Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... |
OMIM:603649 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment |
OMIM:600110 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment |
OMIM:126600 |
Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 42 |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... |
OMIM:612943 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Progressive visual loss |
OMIM:601780 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Macular Dystrophy, Patterned, 2 |
|
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation |
OMIM:608970 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... |
OMIM:609923 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Optic Atrophy 9 |
|
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... |
OMIM:616289 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... |
OMIM:616152 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... |
OMIM:610951 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... |
ORPHA:90050 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome |
|
Severely reduced visual acuity, Rod-cone dystrophy |
ORPHA:3011 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204500 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... |
OMIM:610381 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Senior-Loken Syndrome 6 |
|
Rod-cone dystrophy, Reduced visual acuity, Visual impairment |
OMIM:610189 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... |
OMIM:143200 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels |
OMIM:165510 |
Macular Dystrophy, Vitelliform, 4 |
|
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity |
OMIM:616151 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks |
OMIM:611809 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... |
OMIM:619382 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... |
OMIM:616394 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Macular Dystrophy, Vitelliform, 1 |
|
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Severely reduced visual acuity |
OMIM:309555 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... |
OMIM:204200 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ... |
OMIM:551500 |
Retinitis Pigmentosa 40 |
|
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:613801 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... |
ORPHA:1852 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect |
OMIM:618511 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:620102 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... |
OMIM:256730 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
Usher Syndrome, Type Iiia |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect |
OMIM:276902 |
Tritanopia |
|
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Optic Atrophy 3, Autosomal Dominant |
|
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma |
OMIM:165300 |
Usher Syndrome, Type Iid |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:611383 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment |
OMIM:616335 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme... |
OMIM:613809 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
Prolonged Electroretinal Response Suppression 2 |
|
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... |
OMIM:620344 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Leber Congenital Amaurosis 1 |
|
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... |
OMIM:204000 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... |
OMIM:614292 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... |
OMIM:614296 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia |
OMIM:618632 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect |
OMIM:610445 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration |
OMIM:615993 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Progressive visual loss, Cere... |
OMIM:256731 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation, Metamorphopsia |
OMIM:233800 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Visual impairment |
ORPHA:1995 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... |
ORPHA:644 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration |
OMIM:520000 |
Cone-Rod Dystrophy 18 |
|
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... |
OMIM:615374 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... |
ORPHA:99000 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... |
OMIM:258870 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness |
ORPHA:436182 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... |
OMIM:616732 |
Nanophthalmos 4 |
|
Hypermetropia, Reduced visual acuity, Optic disc drusen |
OMIM:615972 |
Congenital Glaucoma |
|
Visual loss, Retinal detachment |
ORPHA:98976 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Myopia, Retinal degeneration |
ORPHA:3363 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618195 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... |
OMIM:303110 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... |
OMIM:616389 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Retinitis Pigmentosa 93 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity |
OMIM:619845 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Nyctalopia, Retinal dystrophy, Reduced visual acuity |
OMIM:610156 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy, Reduced visual acuity, Cerebral atrophy |
OMIM:618770 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613810 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... |
ORPHA:414 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect |
ORPHA:1871 |
Optic Atrophy 1 |
|
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... |
OMIM:165500 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity |
OMIM:618970 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment |
OMIM:617236 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment |
OMIM:252650 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia |
OMIM:615960 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment |
OMIM:618768 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... |
ORPHA:791 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... |
ORPHA:94058 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu... |
ORPHA:506353 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... |
OMIM:615860 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment |
ORPHA:141 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... |
ORPHA:178333 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss |
OMIM:164500 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... |
OMIM:612989 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation |
ORPHA:171844 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... |
OMIM:619649 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... |
OMIM:300843 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity |
OMIM:615983 |
Hsd10 Mitochondrial Disease |
|
Visual loss, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:300438 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... |
OMIM:613835 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... |
OMIM:300578 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Sandhoff Disease |
|
Cherry red spot of the macula, Blindness |
ORPHA:796 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Oculocutaneous Albinism Type 6 |
|
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... |
ORPHA:370097 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... |
ORPHA:98890 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment |
OMIM:113750 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Retinopathy, Blindness, Optic atrophy |
ORPHA:216873 |
Optic Pathway Glioma |
|
Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect |
ORPHA:2086 |
Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... |
OMIM:610127 |
Retinitis Pigmentosa 59 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C... |
OMIM:613861 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia |
OMIM:615181 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer... |
OMIM:604360 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Reduced visual acuity, Visual impairment |
OMIM:258501 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... |
OMIM:619260 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia |
ORPHA:370022 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ... |
OMIM:609033 |
Idiopathic Uveal Effusion Syndrome |
|
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... |
ORPHA:209956 |
Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia |
ORPHA:1390 |
Severe Canavan Disease |
|
Blindness, Optic atrophy |
ORPHA:314911 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,... |
OMIM:604116 |
Idiopathic Panuveitis |
|
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... |
ORPHA:280921 |
Behr Syndrome |
|
Cerebellar atrophy, Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, ... |
OMIM:210000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... |
ORPHA:2788 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,... |
ORPHA:79264 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Reduced visual acuity |
OMIM:616722 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopa... |
OMIM:616171 |
Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... |
OMIM:618955 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration |
OMIM:270700 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Reduced visual acuity |
OMIM:613216 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... |
ORPHA:5 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity |
OMIM:619165 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... |
OMIM:125250 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy |
ORPHA:816 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia |
ORPHA:35737 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Cln3 Disease |
|
Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retin... |
ORPHA:228346 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Sarcosinemia |
|
Congenital blindness, Optic atrophy |
ORPHA:3129 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Microphthalmia, Isolated 6 |
|
High hypermetropia, Retinal fold, Amblyopia |
OMIM:613517 |
Night Blindness, Congenital Stationary, Type 2A |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment |
OMIM:300071 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy |
OMIM:617899 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal... |
ORPHA:391428 |
Refsum Disease, Classic |
|
Nyctalopia, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal... |
ORPHA:2921 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Central scotoma, Optic atrophy, Reduced visual acuity |
OMIM:615035 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Leber Congenital Amaurosis 6 |
|
Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves... |
OMIM:613826 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Visual loss, Optic atrophy, Progressive visual loss, Visual impairment |
OMIM:601338 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, High myopia |
OMIM:619781 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... |
OMIM:615994 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Blindness, Decreased nerve conduction velocity, Optic atrophy, Neurodeg... |
OMIM:245200 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity |
OMIM:300600 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... |
ORPHA:436245 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness, Optic atrophy |
OMIM:603896 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:612572 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Absent retinal pigment epithelium, Reduced visual acuity, Visual impairment |
OMIM:122430 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Rod-cone dystrophy, Reduced visual acuity |
OMIM:619082 |
Canavan Disease |
|
Blindness, Optic atrophy, Brain atrophy, Visual impairment |
OMIM:271900 |
Infantile Refsum Disease |
|
Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro... |
ORPHA:772 |
Alg6-Cdg |
|
Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... |
OMIM:618697 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... |
ORPHA:94147 |
Peroxisome Biogenesis Disorder 9B |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:614879 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Joubert Syndrome 6 |
|
Blindness, Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Cerebral atrophy, Abnormality of vision, Brain atrophy, Retinal degeneration |
ORPHA:442835 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress... |
ORPHA:886 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness |
OMIM:302700 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit... |
ORPHA:168491 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Visual impairment, Reduced visual acuity, Retinal degeneration |
OMIM:615249 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment |
ORPHA:96 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely reduced visual acuity |
ORPHA:65 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma |
OMIM:602499 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Retinal dystrophy, Reduced visual acuity |
OMIM:617175 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia, Retinal degeneration |
OMIM:615630 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Peripheral visual field loss, Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Norrie Disease |
|
Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... |
ORPHA:370091 |
Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... |
OMIM:616562 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Blindness, Reduced visual acuity |
ORPHA:3208 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Blindness, Abnormal retinal vascular morphology,... |
ORPHA:3205 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration, Diplopia |
ORPHA:284289 |
Madras Motor Neuron Disease |
|
Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment |
ORPHA:137867 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v... |
ORPHA:157850 |
Usher Syndrome Type 1 |
|
Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermetropia, C... |
ORPHA:231169 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Blindness |
OMIM:560000 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Visual field... |
OMIM:615722 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... |
ORPHA:79435 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... |
ORPHA:168549 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary... |
ORPHA:88628 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im... |
OMIM:203200 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Congenital Primary Aphakia |
|
Abnormality of vision, Retinal dysplasia |
ORPHA:83461 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Reduced visual acuity, Hypermetropia |
OMIM:616680 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Optic atrophy, Facial palsy, Visual impairment |
ORPHA:53 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ... |
ORPHA:773 |
Cach Syndrome |
|
Cerebellar atrophy, Blindness, Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degenerat... |
ORPHA:135 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia |
OMIM:300500 |
Senior-Loken Syndrome 4 |
|
Severely reduced visual acuity, Rod-cone dystrophy, Amblyopia |
OMIM:606996 |
Methanol Poisoning |
|
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision |
ORPHA:31825 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Nyctalopia, Optic atrophy |
ORPHA:99947 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Blindness, Optic atrophy, Rod-cone dystrophy, Cerebral cortical atrophy |
ORPHA:254913 |
Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... |
OMIM:216550 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Myopia, Retinal neovascularization |
OMIM:619074 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Visual field defect, Rod-cone dystrophy, Cerebral cortical atrophy, Retinal degeneration |
ORPHA:166035 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr... |
ORPHA:79263 |
Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Retinal coloboma, Reduced visual acuity |
OMIM:216820 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... |
OMIM:250410 |
Stickler Syndrome, Type I |
|
Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal... |
OMIM:108300 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy |
ORPHA:370959 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Reduced visual acuity, Cerebellar vermis atrophy |
ORPHA:466794 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss |
OMIM:226960 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Blindness, Retinal dystrophy |
ORPHA:713 |
Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment |
OMIM:616307 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali... |
ORPHA:1187 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Joubert Syndrome 35 |
|
Nyctalopia, Rod-cone dystrophy, Progressive visual loss |
OMIM:618161 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... |
OMIM:177850 |
Megalocornea |
|
Retinal detachment, Reduced visual acuity |
OMIM:309300 |
Cataract 11, Multiple Types |
|
Blindness |
OMIM:610623 |
Intermediate Uveitis |
|
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul... |
ORPHA:279914 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness |
OMIM:607674 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal visual field test, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosis fugax, ... |
ORPHA:140989 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce... |
OMIM:152950 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment |
OMIM:615145 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Blindness, Optic atrophy, Spinocerebellar atrophy |
ORPHA:95433 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... |
ORPHA:263479 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Optic atrophy, Brain atrophy |
ORPHA:3078 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Retinal dystrophy, Reduced visual acuity |
OMIM:617622 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
Usher Syndrome Type 3 |
|
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Central scotoma, Optic atrophy, Visual i... |
ORPHA:543470 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Atrophy/Degeneration affecting the ... |
ORPHA:77299 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera... |
OMIM:209900 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness |
OMIM:259710 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Blindness |
OMIM:272800 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Momo Syndrome |
|
Blindness, Retinal coloboma |
OMIM:157980 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy |
OMIM:617763 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt... |
ORPHA:401777 |
Cinca Syndrome |
|
Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment |
ORPHA:1451 |
Joubert Syndrome With Oculorenal Defect |
|
Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment |
ORPHA:2318 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Aniridia 2 |
|
Optic atrophy, Amblyopia |
OMIM:617141 |
Osteopetrosis, Autosomal Recessive 1 |
|
Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment |
OMIM:259700 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration |
OMIM:239000 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor... |
ORPHA:35069 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Cerebral atrophy... |
OMIM:615491 |
Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment |
OMIM:614378 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:272200 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Optic atrophy, Cerebral atrophy, High myopia |
OMIM:220500 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... |
OMIM:203800 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret... |
OMIM:619471 |
Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness, Optic atrophy |
OMIM:608688 |
Cherubism |
|
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M... |
OMIM:118400 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Brain atrophy |
OMIM:618225 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ... |
ORPHA:2822 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ... |
OMIM:107320 |
Knobloch Syndrome |
|
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... |
ORPHA:1571 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... |
ORPHA:206436 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Optic nerve hypoplasia |
OMIM:617914 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Visual loss, Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous ... |
ORPHA:247234 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... |
ORPHA:2526 |
Hyperostosis Cranialis Interna |
|
Reduced visual acuity, Optic atrophy, Facial palsy |
OMIM:144755 |
Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
Full Nf2-Related Schwannomatosis |
|
Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma... |
ORPHA:637 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness, Cerebral atrophy |
OMIM:250940 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy |
ORPHA:412057 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Abnormal au... |
OMIM:616683 |
Xfe Progeroid Syndrome |
|
Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels |
OMIM:610965 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Visual field defec... |
ORPHA:247691 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:236270 |
Pierson Syndrome |
|
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re... |
OMIM:236670 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment |
OMIM:617282 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:248500 |
Hermansky-Pudlak Syndrome 6 |
|
Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp... |
OMIM:614075 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
White-Sutton Syndrome |
|
Cerebellar atrophy, Myopia, Blindness, Optic atrophy, Hypermetropia, Subcortical cerebral atrophy... |
ORPHA:468678 |
Alpers-Huttenlocher Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:726 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Visual impairment, Retinal degeneration |
OMIM:618479 |
Usher Syndrome Type 2 |
|
Myopia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cerebral cort... |
ORPHA:231178 |
Gm1 Gangliosidosis |
|
Blindness, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity, Cherr... |
ORPHA:354 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Reduced visual acuity |
OMIM:620366 |
Friedreich Ataxia |
|
Optic atrophy, Reduced visual acuity, Visual field defect, Decreased sensory nerve conduction vel... |
OMIM:229300 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia |
OMIM:300076 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced... |
ORPHA:67036 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... |
ORPHA:485 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity |
OMIM:614073 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... |
ORPHA:79282 |
X-Linked Immunoneurologic Disorder |
|
Nyctalopia |
ORPHA:2571 |
Hermansky-Pudlak Syndrome 1 |
|
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness |
OMIM:203300 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Cerebral cortical atrophy |
ORPHA:3137 |
Sandhoff Disease |
|
Cherry red spot of the macula, Orthostatic hypotension, Blindness |
OMIM:268800 |
Joubert Syndrome 5 |
|
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity |
OMIM:610188 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Progressive visual loss, Rod... |
ORPHA:14 |
Cryptococcosis |
|
Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor... |
ORPHA:1546 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Blindness, Optic neuropathy |
ORPHA:2609 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu... |
OMIM:614077 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Blindness, Optic atrophy, Cherry red spot of the macula, Visual impairment, G... |
ORPHA:845 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Myopia, Optic atrophy, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromat... |
OMIM:614800 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
Posterior Polymorphous Corneal Dystrophy |
|
Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia... |
ORPHA:98973 |
Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Abnormality of vision, Cerebral cortica... |
ORPHA:2177 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Blindness |
OMIM:618731 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Blindness, Cerebral atrophy |
ORPHA:79243 |
Momo Syndrome |
|
Blindness, Chorioretinal coloboma |
ORPHA:2563 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia |
OMIM:612199 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Central ne... |
ORPHA:581 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... |
ORPHA:79098 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Reduced visual acuity, Photophobia,... |
ORPHA:79432 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Photophobia, Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity |
OMIM:618527 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov... |
ORPHA:580 |
Hurler Syndrome |
|
Neurodegeneration, Retinal degeneration |
OMIM:607014 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Blindness, Optic nerve hypoplasia, Cerebral visual impairment, Global brain atrophy |
OMIM:615574 |
Dysosteosclerosis |
|
Blindness, Facial paralysis, Optic atrophy |
OMIM:224300 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Aganglionic megacolon, Optic atrophy, Cerebral cortical atrophy |
ORPHA:847 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness |
OMIM:271250 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... |
OMIM:234200 |
Trichothiodystrophy |
|
Myopia, Photophobia, Macular degeneration, Diffuse cerebellar atrophy, Cerebral cortical atrophy,... |
ORPHA:33364 |
Osteoporosis-Pseudoglioma Syndrome |
|
Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness |
OMIM:259770 |
Adrenoleukodystrophy |
|
Visual loss, Blindness, Neurodegeneration |
OMIM:300100 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa... |
OMIM:203100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal dege... |
OMIM:253280 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Photophobia, Ocular albinism, Reduced visual acuity |
OMIM:619172 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Hypermetropia, Photoph... |
ORPHA:90324 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Reduced visual acuity, Visual impairment |
OMIM:614076 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Reduced visual acuity |
OMIM:614195 |
Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Macular hypoplasia, Reduced visual acuity |
ORPHA:2334 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Reduced visual acuity, Optic neuropathy |
ORPHA:320375 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
Pineoblastoma |
|
Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f... |
ORPHA:251909 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Blindness, Myopia |
OMIM:225400 |
Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia |
OMIM:160565 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Diffuse cerebral atrophy, Blindness |
ORPHA:79255 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Nyctalopia |
ORPHA:79301 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness, Optic nerve dysplasia, Retinal dysplasia |
OMIM:615287 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy |
OMIM:260920 |
Cockayne Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... |
ORPHA:191 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly... |
ORPHA:2556 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Reduced visual acuity |
OMIM:604229 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity |
OMIM:614074 |
Arima Syndrome |
|
Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma |
OMIM:243910 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Constriction of peripheral visua... |
OMIM:240300 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
Cystinosis, Nephropathic |
|
Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Cerebral atrophy, Photopho... |
OMIM:219800 |
Gaucher Disease, Type I |
|
Macular atrophy |
OMIM:230800 |
Gm2-Gangliosidosis, Ab Variant |
|
Blindness, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Brain atrophy |
ORPHA:333 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:91349 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Nyctalopia, Constriction of peripheral visual field, Macular atrophy |
OMIM:619418 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Blindness, Optic neuropathy |
OMIM:252010 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Nyctalopia, Optic atrophy, Cerebellar cortical atrophy |
OMIM:619321 |
Meningioma |
|
Papilledema, Blindness, Bitemporal hemianopia, Facial palsy, Slow decrease in visual acuity, Visu... |
ORPHA:2495 |
Prolactinoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:2965 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy, High myopia |
ORPHA:97297 |
Cerebrooculonasal Syndrome |
|
Blindness |
ORPHA:66625 |
Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness |
ORPHA:79107 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a... |
ORPHA:217085 |
Alport Syndrome |
|
Macular degeneration, Retinal flecks |
ORPHA:63 |
Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a... |
ORPHA:217093 |
Norrie Disease |
|
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... |
ORPHA:649 |
Stickler Syndrome |
|
Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment |
ORPHA:828 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Blindness |
OMIM:603387 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Blindness, Reduced visual acuity, Global brain atrophy |
ORPHA:139396 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness, Optic nerve compression, Abnormal optic nerve morphology |
ORPHA:79078 |
Behçet Disease |
|
Blindness, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy |
ORPHA:117 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology |
ORPHA:2785 |
Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:1806 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu... |
ORPHA:790 |
Dpagt1-Cdg |
|
Nyctalopia, Optic atrophy, Diffuse optic disc pallor, Rod-cone dystrophy, Cerebral cortical atrop... |
ORPHA:86309 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst... |
OMIM:266920 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Blindness |
OMIM:601499 |
Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia |
ORPHA:1657 |
Mccune-Albright Syndrome |
|
Blindness |
OMIM:174800 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Myopia, Amblyopia, Retinal arteriolar tortuosity, Retinal hemorrhage, Hyperme... |
OMIM:175780 |
Amoebiasis Due To Free-Living Amoebae |
|
Blindness, Facial palsy, Visual loss, Diplopia, Photophobia |
ORPHA:68 |
Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o... |
ORPHA:91347 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Blindness |
ORPHA:853 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Blindness |
OMIM:148210 |
Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness |
OMIM:158310 |
Webb-Dattani Syndrome |
|
Blindness |
OMIM:615926 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Nyctalopia, Visual impairment |
OMIM:252940 |
Weill-Marchesani Syndrome 1 |
|
Blindness, High myopia |
OMIM:277600 |
Senior-Loken Syndrome 3 |
|
Visual loss, Congenital blindness |
OMIM:606995 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Visual loss, Blindness, Amblyopia |
ORPHA:2250 |
Saul-Wilson Syndrome |
|
Nyctalopia |
OMIM:618150 |
Cogan Syndrome |
|
Photophobia, Blindness, Reduced visual acuity |
ORPHA:1467 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness, Retinal dystrophy, Cerebral cortical atrophy |
OMIM:607932 |
Plasminogen Deficiency, Type I |
|
Blindness |
OMIM:217090 |
17Q11 Microdeletion Syndrome |
|
Retinal vascular proliferation, Blindness, Abnormal choroid morphology, Progressive visual loss |
ORPHA:97685 |
Weill-Marchesani Syndrome 2 |
|
Blindness, High myopia |
OMIM:608328 |
Corneodermatoosseous Syndrome |
|
Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
Leprosy |
|
Blindness, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology |
ORPHA:548 |
Renpenning Syndrome 1 |
|
Hypermetropia, Blindness, Cerebral atrophy |
OMIM:309500 |
Microphthalmia, Syndromic 1 |
|
Blindness, Optic disc coloboma, Aganglionic megacolon, Chorioretinal coloboma |
OMIM:309800 |
Hepatoerythropoietic Porphyria |
|
Blindness |
ORPHA:95159 |
Fraser Syndrome 1 |
|
Blindness |
OMIM:219000 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... |
ORPHA:64 |
Congenital Erythropoietic Porphyria |
|
Blindness |
ORPHA:79277 |
Sarcoidosis |
|
Blindness, Facial palsy |
ORPHA:797 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Photophobia, Visual loss, Blindness |
ORPHA:95455 |
Menke-Hennekam Syndrome 1 |
|
Blindness, Hypermetropia |
OMIM:618332 |
Fraser Syndrome |
|
Blindness |
ORPHA:2052 |