Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Hsd10 Mitochondrial Disease |
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Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration |
OMIM:300438 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Optic Atrophy 5 |
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Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Spastic Paraplegia Type 7 |
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Cerebellar atrophy, Optic disc pallor, Optic atrophy, Abnormal mitochondrial morphology, Cerebral... |
ORPHA:99013 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... |
ORPHA:275872 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Optic Atrophy 8 |
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Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Canavan Disease |
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Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Mepan Syndrome |
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Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Optic atrophy, Cerebral atrop... |
ORPHA:508093 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Oculocutaneous Albinism Type 1 |
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Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... |
ORPHA:352731 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Optic atrophy |
ORPHA:543470 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Cerebellar atrophy, Decreased mitochondrial number |
ORPHA:352447 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy, Facial palsy |
OMIM:602541 |
Dystonia-Aphonia Syndrome |
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Cerebellar atrophy, Abnormal mitochondrial shape, Cerebral atrophy |
ORPHA:412217 |
Friedreich Ataxia |
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Optic atrophy, Mitochondrial malic enzyme reduced, Abnormality of visual evoked potentials, Decre... |
OMIM:229300 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, Mitochondrial swelling |
ORPHA:397744 |
Oculocutaneous Albinism Type 1A |
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Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
OMIM:302060 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Mitochondrial hypertrophy |
OMIM:619518 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Fumarase Deficiency |
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Mitochondrial swelling, Optic atrophy, Cerebral atrophy |
OMIM:606812 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |