Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... |
OMIM:603649 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... |
ORPHA:827 |
Retinitis Pigmentosa 48 |
|
Visual impairment, Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... |
OMIM:608051 |
Doyne Honeycomb Retinal Dystrophy |
|
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar |
OMIM:615439 |
Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment |
OMIM:600110 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... |
ORPHA:1243 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... |
OMIM:608850 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... |
OMIM:618195 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... |
OMIM:616170 |
Late-Onset Retinal Degeneration |
|
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... |
OMIM:605670 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... |
OMIM:153700 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... |
ORPHA:1852 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... |
ORPHA:59181 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Reduced visual acuity, Macular degeneration |
OMIM:616118 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... |
OMIM:180020 |
Stargardt Disease 4 |
|
Reduced visual acuity, Retinal flecks, Macular degeneration |
OMIM:603786 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Choroidal neovascularization, Retinal pigment... |
ORPHA:97341 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels |
OMIM:618513 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Macular Degeneration, X-Linked Atrophic |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
High hypermetropia, Reduced visual acuity, Retinal degeneration |
OMIM:617879 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... |
OMIM:605750 |
Cone-Rod Dystrophy 5 |
|
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... |
OMIM:600977 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Visual loss, Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... |
OMIM:609021 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... |
ORPHA:85128 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss, Mizuo phenomenon, ... |
OMIM:312700 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... |
ORPHA:99000 |
Retinitis Pigmentosa 13 |
|
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... |
OMIM:600059 |
Grouped Pigmentation Of The Retina |
|
Metamorphopsia, Abnormality of retinal pigmentation |
OMIM:233800 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... |
ORPHA:179 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... |
OMIM:609923 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Cone-Rod Dystrophy 13 |
|
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... |
OMIM:608194 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... |
OMIM:608161 |
Exudative Vitreoretinopathy 6 |
|
Myopia, Exudative vitreoretinopathy, Progressive visual loss, Retinal detachment, Posterior vitre... |
OMIM:616468 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Attenuation of ... |
OMIM:613809 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Congenital Glaucoma |
|
Visual loss, Retinal detachment |
ORPHA:98976 |
Cleft Lip-Retinopathy Syndrome |
|
Visual impairment, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... |
OMIM:613862 |
Exudative Vitreoretinopathy 5 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal exudat... |
OMIM:613310 |
Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... |
ORPHA:209943 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... |
OMIM:136550 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... |
OMIM:610381 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Ch... |
OMIM:607921 |
Bietti Crystalline Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... |
ORPHA:41751 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... |
OMIM:600138 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... |
OMIM:613194 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... |
OMIM:304020 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Myopia, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, ... |
OMIM:143200 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... |
OMIM:300476 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Cone Dystrophy 3 |
|
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... |
OMIM:602093 |
Retinitis Pigmentosa 47 |
|
Rod-cone dystrophy, Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Macular Dystrophy, Patterned, 1 |
|
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... |
OMIM:169150 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia |
ORPHA:1871 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615922 |
Optic Atrophy 1 |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... |
OMIM:165500 |
Retinal Dystrophy And Obesity |
|
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... |
OMIM:616188 |
Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... |
ORPHA:180 |
Achromatopsia |
|
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... |
ORPHA:49382 |
Cone-Rod Dystrophy 15 |
|
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... |
OMIM:613660 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Visual impairment, Color vision defect, Photophobia, Nyctalopia |
ORPHA:1872 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks |
OMIM:611809 |
Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... |
OMIM:616517 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Central scotoma, Photophobia, Cone/cone-rod dystrophy, Visual impairment |
OMIM:615163 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... |
OMIM:619007 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... |
OMIM:601718 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... |
OMIM:603075 |
Retinitis Pigmentosa 63 |
|
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy |
OMIM:614494 |
Blue Cone Monochromatism |
|
Blue cone monochromacy, Abnormality of retinal pigmentation, Visual impairment, Photophobia |
ORPHA:16 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment |
OMIM:607476 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Color vision defect, Photophobia, Ny... |
OMIM:600852 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Nyctalopia, Fundus atrophy, Attenuat... |
OMIM:613428 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... |
ORPHA:141 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... |
OMIM:611131 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Visual impairment, Rod-cone dystrophy, Attenuation of re... |
OMIM:614180 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... |
OMIM:210370 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Visual impairment, Optic atrophy, Abnormality of retinal pigmentation, Myopia |
ORPHA:1574 |
Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Exudative retinal detachment, Metamorphopsia, Visual field defect, Reduced visual a... |
ORPHA:209956 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... |
OMIM:264420 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Nyctalopia, Macular degeneration |
OMIM:607475 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... |
OMIM:614500 |
Retinal Cone Dystrophy 4 |
|
Reduced visual acuity, Retinal pigment epithelial mottling, Constriction of peripheral visual fie... |
OMIM:610478 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... |
OMIM:267760 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Rhegmatogenous retinal detachment, Myopia, Optically empty vitreous |
OMIM:609508 |
Retinitis Pigmentosa 7 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... |
OMIM:608133 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Abnormality of retinal pigmentation, Rod-cone dystrophy,... |
OMIM:615780 |
Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia |
OMIM:616502 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... |
OMIM:618826 |
Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Retinitis Pigmentosa 2 |
|
Myopia, Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, ... |
OMIM:312600 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... |
OMIM:120970 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... |
OMIM:606068 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Leber Congenital Amaurosis 15 |
|
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... |
OMIM:613843 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Retinitis Pigmentosa 92 |
|
Visual impairment, Paracentral scotoma, Constriction of peripheral visual field, Pigmentary retin... |
OMIM:619614 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... |
ORPHA:411527 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Neovascular Glaucoma |
|
Abnormality of the optic nerve, Retinal vascular proliferation, Visual acuity test abnormality, V... |
ORPHA:94058 |
Cone-Rod Dystrophy 3 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Central scotoma, Bull's eye maculopathy,... |
OMIM:604116 |
Stickler Syndrome Type 2 |
|
Myopia, Abnormal vitreous humor morphology, Retinal detachment, Retinopathy |
ORPHA:90654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... |
OMIM:305390 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia |
OMIM:613731 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Oguchi Disease |
|
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... |
ORPHA:75382 |
Retinitis Pigmentosa 1 |
|
Myopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of peripheral v... |
OMIM:180100 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Progressive v... |
ORPHA:1215 |
Retinitis Pigmentosa 77 |
|
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy |
OMIM:617304 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... |
ORPHA:284454 |
Retinitis Pigmentosa 51 |
|
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... |
OMIM:613464 |
Retinitis Pigmentosa 6 |
|
Rod-cone dystrophy, Chorioretinal degeneration, Constriction of peripheral visual field, Pigmenta... |
OMIM:312612 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... |
OMIM:125250 |
Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... |
OMIM:617460 |
Stickler Syndrome, Type V |
|
Vitreoretinopathy, High myopia, Retinal detachment |
OMIM:614284 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... |
OMIM:133780 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... |
ORPHA:352731 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... |
OMIM:601813 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... |
OMIM:618613 |
Myopia 3, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:608474 |
Myopia 2, Autosomal Dominant |
|
High myopia, Retinal detachment |
OMIM:160700 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Microspherophakia With Hernia |
|
Myopia, Retinal detachment |
OMIM:157150 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... |
OMIM:613767 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Protanopia, Deuteranopia, Amblyopia, Optic nerve hypoplasia,... |
OMIM:300843 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Nummular pigmentation of the fundus, Chorioretinal atrop... |
OMIM:618697 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Amblyopia |
ORPHA:35737 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:613756 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... |
ORPHA:436245 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... |
ORPHA:52427 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy |
OMIM:617236 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment |
OMIM:212550 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
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Retinal detachment, Congenital blindness |
ORPHA:436182 |
Retinitis Pigmentosa 83 |
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Vitreous floaters, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:618173 |
Coats Disease |
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Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Retinitis Pigmentosa 10 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:180105 |
Ataxia With Vitamin E Deficiency |
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Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, ... |
ORPHA:96 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Amblyopia, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Retinitis Pigmentosa 46 |
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Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peri... |
OMIM:612572 |
Cone-Rod Dystrophy 8 |
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Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... |
OMIM:605549 |
Late-Onset Retinal Degeneration |
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Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
Vitreoretinochoroidopathy |
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Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
Congenital Primary Aphakia |
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Abnormality of vision, Retinal dysplasia |
ORPHA:83461 |
Nephronophthisis 15 |
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Blindness, Retinal degeneration |
OMIM:614845 |
Retinitis Pigmentosa 58 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Oculorenocerebellar Syndrome |
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Retinal degeneration |
OMIM:257970 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
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Retinal dysplasia |
OMIM:614830 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... |
ORPHA:364055 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... |
OMIM:125310 |
Cataract 21, Multiple Types |
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Macular hypoplasia, Retinal detachment |
OMIM:610202 |
Retinitis Pigmentosa 56 |
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Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... |
OMIM:613581 |
Cone-Rod Dystrophy 10 |
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Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... |
OMIM:610283 |
Norrie Disease |
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Optic atrophy, Retinal fold, Retinal dysplasia, Retinal detachment, Blindness |
OMIM:310600 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
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High hypermetropia, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macu... |
OMIM:145350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Retinitis Pigmentosa 43 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613810 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten... |
ORPHA:52368 |
Ectopia Lentis Et Pupillae |
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High myopia, Retinal detachment |
OMIM:225200 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Optic atrophy, Abnormality of visual evoked potentials, Myopia |
ORPHA:2971 |
Hypobetalipoproteinemia, Familial, 1 |
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Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Oculocutaneous Albinism Type 1A |
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Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... |
ORPHA:79431 |
Birdshot Chorioretinopathy |
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Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis |
OMIM:605808 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Friedreich Ataxia |
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Optic atrophy, Abnormality of visual evoked potentials, Decreased sensory nerve conduction veloci... |
OMIM:229300 |
Nephronophthisis 14 |
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Retinal degeneration |
OMIM:614844 |
Krabbe Disease |
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Abnormal flash visual evoked potentials, Optic atrophy, Blindness, Decreased nerve conduction vel... |
OMIM:245200 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Visual loss, Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction v... |
OMIM:256600 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Reduced visual acuity, Retinal atrophy |
OMIM:616722 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Visual loss, Retinal detachment, Abnormality of retinal pigmentation, Blindness |
ORPHA:171844 |
Cone-Rod Dystrophy 6 |
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Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... |
OMIM:601777 |
Retinitis Pigmentosa 74 |
|
Constriction of peripheral visual field, Optic disc pallor, Rod-cone dystrophy, Pigmentary retino... |
OMIM:616562 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myopia, Abnormality of visual evoked potentials, Retinal degeneration, Reduced visual acuity, Vis... |
ORPHA:168491 |
Uveal Melanoma |
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Abnormal fundus morphology, Metamorphopsia, Photopsia, Visual loss, Retinal detachment, Vitreous ... |
ORPHA:39044 |
Antiphospholipid Syndrome, Familial |
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Central retinal artery occlusion, Visual loss, Retinal detachment, Retinal vasculitis, Blurred vi... |
OMIM:107320 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Decreased nerve conduc... |
ORPHA:485421 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Optic atrophy, Myopia, Abnormality of visual evoked potentials, Hypermetropia, Cerebral visual im... |
OMIM:616875 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:702 |
White-Sutton Syndrome |
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Optic atrophy, Myopia, Abnormality of visual evoked potentials, Hypermetropia, Rod-cone dystrophy... |
OMIM:616364 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial at... |
OMIM:616959 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
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Myopia, Retinal detachment |
OMIM:223330 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Cerebral visual impairment, Optic atrophy, Abnormality of visual evoked potentials, Myopia |
ORPHA:480898 |
Micro Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... |
ORPHA:2510 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:1933 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Optic nerve hypoplasia |
OMIM:615113 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... |
ORPHA:320401 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cerebral visual impairment, Abnormality of visual evoked potentials |
ORPHA:1389 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of visual evoked potentials, Blindness, Abnormality of peripheral nerv... |
ORPHA:35069 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
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Progressive visual loss, Abnormality of pattern visual evoked potentials, Optic disc pallor, Visu... |
ORPHA:1947 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Reduced visual acuity, Decreased nerve co... |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Reduced visual acuity, Decreased nerve co... |
ORPHA:309263 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Optic disc pallor, Retinal dystrophy, Aplasia/Hypoplasia of the optic nerve, Macular coloboma, Un... |
ORPHA:423479 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Optic atrophy, Abnormality of visual evoked potentials, Abnormal autonom... |
OMIM:231550 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Retinal degeneration, Visual field defect, Rod-cone dystrophy, Nyctalopia, Abnormality of pattern... |
ORPHA:166035 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual loss, Blindn... |
ORPHA:206443 |
Infantile Krabbe Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Cherry red spot of the macula, Decreased ... |
ORPHA:206436 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... |
ORPHA:309271 |
Progressive Supranuclear Palsy |
|
Abnormal synaptic transmission, Dementia, Memory impairment, Cognitive impairment |
ORPHA:683 |
Hermansky-Pudlak Syndrome |
|
Abnormality of the optic nerve, Myopia, Abnormality of visual evoked potentials, Ocular albinism,... |
ORPHA:79430 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Warburg Micro Syndrome 2 |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:614225 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration, V... |
ORPHA:2822 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
High myopia, Abnormality of visual evoked potentials |
OMIM:614457 |
Cln5 Disease |
|
Abnormality of visual evoked potentials, Visual impairment |
ORPHA:228360 |
Mogs-Cdg |
|
Optic atrophy, Abnormality of visual evoked potentials, Absent brainstem auditory responses |
ORPHA:79330 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Hypermetropia, Abnormality of visual evoked p... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... |
ORPHA:909 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Hypermetropia, Abnormality of visual evoked p... |
OMIM:133540 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Visual loss, Cerebral visual impairment, Abnormality of visual evoked potentials |
OMIM:203700 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:667 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual impairment |
ORPHA:512 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |