
ORPHA:370022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Chorioretinal atrophy,... |
ORPHA:5 |
| Ramon Syndrome |
|
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Decreased sensory nerve conduction velocity, Attenu... |
OMIM:609033 |
| Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Amblyopia, Astigmatism, Vitreoretinopathy, Cataract, Myopia |
ORPHA:250984 |
| Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Prolonged somatosensory evoked potentials, Visua... |
OMIM:616648 |
| Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, Cerebral atrophy, Red... |
ORPHA:168491 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Visual loss, Cone/cone-rod dystrophy |
OMIM:249270 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Reduced visual acuity, Visual impairment, Retinal degeneration, Macular degeneration |
OMIM:270700 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Cerebral atrophy, Pigmentary retinopathy, Visual loss, Optic disc pallor, C... |
ORPHA:79264 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Retinopathy, Cataract |
OMIM:183800 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Abnormality of ... |
ORPHA:83461 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment |
OMIM:609508 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Reduc... |
OMIM:305390 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Corpus callosum atrophy, Retinal dystrophy, Optic atrophy, Cataract, V... |
OMIM:614877 |
| Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the iris, V... |
ORPHA:290 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Macular degeneration, Diplopia, Cataract, Cerebellar atrophy |
ORPHA:284289 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Visual impairment |
ORPHA:858 |
| Mucolipidosis Type Iv |
|
Photophobia, Retinopathy, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Reduced visual acuity, Visual impairment, Cataract, Retinal degeneration |
OMIM:615249 |
| Oculocutaneous Albinism Type 2 |
|
Photophobia, Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentat... |
ORPHA:79432 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Visual loss, Cataract, Abnormal vitreous humor morphology, Myopia |
ORPHA:90653 |
| Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... |
OMIM:615994 |
| Vogt-Koyanagi-Harada Disease |
|
Poliosis, Retinal detachment, Vitiligo, Cataract, Premature graying of hair, Visual impairment, H... |
ORPHA:3437 |
| Aniridia 2 |
|
Lens subluxation, Amblyopia, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
| Nance-Horan Syndrome |
|
Retinal detachment, Microcornea, Visual loss, Cataract, Visual impairment |
ORPHA:627 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Retinal thinning, Cataract, Asteroid hyalosis, Myopia |
OMIM:132450 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy, Myopia |
ORPHA:370968 |
| Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... |
OMIM:608380 |
| Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Myopia |
OMIM:604841 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Cerebral atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Cerebellar at... |
OMIM:268020 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Myopia |
ORPHA:1496 |
| Arthrogryposis, Distal, Type 5 |
|
Hypermetropia, Abnormality of retinal pigmentation, Astigmatism, Keratoconus, Keratoglobus |
OMIM:108145 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Visual impairment, Cataract, Progre... |
ORPHA:773 |
| Oculopharyngodistal Myopathy 3 |
|
Photophobia, Pigmentary retinopathy |
OMIM:619473 |
| Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Abnormal chorioretinal morphology, Cataract, Macular dystrophy, Visual impairment |
ORPHA:225 |
| Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
| Idiopathic Panuveitis |
|
Photophobia, Blindness, Cystoid macular edema, Reduced visual acuity, Blurred vision, Cataract, V... |
ORPHA:280921 |
| Gyrate Atrophy Of Choroid And Retina |
|
Blindness, Foveoschisis, Nyctalopia, Chorioretinal atrophy, Posterior subcapsular cataract, Visua... |
OMIM:258870 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Abnormality of visu... |
ORPHA:1215 |
| Birdshot Chorioretinopathy |
|
Vitritis, Visual impairment, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy |
OMIM:605808 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Isolated Aniridia |
|
Visual loss, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Cataract, Rod-cone dystrophy |
ORPHA:363741 |
| Retinitis Pigmentosa 23 |
|
Color vision defect, Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:300424 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract, Blindness, Myopia |
OMIM:615181 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... |
OMIM:268315 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Ring scotoma, Nyctalopia, Retinal pigment epithelial atr... |
OMIM:616959 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cataract, Rod-cone dystrophy |
OMIM:601794 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
| Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Rod-cone dystrophy, Cerebral atrophy, Neurodegeneration, Visual loss, Optic... |
ORPHA:391428 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:613819 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Reduced visual acuity, Optic disc coloboma, Iris coloboma, Ca... |
OMIM:216820 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Cerebral cortical atrophy |
ORPHA:2518 |
| Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Cataract, Myopia |
OMIM:136300 |
| Zika Virus Disease |
|
Absent foveal reflex, Lens subluxation, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis |
ORPHA:324416 |
| Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Photophobia, Retinopathy, Retinal pigment epithelial mottling, Corneal crystals |
OMIM:219900 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials, Amblyopia, Astigmatism |
OMIM:617523 |
| Usher Syndrome |
|
Visual field defect, Abnormality of retinal pigmentation, High hypermetropia, Nyctalopia, Cerebra... |
ORPHA:886 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Astigmatism |
ORPHA:1824 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Hypermetropia, Corneal opacity, Myopic astigmatism, Reduced visual acuity, Retinal detachment, Mi... |
OMIM:152950 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract, Macular degeneration |
OMIM:619780 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Cataract |
ORPHA:329314 |
| Achondrogenesis Type 2 |
|
Lens subluxation, Retinal detachment, Cataract, Abnormal vitreous humor morphology, Myopia |
ORPHA:93296 |
| Stickler Syndrome, Type V |
|
High myopia, Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Cataract, Visual impairment, Retinal dysplasia, Myopia |
ORPHA:272 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Visual impairment, Pigmentary retinopathy |
OMIM:252011 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Abnormality of ... |
ORPHA:2510 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Visual loss, Catarac... |
ORPHA:88628 |
| Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Catarac... |
ORPHA:2715 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Visual field defect, Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, ... |
ORPHA:166035 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Abnormality of retinal pigmentation, Optic atrophy, Cataract, Abnormality of per... |
ORPHA:585 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy, Myopia |
OMIM:613156 |
| Axial Spondylometaphyseal Dysplasia |
|
Photophobia, Rod-cone dystrophy, Reduced visual acuity, Peripheral retinal degeneration, Amblyopi... |
ORPHA:168549 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Brain atrophy, Cerebral atrophy, Retinal degeneration, Optic atrophy, Abnormality of vision |
ORPHA:442835 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Brain atrophy, Pigmentary retinopathy |
OMIM:619059 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Retinal degeneration |
ORPHA:542306 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Photophobia, Nuclear cataract, Nyctalopia, Retinal dystrophy, Central scotoma |
OMIM:617547 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration, Peripheral visual field loss |
ORPHA:79244 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Abnormal macular morphology, Hypo... |
ORPHA:1493 |
| Joubert Syndrome 6 |
|
Blindness, Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
| Mucolipidosis Iii Alpha/Beta |
|
Hyperopic astigmatism, Opacification of the corneal stroma, Retinal degeneration, Retinopathy |
OMIM:252600 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Congenital blindness, Retinal dystrophy, Cataract, Microcoria |
OMIM:263100 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia, Retinal degeneration |
OMIM:615630 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Reduced visual acuity, Opacificat... |
ORPHA:2334 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
| Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
| X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic nerve hypoplasia, Optic atrophy, Cataract, Visual impairment, My... |
ORPHA:163937 |
| Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Reduced visual acuity, Macular edema, Ca... |
ORPHA:279914 |
| Infantile Refsum Disease |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic atrophy, Cataract,... |
ORPHA:772 |
| Cancer-Associated Retinopathy |
|
Photophobia, Progressive visual field defects, Granular macular appearance, Diffuse cerebellar at... |
ORPHA:71505 |
| Joubert Syndrome 3 |
|
Visual impairment, Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Joubert Syndrome 9 |
|
Astigmatism, Cataract, Retinal dystrophy, Cerebral visual impairment |
OMIM:612285 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
| Oculocutaneous Albinism Type 1A |
|
Photophobia, Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentia... |
ORPHA:79431 |
| Myopia 3, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:603221 |
| Myopia 2, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:608474 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cerebral cortical atrophy, Cataract |
ORPHA:3173 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract, Myopia |
ORPHA:1856 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... |
ORPHA:2481 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Cataract, Homonymous hemianopia |
ORPHA:79095 |
| Woolly Hair |
|
Abnormal retinal morphology, Hypopigmentation of hair, Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Slow decrease in visual acuity, Color vision defect, Abnormality of visual evoked potentials, Dec... |
OMIM:601152 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Visual field defect, Bull's eye maculopathy, Nyctalopia, Retinal degeneration, Rod-cone dystrophy... |
ORPHA:157850 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Retinal... |
ORPHA:85167 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Visual loss, Iris hypopigmentation, Cataract,... |
ORPHA:85194 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy, Cat... |
OMIM:612674 |
| Mohr-Tranebjaerg Syndrome |
|
Photophobia, Absent brainstem auditory responses, Color vision defect, Abnormality of visual evok... |
ORPHA:52368 |
| Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
| Mulibrey Nanism |
|
Iris coloboma, Pigmentary retinopathy, Corneal dystrophy, Astigmatism |
OMIM:253250 |
| Knobloch Syndrome |
|
Macular degeneration, Retinal detachment, Visual loss, Vitreoretinopathy, Cataract, Abnormal vitr... |
ORPHA:1571 |
| Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
| Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Frontal cortical atrophy, Abnormality of pattern visual evoked potenti... |
ORPHA:2822 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Retinal detachment, Cataract, Myopia |
OMIM:613153 |
| Srd5A3-Cdg |
|
Spotty hyperpigmentation, Rod-cone dystrophy, Visual loss, Optic atrophy, Cataract, Optic disc hy... |
ORPHA:324737 |
| Bardet-Biedl Syndrome 1 |
|
Nyctalopia, Retinal degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retin... |
OMIM:209900 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Retinal degeneration, Nyctalopia, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Cafe-au... |
OMIM:250410 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:272200 |
| Lissencephaly 5 |
|
Optic atrophy, Cataract |
OMIM:615191 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Blindness, Pigmentary retinopathy |
OMIM:560000 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cerebral atrophy, A... |
OMIM:256600 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Hypermetropia, Brain atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Corpus c... |
OMIM:616875 |
| Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
| Spinocerebellar Ataxia Type 7 |
|
Photophobia, Hemeralopia, Cerebral atrophy, Macular degeneration, Reduced visual acuity, Visual l... |
ORPHA:94147 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials, Myopia |
ORPHA:2971 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Oculoauricular Syndrome |
|
Microphakia, Ultra-low vision with retained light perception, Rod-cone dystrophy, Retinal colobom... |
OMIM:612109 |
| Werner Syndrome |
|
Cataract, Retinal degeneration |
OMIM:277700 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Reduced visual acuity, Retinal detachment, Microcornea, Iris coloboma, Ocular anterior segment dy... |
OMIM:615145 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Cerebral atrophy, Cataract, Pigmentary retinopathy |
OMIM:222300 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling, Cataract, ... |
OMIM:610651 |
| Cohen Syndrome |
|
Chorioretinal dystrophy, Bull's eye maculopathy, Nyctalopia, Reduced visual acuity, Optic atrophy... |
OMIM:216550 |
| Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Pseudoxanthoma Elasticum |
|
Retinal peau d'orange, Macular degeneration, Reduced visual acuity, Retinal hemorrhage, Optic dis... |
OMIM:264800 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Cerebral cortical atrophy, Cataract, Cerebellar atrophy |
OMIM:617481 |
| Muscle-Eye-Brain Disease |
|
Optic atrophy, Visual impairment, Cataract, Myopia |
ORPHA:588 |
| Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Cataract, Visual impairment, Myopia |
ORPHA:2047 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, V... |
OMIM:177850 |
| Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Retinopathy, Iris coloboma, Cataract |
ORPHA:2611 |
| Antiphospholipid Syndrome, Familial |
|
Keratitis, Iritis, Blurred vision, Retinal detachment, Visual loss, Retinal vasculitis, Central r... |
OMIM:107320 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal degeneration, Buphthal... |
OMIM:253280 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Myopia, Sclerocornea, Chorioretinal colo... |
ORPHA:139471 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Diffuse cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Corpus cal... |
ORPHA:480898 |
| Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Reduced visual acuity, Retinal dystrophy, Macular atrophy, Visual impairment |
OMIM:616307 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Reduced visual acuity, Blindness, Pigmentary retinopathy |
ORPHA:3208 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Cataract |
OMIM:270800 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Papillorenal Syndrome |
|
Macular degeneration, Lens luxation, Retinal coloboma, Reduced visual acuity, Morning glory anoma... |
OMIM:120330 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Color vision defect, Morning glory anomaly, Temporal optic disc pallor, Corpus callosum atrophy, ... |
ORPHA:98673 |
| Friedreich Ataxia |
|
Visual field defect, Decreased sensory nerve conduction velocity, Reduced visual acuity, Abnormal... |
OMIM:229300 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration |
OMIM:239000 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| 4H Leukodystrophy |
|
