Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment |
OMIM:126600 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... |
OMIM:603649 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity |
OMIM:617111 |
Stargardt Disease 3 |
|
Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment, Macular flecks |
OMIM:600110 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cone-Rod Dystrophy 9 |
|
Cone/cone-rod dystrophy, Visual impairment |
OMIM:612775 |
Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Large central visual field defect, Retinal atrophy, Retinal pigment epithelial atrophy... |
ORPHA:59181 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Vis... |
OMIM:609923 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Central scotoma, Retinal pigment epithelial mottling, Reduced visual acu... |
OMIM:600977 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Blindness, Retinal atrophy, Retinal dystrophy, Nyctalopi... |
OMIM:180210 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Visual loss, Nyc... |
ORPHA:75377 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Peripheral Cone Dystrophy |
|
Pericentral scotoma, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration,... |
OMIM:609021 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Ring scotoma, Const... |
OMIM:616544 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
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, Macular atrophy, Peripheral retinal a... |
OMIM:613862 |
Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macul... |
OMIM:620342 |
Bothnia Retinal Dystrophy |
|
Large central visual field defect, Ring scotoma, Bone spicule pigmentation of the retina, Retinal... |
ORPHA:85128 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Blindness, Constriction of peripheral visual field, Bone spicule pigmentation ... |
OMIM:600138 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity, Hypermetropia |
OMIM:611809 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... |
OMIM:613660 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Chorioretinal ... |
OMIM:143200 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... |
OMIM:618144 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Reduced visual acuity, Absent foveal r... |
OMIM:616517 |
Bietti Crystalline Dystrophy |
|
Blindness, Constriction of peripheral visual field, Large central visual field defect, Retinal pi... |
ORPHA:41751 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal pigment... |
OMIM:619007 |
Retinitis Pigmentosa 4 |
|
Blindness, Retinal atrophy, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:601718 |
Retinitis Pigmentosa 27 |
|
Blindness, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macu... |
OMIM:613750 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration |
OMIM:601780 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Metamorphopsia, Peripapillary chorioretinal ... |
ORPHA:75376 |
Retinitis Pigmentosa 80 |
|
Blindness, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Central scotoma... |
ORPHA:827 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Attenuation of retinal blood vessels, Retinal pigment epithelial... |
ORPHA:49382 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Exudative vitreoretinopathy, Retinal hole, Retinal fol... |
OMIM:605750 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation, Metamorphopsia |
OMIM:233800 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:614500 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Myopia, Chorioretinal dystrophy, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... |
ORPHA:1852 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal atrophy... |
OMIM:617304 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Blindness, Metamorphopsia, Constriction of peripheral visual field, Reti... |
OMIM:120970 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Scintillating s... |
ORPHA:97341 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Lattice retinal degeneration, Vitreous floaters... |
OMIM:614292 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Abnormality of vision, Retinal nonattachment, Vitelliform-like macular lesio... |
ORPHA:99000 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Retinitis Pigmentosa 23 |
|
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Retinal pigment ep... |
OMIM:300424 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Cho... |
ORPHA:179 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613983 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment |
OMIM:617236 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Reduced visual acuity, Absent foveal r... |
OMIM:615147 |
Leber Congenital Amaurosis 9 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:608553 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Progressive visual loss, Retinal degeneration |
OMIM:204500 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Central scotoma, Nyctalopia, Progressive visual field defects, ... |
ORPHA:52427 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R... |
OMIM:204200 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment, High myopia |
OMIM:160700 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Myopia, Blindness, Constriction of peripheral visual field, Retinal atro... |
OMIM:617406 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Myopia, Retinal detachment, Optic disc pallor, Central scotoma, Reduced ... |
OMIM:300476 |
Congenital Glaucoma |
|
Retinal detachment, Visual loss |
ORPHA:98976 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Retinopathy Of Prematurity |
|
Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascular morphology, Abnormal macular ... |
ORPHA:90050 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Red-green ... |
ORPHA:67042 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618195 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Scotoma, Mac... |
OMIM:217080 |
Leber Congenital Amaurosis 15 |
|
Attenuation of retinal blood vessels, Myopia, Optic disc pallor, Constriction of peripheral visua... |
OMIM:613843 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration |
OMIM:256730 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Exudative Vitreoretinopathy 6 |
|
Myopia, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, High myopia |
OMIM:619781 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration |
OMIM:615993 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration |
OMIM:520000 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia |
OMIM:615960 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Subretinal exudate, Peripheral retinal avascularization, Peripheral vitreous ... |
OMIM:305390 |
Macular Degeneration, Age-Related, 3 |
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Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:608895 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
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Retinal atrophy, Reduced visual acuity |
OMIM:616722 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... |
OMIM:618697 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
Spondylometaphyseal Dysplasia, Axial |
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Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Exudative Vitreoretinopathy 4 |
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Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
Oliver-Mcfarlane Syndrome |
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Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Progressive visual loss, Retinal degeneration |
OMIM:256731 |
Mucolipidosis Iv |
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Photophobia, Retinal degeneration, Optic atrophy, Visual impairment |
OMIM:252650 |
Spinocerebellar Ataxia 7 |
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Macular degeneration, Pigmentary retinopathy, Optic atrophy, Progressive visual loss |
OMIM:164500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Myopia, Optic disc pallor, Ring scotoma, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... |
OMIM:616959 |
Bardet-Biedl Syndrome 2 |
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Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia |
ORPHA:370022 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, High myopia, High hyper... |
OMIM:619260 |
Hsd10 Mitochondrial Disease |
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Visual loss, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Abetalipoproteinemia |
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Retinopathy, Retinal degeneration |
OMIM:200100 |
Morning Glory Disc Anomaly |
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Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia |
ORPHA:35737 |
Sjögren-Larsson Syndrome |
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Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy |
ORPHA:816 |
Spastic Paraplegia 11, Autosomal Recessive |
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Macular degeneration, Retinal degeneration, Visual impairment |
OMIM:604360 |
Hypotrichosis With Juvenile Macular Degeneration |
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Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Optic disc pallor, Macular atrophy, Optic atrophy, Retinopathy, Visual impairment |
OMIM:616171 |
Spastic Paraplegia 15, Autosomal Recessive |
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Macular degeneration, Retinal degeneration, Reduced visual acuity, Visual impairment |
OMIM:270700 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... |
ORPHA:79264 |
Bardet-Biedl Syndrome 17 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... |
OMIM:615994 |
Bardet-Biedl Syndrome 9 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Visual loss, Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Constriction of peripheral visual field, Retinal atrophy, Photopsia, Retinal p... |
ORPHA:71505 |
Macrophthalmia, Colobomatous, With Microcornea |
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Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma |
OMIM:602499 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Optic disc pallor, Rod-cone dystrophy, Reduced visual acuity, Macular atrophy |
OMIM:615434 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
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Retinal degeneration |
OMIM:616896 |
Developmental And Epileptic Encephalopathy 28 |
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Optic atrophy, Retinal degeneration |
OMIM:616211 |
Congenital Primary Aphakia |
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Abnormality of vision, Retinal dysplasia |
ORPHA:83461 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... |
ORPHA:436245 |
Hsd10 Disease, Infantile Type |
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Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
ORPHA:391428 |
Choroidal Atrophy-Alopecia Syndrome |
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Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Visual imp... |
ORPHA:1433 |
Refsum Disease, Classic |
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Nyctalopia, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Alg6-Cdg |
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Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
Axial Spondylometaphyseal Dysplasia |
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Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... |
ORPHA:168549 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Abnormality of vision, Optic atrophy, Retinal degeneration |
ORPHA:442835 |
Hypobetalipoproteinemia, Familial, 1 |
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Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Senior-Loken Syndrome 8 |
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Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment |
OMIM:616307 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Pantothenate Kinase-Associated Neurodegeneration |
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Blindness, Bull's eye maculopathy, Rod-cone dystrophy, Nyctalopia, Optic atrophy, Peripheral visu... |
ORPHA:157850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Retinal degeneration, Reduced visual acuity, Visual impairment |
OMIM:615249 |
Coats Disease |
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Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Joubert Syndrome 6 |
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Blindness, Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Pseudoxanthoma Elasticum |
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Choroidal neovascularization, Retinal hemorrhage, Reduced visual acuity, Angioid streaks of the f... |
OMIM:264800 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myopia, Blindness, Visual loss, Reduced visual acuity, Retinal degeneration |
ORPHA:168491 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Nyctalopia, Retinal degeneration |
OMIM:615630 |
Senior-Loken Syndrome 9 |
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Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Myopia, Retinal hemorrhage, Reduced visual acuity, Angioid streaks of the fundus, Macular degener... |
OMIM:177850 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Spinocerebellar Ataxia Type 7 |
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Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... |
ORPHA:94147 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Macular degeneration, Diplopia |
ORPHA:284289 |
Aceruloplasminemia |
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Retinal degeneration |
OMIM:604290 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Visual field defect |
ORPHA:166035 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... |
OMIM:250410 |
Bardet-Biedl Syndrome 1 |
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Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular ... |
OMIM:209900 |
Pyruvate Dehydrogenase E2 Deficiency |
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Retinal degeneration, Peripheral visual field loss |
ORPHA:79244 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration |
OMIM:239000 |
Papillorenal Syndrome |
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Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Knobloch Syndrome |
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Myopia, Retinal detachment, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... |
ORPHA:1571 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Mucolipidosis Iii Alpha/Beta |
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Retinopathy, Retinal degeneration |
OMIM:252600 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration |
ORPHA:542306 |
Aceruloplasminemia |
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Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Macular degeneration |
OMIM:619780 |
Kniest Dysplasia |
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Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... |
ORPHA:485 |
Nephronophthisis 11 |
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Retinal degeneration |
OMIM:613550 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Retinal atrophy |
ORPHA:412057 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Vis... |
ORPHA:79282 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Retinal detachment, Myopia, Blindness, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Re... |
OMIM:236670 |
Mucopolysaccharidosis Type 3 |
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Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Pigmentary... |
ORPHA:581 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Retinal degeneration, Visual impairment |
ORPHA:2822 |
Multiple Sulfatase Deficiency |
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Retinal degeneration |
OMIM:272200 |
Trichothiodystrophy |
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Photophobia, Myopia, Macular degeneration, Retinal degeneration |
ORPHA:33364 |
Cockayne Syndrome Type 3 |
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Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Hypermetropia, Photoph... |
ORPHA:90324 |
Mannosidosis, Alpha B, Lysosomal |
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Retinal degeneration |
OMIM:248500 |
Mucopolysaccharidosis Type 2 |
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Papilledema, Large central visual field defect, Abnormality of retinal pigmentation, Abnormal fov... |
ORPHA:580 |
Cockayne Syndrome |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... |
ORPHA:191 |
Werner Syndrome |
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Retinal degeneration |
OMIM:277700 |
Xq21 Microdeletion Syndrome |
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Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Myopia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal dege... |
OMIM:253280 |
Hurler Syndrome |
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Retinal degeneration |
OMIM:607014 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Retinal degeneration |
ORPHA:96179 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Visual loss, Macular degeneration |
ORPHA:247234 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
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Retinal degeneration, Visual impairment |
OMIM:618479 |
Retinitis Pigmentosa |
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Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... |
ORPHA:791 |
Cockayne Syndrome A |
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Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Hypermetropia, Pigmentary re... |
OMIM:216400 |
Farber Disease |
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Macular degeneration, Cherry red spot of the macula |
ORPHA:333 |
Bohring-Opitz Syndrome |
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Retinal atrophy, Optic atrophy, High myopia |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:208500 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Pigmentary retinopathy, Optic atrophy, Retinal degeneration |
OMIM:234200 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst... |
OMIM:266920 |
Alport Syndrome |
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Macular degeneration, Retinal flecks |
ORPHA:63 |
Osteopetrosis With Renal Tubular Acidosis |
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Retinal atrophy, Optic atrophy, Abnormal retinal morphology |
ORPHA:2785 |
Say-Barber-Miller Syndrome |
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Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... |
ORPHA:64 |