POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndrome Optic atrophy, 3-methylglutaconic aciduria Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14 Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesĬombined oxidative phosphorylation deficiency Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Progressive external ophthalmoplegia, Mitochondrial multisystemic disorder Leigh syndrome, Mitochondrial multisystemic disorder Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes Myoclonic epilepsy with ragged red fibers, Leigh syndromeĬytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility to Myoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesĭiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetes Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiency Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Leber optic atrophy and dystonia, Mitochondrial complex I deficiency Leber hereditary optic neuropathy, Mitochondrial complex I deficiency Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrialĬytochrome c oxidase deficiency, Leber hereditary optic neuropathy Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialĬardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease Multiple mitochondrial dysfunctions syndrome 4ĭystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) Spastic Paraplegia, Neurodegeneration with brain iron accumulationĮncephalopathy due to defective mitochondrial and peroxisomal fission 1 Spastic paraplegia, Combined oxidative phosphorylation deficiency Optic atrophy, Infantile cerebellar-retinal degeneration Variants in C12ORF65 are implicated in autosomal recessive hereditary spastic paraplegias. Autosomal dominant Charcot-Marie-Tooth hereditary neuropathy type 2A is caused by variants in MFN2. Biallelic variants in WFS1 are associated with optic atrophy as part of the autosomal recessive Wolfram syndrome. For example, deafness-dystonia-optic neuronopathy (DDON) syndrome (Mohr-Tranebjaerg syndrome) is inherited in an X-linked manner and caused by variants in TIMM8A. Approximately 80% of the familial and 50% of the sporadic cases with OA1 are explained by variants in OPA1, which encodes a mitochondrial inner membrane protein. OA1 is characterized by the preferential loss of retinal ganglion cells and is inherited in an autosomal dominant manner. The visual impairment is usually moderate, but ranges from severe (legal blindness with acuity <1/20) to mild, accompanied by visual field and color vision defects. Clinical presentation can be highly variable. Optic atrophy type 1 (OA1) is clinically characterized by progressive decrease in visual acuity from early childhood onwards. Optic atrophy is a condition that affects the optic nerve, which carries impulses from the eye to the brain.
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