Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract, Hearing impairment |
OMIM:120040 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Abnormal antihelix morphology, Cataract, Hearing impairment |
OMIM:274205 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Nathalie Syndrome |
|
Sensorineural hearing impairment, Cataract |
ORPHA:2663 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Hearing impairment |
OMIM:300719 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Cataract, Ataxia, Gait disturbance |
ORPHA:2815 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Dysequilibrium Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:1766 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy |
OMIM:618511 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia, Confusion |
OMIM:260650 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Sensorineural hearing impairment, Cataract, Developmental cataract |
OMIM:613076 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of D-threitol in plasma, Optic atrophy, Elevated circulating ribitol concentration |
OMIM:608611 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Memory impairment, Unsteady gait, Cataract |
OMIM:620312 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Spastic Paraparesis And Deafness |
|
Cataract, Hearing impairment |
OMIM:312910 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy, Hyperglycinemia |
OMIM:616859 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Asti... |
ORPHA:231183 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Depression, Dementia, Adult onset sensorineural hearing impairment, Cognitive i... |
ORPHA:329314 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Nathalie Syndrome |
|
Cataract, Hearing impairment |
OMIM:255990 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels |
OMIM:617082 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Camos Syndrome |
|
Optic atrophy |
ORPHA:83472 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy |
ORPHA:2572 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Usher Syndrome Type 1 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Iris... |
ORPHA:231169 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Optic atrophy |
OMIM:618768 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Optic atrophy, Premature graying of hair, Abnormal optic nerve morpholo... |
ORPHA:33445 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Macrotia, Cataract, Posteriorly rotated ears |
OMIM:618392 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Abnormal posturing, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:224050 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy |
OMIM:620314 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy |
ORPHA:1171 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:617207 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Hearing impairment |
OMIM:120433 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Optic atrophy |
OMIM:617086 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy |
OMIM:258501 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor |
OMIM:616732 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:90654 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Head titubation, Optic atrophy |
OMIM:618688 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Optic atrophy |
OMIM:618800 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Sclerosteosis |
|
Optic atrophy, Facial palsy |
ORPHA:3152 |
Sarcosinemia |
|
Hypersarcosinemia, Optic atrophy |
ORPHA:3129 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Optic disc pallor, Hyperprolinemia |
OMIM:619170 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud... |
ORPHA:457205 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis |
ORPHA:1885 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Leber optic atrophy |
OMIM:500001 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy, Low posterior hairline |
ORPHA:3456 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy, Long eyelashes |
OMIM:617276 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Lissencephaly 8 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy |
ORPHA:352682 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Classic Phenylketonuria |
|
Cataract, Depression, Attention deficit hyperactivity disorder, Mental deterioration, Memory impa... |
ORPHA:79254 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase |
ORPHA:401768 |
Woods Syndrome |
|
Frontal hirsutism, Optic atrophy, Supernumerary nipple |
OMIM:615236 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Norrie Disease |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, ... |
OMIM:310600 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Sensory ... |
OMIM:608804 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Sensorineural hearing impairment, Dysmetria, Subcapsular cataract |
OMIM:612674 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Rod-cone dystrophy, Hyp... |
ORPHA:324737 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia |
ORPHA:2801 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Elevated circulating propionylcar... |
OMIM:614857 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Supernumerary nipple |
ORPHA:1173 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Optic disc pallor |
OMIM:615281 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy |
OMIM:609541 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Usher Syndrome Type 2 |
|
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Iris hypopigmentation |
ORPHA:231178 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Sensorineural hearing impairment, Choreoathetosis, Keratoconjunctivi... |
OMIM:278730 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Mental deterioration, Cataract, Dysmetria |
OMIM:619780 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Huntington Disease-Like 1 |
|
Abnormal posturing |
ORPHA:157941 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy |
ORPHA:137867 |
Alpha-Mannosidosis, Adult Form |
|
Mixed hearing impairment, Cataract, Corneal opacity, Confusion, Ataxia, Depression |
ORPHA:309288 |
Muscle-Eye-Brain Disease |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Facial palsy |
OMIM:615085 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating... |
ORPHA:95433 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Cataract |
OMIM:146200 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Hyperalaninemia, Optic disc pallor, Optic atrophy, Optic neuropathy |
OMIM:618249 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Optic atrophy, Titubation |
ORPHA:98768 |
Walker-Warburg Syndrome |
|
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal circulati... |
ORPHA:899 |
Vici Syndrome |
|
Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase concentration, Al... |
OMIM:242840 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... |
ORPHA:247691 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Facial palsy |
OMIM:128100 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease... |
ORPHA:96180 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Papilledema, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cataract, Ataxia, Sensorineural hearing impairment, Depression, Mental deterioration, Memory impa... |
ORPHA:314404 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Alopecia, Supernumerary nipple, Retinal vascular pro... |
OMIM:308300 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior... |
OMIM:612109 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology |
OMIM:617516 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Hirsutism, Highly arched e... |
ORPHA:293967 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy |
OMIM:604928 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy |
OMIM:601539 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy |
OMIM:614863 |
Phace Association |
|
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Hypercholesterolemia |
OMIM:619471 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple |
ORPHA:397715 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... |
ORPHA:508498 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Hypertrichosis |
OMIM:266270 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Azotemia |
OMIM:619321 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Giant somatosensory evoked potentials |
ORPHA:268943 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eye... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Laterally curved eyebrow, Iris colob... |
OMIM:300166 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
7Q11.23 Microduplication Syndrome |
|
Sparse anterior scalp hair, Abnormal optic disc morphology, Long eyelashes, Horizontal eyebrow |
ORPHA:96121 |