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Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy
Published in Ophthalmic Genetics, 2019
Eric D. Gaier, Inderneel Sahai, Janey L. Wiggs, Brian McGeeney, Jodi Hoffman, Crandall E. Peeler
Hereditary optic neuropathies are characterized by primary optic atrophy and are caused by mutations in multiple genes. Mutations in OPA3 are associated with optic atrophy in distinct contexts (1–3). Heterozygous mutations in OPA3 cause autosomal dominant optic atrophy with associated cataract (OMIM#165300), while mutations in both OPA3 alleles cause autosomal recessive 3-methylglutaconic aciduria type III (MGA3; Costeff Syndrome; OMIM#258501), a neuro-degenerative disorder characterized by optic atrophy, extrapyramidal signs, spastic paraparesis and ataxia.