Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy |
OMIM:612712 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment |
OMIM:600110 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Late-Onset Retinal Degeneration |
|
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... |
OMIM:605670 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... |
OMIM:616170 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... |
OMIM:616152 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 3 |
|
Reduced visual acuity, Rod-cone dystrophy |
OMIM:300029 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Macular atrophy, Blindness |
OMIM:617781 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... |
OMIM:153700 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... |
OMIM:600138 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Bietti Crystalline Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... |
ORPHA:41751 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... |
OMIM:608850 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... |
ORPHA:827 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Leber Congenital Amaurosis 12 |
|
Abnormality of macular pigmentation, Congenital blindness |
OMIM:610612 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
|
Central scotoma, Reduced visual acuity, Retinal nerve fiber edema, Retinal telangiectasia, Centra... |
OMIM:619382 |
Night Blindness, Congenital Stationary, Type 2A |
|
Reduced visual acuity, Visual impairment, Congenital stationary night blindness |
OMIM:300071 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Usher Syndrome, Type Iid |
|
Blindness, Rod-cone dystrophy |
OMIM:611383 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... |
OMIM:613750 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Blindness, Congenital stationary night blindness |
OMIM:616389 |
Senior-Loken Syndrome 6 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:610189 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Reduced visual acuity, Macular degeneration |
OMIM:616118 |
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome |
|
Severely reduced visual acuity, Rod-cone dystrophy |
ORPHA:3011 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... |
OMIM:603649 |
Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Macular Dystrophy, Patterned, 1 |
|
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... |
OMIM:169150 |
Macular Dystrophy, Vitelliform, 1 |
|
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... |
OMIM:153840 |
Stargardt Disease 4 |
|
Reduced visual acuity, Retinal flecks, Macular degeneration |
OMIM:603786 |
Macular Dystrophy, Vitelliform, 4 |
|
Moderately reduced visual acuity, Macular dystrophy, Vitelliform-like macular lesions, Drusen |
OMIM:616151 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Fleck Retina, Familial Benign |
|
Blindness, Retinal flecks |
OMIM:228980 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... |
ORPHA:85128 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... |
OMIM:613862 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Reduced visual acuity, Blindness |
OMIM:601553 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... |
OMIM:304020 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... |
OMIM:618697 |
Macular Degeneration, X-Linked Atrophic |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... |
OMIM:608161 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... |
OMIM:617433 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment |
OMIM:607476 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Retinopathy, Pigmentary retinopathy, Cerebr... |
OMIM:610951 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 13 |
|
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... |
OMIM:600059 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
Retinitis Pigmentosa 63 |
|
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness |
OMIM:136900 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
Blindness, Congenital stationary night blindness |
OMIM:610444 |
Night Blindness, Congenital Stationary, Type 1D |
|
Blindness, Congenital stationary night blindness |
OMIM:613830 |
Retinitis Pigmentosa 20 |
|
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... |
OMIM:613794 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... |
OMIM:604393 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 35 |
|
Blindness, Cone/cone-rod dystrophy, Nyctalopia, Rod-cone dystrophy |
OMIM:610282 |
Cone-Rod Dystrophy 12 |
|
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... |
OMIM:612657 |
Cone-Rod Dystrophy 5 |
|
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... |
OMIM:600977 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 18 |
|
Rod-cone dystrophy, Scotoma, Retinal arteriolar constriction, Progressive visual field defects, N... |
OMIM:601414 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... |
OMIM:614500 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, N... |
OMIM:616394 |
Retinal Capillary Malformation |
|
Myopia, Central fundal arteriolar microaneurysms, Subretinal exudate, Retinal capillary hemangiom... |
ORPHA:71213 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Cone-Rod Dystrophy 15 |
|
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... |
OMIM:613660 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... |
OMIM:619007 |
Choroideremia |
|
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... |
OMIM:303100 |
Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia |
OMIM:616502 |
Retinoschisis Of Fovea |
|
Foveoschisis, Hypermetropia, Macular dystrophy, Mildly reduced visual acuity, Rod-cone dystrophy,... |
OMIM:268080 |
Chromosome Xp11.3 Deletion Syndrome |
|
Nyctalopia, Blindness, Visual impairment, Rod-cone dystrophy |
OMIM:300578 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia |
OMIM:613731 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... |
OMIM:601718 |
Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... |
ORPHA:180 |
Retinal Cone Dystrophy 3A |
|
Photophobia, Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Cone/cone-rod dystrophy, Nyc... |
OMIM:610024 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... |
OMIM:613194 |
Retinitis Pigmentosa 7 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... |
OMIM:608133 |
Retinitis Pigmentosa 85 |
|
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy |
OMIM:618345 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy |
OMIM:614181 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... |
OMIM:618195 |
Nanophthalmos 4 |
|
Optic disc drusen, Reduced visual acuity, Visual impairment |
OMIM:615972 |
Cone Dystrophy 3 |
|
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... |
OMIM:602093 |
Fleck Retina Of Kandori |
|
Nyctalopia, Blindness, Retinal flecks |
OMIM:228990 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
Cone-Rod Dystrophy 13 |
|
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... |
OMIM:608194 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy |
OMIM:180104 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... |
OMIM:611131 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia |
OMIM:616079 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... |
OMIM:120970 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... |
ORPHA:1243 |
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 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy, Blindness, Severely reduced visual acuity |
OMIM:309555 |
Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... |
OMIM:616517 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
High hypermetropia, Reduced visual acuity, Retinal degeneration |
OMIM:617879 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... |
OMIM:136550 |
Temporal Arteritis |
|
Retinal arteritis, Blindness |
OMIM:187360 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Nyctalopia, Macular degeneration |
OMIM:607475 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615922 |
Tritanopia |
|
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect |
OMIM:611543 |
Cone Dystrophy 4 |
|
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment |
OMIM:613093 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Visual field defect, Cerebral visual imp... |
OMIM:615722 |
Retinitis Pigmentosa 92 |
|
Visual impairment, Paracentral scotoma, Constriction of peripheral visual field, Pigmentary retin... |
OMIM:619614 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... |
OMIM:251270 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atr... |
OMIM:619389 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... |
OMIM:617460 |
Usher Syndrome, Type Iiia |
|
Reduced visual acuity, Visual field defect, Nyctalopia, Rod-cone dystrophy |
OMIM:276902 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormal Ishihara plate test, Photophobi... |
OMIM:618977 |
Retinitis Pigmentosa 12 |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:600105 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Optic Atrophy 9 |
|
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... |
OMIM:616289 |
Retinitis Pigmentosa |
|
Abnormality of fundus pigmentation, Constriction of peripheral visual field, Nyctalopia, Rod-cone... |
OMIM:268000 |
Night Blindness, Congenital Stationary, Type 1E |
|
Myopia, Reduced visual acuity, Visual impairment, Congenital stationary night blindness |
OMIM:614565 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Exudative Vitreoretinopathy 5 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal exudat... |
OMIM:613310 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... |
OMIM:133780 |
Congenital Stationary Night Blindness |
|
Myopia, Abnormality of retinal pigmentation, Hypermetropia, Reduced visual acuity, Color vision d... |
ORPHA:215 |
Retinitis Pigmentosa 1 |
|
Myopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of peripheral v... |
OMIM:180100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Chorioretinal dysplasia, Reduced visual acuity, Visual impairment |
OMIM:616335 |
Optic Atrophy 1 |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... |
OMIM:165500 |
Retinitis Pigmentosa 60 |
|
Reduced visual acuity, Visual impairment, Rod-cone dystrophy |
OMIM:613983 |
Achromatopsia |
|
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... |
ORPHA:49382 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... |
OMIM:601813 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... |
ORPHA:411527 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Leber Congenital Amaurosis 2 |
|
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia |
OMIM:204100 |
Cone-Rod Dystrophy 20 |
|
Central scotoma, Reduced visual acuity, Constriction of peripheral visual field, Color vision def... |
OMIM:615973 |
Blue Cone Monochromacy |
|
Myopia, Blue cone monochromacy, Reduced visual acuity, Abnormality of macular pigmentation, Photo... |
OMIM:303700 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Reduced visual acuity, Scotoma |
OMIM:165300 |
Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Reduced visual acuity, Visual impairment |
OMIM:610156 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks |
OMIM:611809 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Reduced visual acuity, Rod-cone dystrophy, Congenital blind... |
OMIM:613341 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy |
OMIM:619090 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... |
OMIM:300476 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... |
ORPHA:209943 |
Jalili Syndrome |
|
Monochromacy, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:217080 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... |
OMIM:267760 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment |
OMIM:614186 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Retinal Cone Dystrophy 3B |
|
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:610356 |
Retinitis Pigmentosa 51 |
|
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... |
OMIM:613464 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Hypermetropia, Macular coloboma, Attenuation of retinal blood v... |
OMIM:608553 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... |
OMIM:305390 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:613756 |
Retinal Dystrophy And Obesity |
|
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... |
OMIM:616188 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... |
OMIM:210370 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... |
OMIM:180020 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
Cone-Rod Dystrophy 3 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... |
OMIM:604116 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Progressive visual loss, Rod-cone dystroph... |
OMIM:204200 |
Retinitis Pigmentosa 83 |
|
Vitreous floaters, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:618173 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... |
ORPHA:179 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... |
OMIM:617406 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Abnormal fundus morphology, Abnormality of the optic nerve, Rod-cone dystrophy, Attenuation of re... |
ORPHA:436274 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... |
OMIM:605549 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Morm Syndrome |
|
Retinal dystrophy, Progressive night blindness, Visual impairment, Retinal atrophy |
ORPHA:75858 |
Retinitis Pigmentosa 77 |
|
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy |
OMIM:617304 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... |
OMIM:603075 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... |
ORPHA:141 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... |
OMIM:609021 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Nyctalopia, Drusen |
OMIM:618632 |
Leber Congenital Amaurosis 15 |
|
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... |
OMIM:613843 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Exudative retinal detachment, Metamorphopsia, Visual field defect, Reduced visual a... |
ORPHA:209956 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Central scotoma, Visual... |
OMIM:616648 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Blindness |
ORPHA:2787 |
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Central scotoma, Reduced visual acuity, Visual impairment, Rod-cone dystrophy,... |
OMIM:615233 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... |
ORPHA:99000 |
Nystagmus 2, Congenital, Autosomal Dominant |
|
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment |
OMIM:164100 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Optic disc pallor, Central scotoma, Reduced visual acuity, Color vision defect, Blind-spot enlarg... |
OMIM:616732 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Leber Congenital Amaurosis 1 |
|
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia |
OMIM:204000 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration |
OMIM:610381 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Visua... |
OMIM:615147 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Progressive visual loss, Macular degeneration, Blindness |
OMIM:256730 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:180105 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... |
OMIM:303110 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613810 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor, Central scotoma, Reduced visual ac... |
OMIM:612989 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... |
ORPHA:52427 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral visual fi... |
ORPHA:414 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... |
OMIM:145350 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... |
OMIM:616468 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... |
OMIM:602772 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613581 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Vitreoretinopathy, Abnormality of the optic disc, Reduced visual acuity, Blindness, Retinal vascu... |
ORPHA:440727 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... |
ORPHA:284454 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
Sandhoff Disease |
|
Blindness, Congestive heart failure, Cherry red spot of the macula |
ORPHA:796 |
Ã…land Islands Eye Disease |
|
Myopia, Hypoplasia of the fovea, Reduced visual acuity, Hypopigmentation of the fundus, Color vis... |
ORPHA:178333 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Leber Congenital Amaurosis 11 |
|
Reduced visual acuity, Visual impairment |
OMIM:613837 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:600132 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Peripapillary atrophy, Reduced visual acuity, Rod-cone dystrophy, Constriction... |
OMIM:616469 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Rod-cone dystrophy |
OMIM:618220 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... |
OMIM:125250 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Albinism, Oculocutaneous, Type Vi |
|
Visual impairment, Photophobia, Reduced visual acuity, Hypoplasia of the fovea |
OMIM:113750 |
Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Aplasia/Hypoplasia of the macula, Reduced visual acuity, Abnormal fov... |
ORPHA:370097 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
Corneal Dystrophy, Avellino Type |
|
Reduced visual acuity, Visual impairment |
OMIM:607541 |
Cone-Rod Dystrophy 10 |
|
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... |
OMIM:610283 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Chorioretinal atrophy |
OMIM:258870 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Rod-cone dystrophy, Nyctalopia, Pigmentary retinopathy, Visual impairment |
OMIM:600151 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting,... |
OMIM:609218 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Progressive visual loss, Optic atrophy, Blindness, Visual loss |
OMIM:601338 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness |
ORPHA:436182 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Abnormal visual field test, Retinal pigment epi... |
ORPHA:644 |
Nystagmus 1, Congenital, X-Linked |
|
Mildly reduced visual acuity, Reduced visual acuity |
OMIM:310700 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:1466 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Central scotoma, Nyctalopia, Photophobia |
OMIM:617547 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... |
ORPHA:816 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Reduced visual acuity, Rod-cone dystrophy |
OMIM:615983 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy |
OMIM:268100 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Blindne... |
ORPHA:791 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Optic disc pallor, Reduced visual acuity, Retinal thinning |
OMIM:618970 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
Neovascular Glaucoma |
|
Abnormality of the optic nerve, Retinal vascular proliferation, Visual acuity test abnormality, V... |
ORPHA:94058 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Progressive visual loss, Central scotoma, Reduced visual acuity... |
ORPHA:98890 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615982 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... |
ORPHA:897 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Retinal dysplasia, Retinal detachment, Blindness |
OMIM:310600 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... |
OMIM:264420 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Abnormality of visual evoked po... |
ORPHA:96 |
Optic Pathway Glioma |
|
Optic atrophy, Reduced visual acuity, Visual field defect, Visual loss, Papilledema, Blindness |
ORPHA:2086 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... |
ORPHA:364055 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
Leber Congenital Amaurosis 8 |
|
High hypermetropia, Choriocapillaris atrophy, Reduced visual acuity, Visual impairment |
OMIM:613835 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Reduced visual acuity |
OMIM:602499 |
Myopia 22, Autosomal Dominant |
|
Myopia, Reduced visual acuity, Visual impairment |
OMIM:615420 |
Oculocutaneous Albinism, Type Viii |
|
Chorioretinal hypopigmentation, Reduced visual acuity, Hypoplasia of the fovea, Photophobia |
OMIM:619165 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment |
OMIM:212550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Night Blindness, Congenital Stationary, Type 1C |
|
Myopia, Reduced visual acuity, Congenital stationary night blindness |
OMIM:613216 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... |
ORPHA:1215 |
Keratoconus 9 |
|
Reduced visual acuity |
OMIM:617928 |
Retinal Aplasia |
|
Congenital blindness |
OMIM:179900 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Cone-Rod Dystrophy 6 |
|
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... |
OMIM:601777 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Central scotoma, Reduced visual acuity, Visual impairment |
OMIM:615035 |
Idiopathic Panuveitis |
|
Vitreous floaters, Choroidal neovascularization, Reduced visual acuity, Abnormality of vision, Vi... |
ORPHA:280921 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Retinal vascular tortuosity |
OMIM:618768 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy, Reduced visual acuity |
OMIM:618770 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Optically empty vitreous |
OMIM:609508 |
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 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy |
ORPHA:90654 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Blindness, Macular degeneration |
ORPHA:1573 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Optic atrophy, Blindness, Decreased nerve conduction vel... |
OMIM:245200 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... |
ORPHA:436245 |
Methanol Poisoning |
|
Cerebral hemorrhage, Abnormality of the optic nerve, Hypertension, Intracranial hemorrhage, Perma... |
ORPHA:31825 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Congenital blindness, Pulmonic stenosis |
ORPHA:3129 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Blindness, Retinopathy |
ORPHA:216873 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
Retinitis Pigmentosa 89 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Nyctalopia, Retinal thinning, Hypera... |
OMIM:618955 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Decreased sensory nerve conduction velocity, Bone spicule ... |
OMIM:609033 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Myopia, Abnormality of retinal pigmentation, Visual loss, Retinopath... |
ORPHA:5 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Reduced visual acuity, Visual impairment |
OMIM:258501 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Wolff-Parkinson-White syndrome, Reduced visual acuity, Visual impairment |
OMIM:614947 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Leber Congenital Amaurosis 6 |
|
High hypermetropia, Photophobia, Severely reduced visual acuity, Attenuation of retinal blood ves... |
OMIM:613826 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy |
OMIM:615434 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Osteoporosis-Pseudoglioma Syndrome |
|
Severely reduced visual acuity, Exudative vitreoretinopathy, Moderately reduced visual acuity, Ab... |
ORPHA:2788 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Brain atrophy, Pigmentary retinopathy |
OMIM:619059 |
Severe Canavan Disease |
|
Optic atrophy, Blindness |
ORPHA:314911 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
ORPHA:370968 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar atrophy |
ORPHA:3085 |
Cataract 21, Multiple Types |
|
Macular hypoplasia, Retinal detachment |
OMIM:610202 |
Hypogonadism, Male |
|
Hypospadias, Micropenis, Male hypogonadism, Testicular atrophy |
OMIM:241100 |
Infantile Refsum Disease |
|
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Constriction of peripheral visua... |
ORPHA:772 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Blindness, Myopia |
OMIM:615181 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy, Cerebral atrophy |
OMIM:268020 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment, Ataxia |
OMIM:613909 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... |
ORPHA:352731 |
Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Cognitive impairment, Progressive cerebellar ataxia, Male infert... |
ORPHA:276183 |
Night Blindness, Congenital Stationary, Type 1H |
|
Mild myopia, Hypermetropia, Nyctalopia, Photophobia |
OMIM:617024 |
Aland Island Eye Disease |
|
Myopia, Hypoplasia of the fovea, Severely reduced visual acuity |
OMIM:300600 |
Night Blindness, Congenital Stationary, Type1I |
|
Nyctalopia, Tritanomaly |
OMIM:618555 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Blurred vision, Reduced visual acuity, Visual impairment, Photophobia |
OMIM:204870 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:2518 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Abnormality of visual evoked... |
OMIM:229300 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
Pseudoxanthoma Elasticum |
|
Hypertension, Retinal hemorrhage, Renovascular hypertension, Angina pectoris, Choroidal neovascul... |
OMIM:264800 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia |
ORPHA:324416 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... |
OMIM:615986 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pigmentary retinopathy |
OMIM:606721 |
Stickler Syndrome, Type V |
|
Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy |
ORPHA:100996 |
Retinal Venous Beading |
|
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... |
OMIM:180080 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Kennedy Disease |
|
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ... |
ORPHA:481 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Retinal degeneration, Large central visual field defect, Tachycardia, Visual l... |
ORPHA:79264 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Refsum Disease, Classic |
|
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Nyctalopia, A... |
OMIM:266500 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Abnormal best corrected vi... |
ORPHA:137902 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... |
ORPHA:2481 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Blindness |
OMIM:617914 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Blindness, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy |
OMIM:613156 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Reduced visual acuity, Rod-cone dystrophy |
OMIM:619082 |
Oculocutaneous Albinism Type 5 |
|
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Phot... |
ORPHA:370091 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Glucose... |
OMIM:235200 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Constriction of peripheral visual field, Nyctalopia |
OMIM:604232 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial at... |
OMIM:616959 |
Xylosidase Deficiency |
|
Blindness |
OMIM:278900 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Leukodystrophy, Hypomyelinating, 14 |
|
Blindness |
OMIM:617899 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Blindness, Pulmonary embolism |
OMIM:614514 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, High hypermetropia, Abnormality of retinal pigmentation, Myopia, Pro... |
ORPHA:886 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
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 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Moderately reduced visual acuity, Chorioretinal coloboma, Severely reduced visual acuity, Retinal... |
ORPHA:2921 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Reduced visual acuity, Visual impairment, Absent retinal pigment epithelium |
OMIM:122430 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... |
OMIM:619313 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Optic Nerve Hypoplasia, Bilateral |
|
Morning glory anomaly, Optic nerve hypoplasia, Reduced visual acuity, Remnants of the hyaloid vas... |
OMIM:165550 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Abnormality of visual evoked potentials, Retinal degeneration, Reduced visual acuity, Vis... |
ORPHA:168491 |
Cataract 11, Multiple Types |
|
Blindness |
OMIM:610623 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Optic atrophy, Reduced visual acuity, Visual impairment |
OMIM:270500 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation |
OMIM:108145 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
OMIM:256600 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Retinal dystrophy, Hypoplasia of the retina, Congenital blindness |
OMIM:263100 |
Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Retinal dystrophy, Reduced visual acuity |
OMIM:617175 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Vici Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Cerebral cortic... |
ORPHA:1493 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Lethargy, Infertility, Amenorrhea, Hyperglycemia, Hypogonadotro... |
ORPHA:465508 |
Spinocerebellar Ataxia Type 7 |
|
Abnormal fundus morphology, Hemeralopia, Reduced visual acuity, Macular degeneration, Visual loss... |
ORPHA:94147 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness |
OMIM:607674 |
|