Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Blindness, Retinitis pigmentosa inversa |
OMIM:268010 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Retinal degeneration |
OMIM:238340 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Reduced visual acuity, Pho... |
OMIM:617879 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
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 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Abnormal nervous system electrophysiology, Progre... |
OMIM:601780 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy, Visual impairment, Hearing impairment |
OMIM:617717 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204500 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... |
OMIM:143200 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... |
OMIM:204200 |
Bardet-Biedl Syndrome 16 |
|
Reduced visual acuity, Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration, Hearing ... |
OMIM:615993 |
Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Visual lo... |
OMIM:616648 |
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 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... |
OMIM:256730 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Constriction of peripheral visual field, Vertigo, Sensorineural hea... |
OMIM:520000 |
Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
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 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Abnormal nervous system elect... |
OMIM:256731 |
Birdshot Chorioretinopathy |
|
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... |
ORPHA:179 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Sensorineural hearing impairment, Photophobia, Macular degeneration, Hemeralopia... |
OMIM:617236 |
Hsd10 Mitochondrial Disease |
|
Visual loss, Sensorineural hearing impairment, Optic atrophy, Cerebral cortical atrophy, Retinal ... |
OMIM:300438 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment |
ORPHA:75858 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Progressive sensorineural he... |
OMIM:303110 |
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 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Cerebral visu... |
ORPHA:52368 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment |
OMIM:252650 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment, Hearing impairment |
OMIM:609508 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Myopia, Retinal degeneration |
ORPHA:3363 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Sensorineural heari... |
ORPHA:1215 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Visual loss,... |
OMIM:610127 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Visual loss, Sensorineural hearing impairment, Optic atrophy, Retinal de... |
OMIM:249270 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... |
OMIM:613464 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss |
OMIM:164500 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Periventricular heterotopia, Optic atroph... |
OMIM:616171 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Sensorineural hearing impairment, Abnormal vitreous humor morphology,... |
ORPHA:90654 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia, Gray matter heterotopia |
OMIM:615960 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Simplified gyral pattern, Retinal degeneration |
OMIM:616211 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Interictal E... |
ORPHA:79264 |
Hsd10 Disease, Infantile Type |
|
Blindness, Diffuse cerebral atrophy, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal... |
ORPHA:391428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Sensorineural hearing impairment, Reduced visual acuity, Lissencephaly, Vi... |
OMIM:615249 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer... |
OMIM:604360 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Retinal degeneration, Nyctalopia |
OMIM:266500 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Cerebral visual impairment, Sensorineural hear... |
OMIM:617519 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... |
OMIM:600501 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Constriction of peripheral visual field, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia |
OMIM:617523 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit... |
ORPHA:168491 |
Alg6-Cdg |
|
Low-set ears, Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Cerebral atrophy, Hypsarrhythmia, Abnormality of vision, EEG with multifocal slow ... |
ORPHA:442835 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia |
ORPHA:370022 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy |
ORPHA:816 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Glue ear, Patchy atrophy of the retinal p... |
ORPHA:1433 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration |
OMIM:270700 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment |
OMIM:616881 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... |
OMIM:601455 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... |
OMIM:615994 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Nyctalopia, Visual field defect, Low-set ears, Macrotia, Cerebral cortical at... |
ORPHA:166035 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Sensorineural hearing impairment, Angioid streaks of the fundus, Retinopathy, Retin... |
OMIM:239000 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Rod-cone dystrophy, Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion,... |
OMIM:250410 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... |
ORPHA:168549 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Hearing impairment |
OMIM:272200 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma |
OMIM:602499 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Pallidal degeneration, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v... |
ORPHA:157850 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hearin... |
OMIM:209900 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... |
OMIM:601152 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Sensorineur... |
ORPHA:791 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration, Diplopia |
ORPHA:284289 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
OMIM:256600 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Peripheral visual field loss, Retinal degeneration |
ORPHA:79244 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Abnormal motor evoked potentials, P... |
ORPHA:412057 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern... |
ORPHA:1435 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nyctalopia, Retinal degeneration |
OMIM:615630 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Cerebellar corti... |
ORPHA:247234 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne... |
ORPHA:206436 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Joubert Syndrome 6 |
|
Blindness, Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Hypsarrhythmia |
ORPHA:542306 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
OMIM:245200 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... |
OMIM:120330 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Macrotia, Cerebral... |
OMIM:248500 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... |
ORPHA:485421 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials |
ORPHA:1947 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... |
ORPHA:94147 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Agyria, Optic atr... |
OMIM:236670 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Posteriorly rotated ears, Protruding ear, Low-set ears, Retinal degeneration, Visual impairment |
OMIM:618479 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration |
OMIM:619780 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Undetectable visual evoked potentials, Chorioretinal coloboma |
ORPHA:163961 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Visual impairment,... |
ORPHA:2822 |
Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... |
ORPHA:423479 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Photophobia, Pigmentary retinopathy, Visual i... |
ORPHA:90321 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Mixed hearing impairment, Constriction of peripheral visual field, Blindness, Thickened h... |
ORPHA:581 |
Peho Syndrome |
|
Undetectable visual evoked potentials, Optic atrophy |
OMIM:260565 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,... |
ORPHA:485 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... |
OMIM:177850 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Large central visual field defect... |
ORPHA:580 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Norrie Disease |
|
Retinal detachment, Blindness, Sensorineural hearing impairment, Optic atrophy, Retinal dysplasia... |
OMIM:310600 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Hurler Syndrome |
|
Recurrent otitis media, Neurodegeneration, Retinal degeneration, Hearing impairment |
OMIM:607014 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Macrotia, Retinal hemorrhage, Hypermetropi... |
ORPHA:90324 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... |
ORPHA:79282 |
Senior-Loken Syndrome 8 |
|
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment |
OMIM:616307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Type II lissencephaly, Optic atrophy, EEG abnormality, Hypoplasia of the... |
OMIM:253280 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Trichothiodystrophy |
|
Myopia, Protruding ear, Photophobia, Macular degeneration, Bilateral sensorineural hearing impair... |
ORPHA:33364 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309256 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Mpdu1-Cdg |
|
Undetectable visual evoked potentials, Optic atrophy |
ORPHA:79323 |
Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy |
ORPHA:309263 |
Knobloch Syndrome |
|
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... |
ORPHA:1571 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Optic disc ... |
ORPHA:191 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
Adult Krabbe Disease |
|
Visual loss, Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... |
OMIM:234200 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Alport Syndrome |
|
Macular degeneration, Sensorineural hearing impairment, Retinal flecks |
ORPHA:63 |
Metachromatic Leukodystrophy, Adult Form |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... |
ORPHA:309271 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy, High myopia |
ORPHA:97297 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Conductiv... |
ORPHA:2785 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Macrotia, Optic atrophy, Protruding ear, Macular degeneration,... |
ORPHA:3132 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia |
OMIM:616364 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Brain atrophy |
ORPHA:333 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Bilateral sensorineural hea... |
OMIM:619418 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:3121 |
Hermansky-Pudlak Syndrome |
|
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Retinal dystrophy, Posteriorly rotated ears, Visual loss, Peripheral visual field loss, Macular d... |
OMIM:266920 |
Gaucher Disease, Type I |
|
Macular atrophy |
OMIM:230800 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:79474 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Metachromatic Leukodystrophy |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:512 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Abnormality of visual evoked potentials |
OMIM:203700 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Abnormal vestibular function, Retinal pigment epithel... |
ORPHA:64 |