title: Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain.
abstract: Hereditary optic atrophy is a significant cause of optic atrophy in children. We report two male siblings who suffered profound irreversible loss of vision over a 2-month period. Neither patient had any prior ophthalmic problems. Both siblings had a metabolic disorder characterized by transient episodes of ataxia and paresis, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. Respiratory chain defect in complex I was confirmed in one patient.
authors.affiliation: Department of Paediatric Ophthalmology, The Children's Hospital, Dublin 1, Ireland.
authors.forename: M
authors.initials: M
authors.lastname: Cahill
authors.forename: A
authors.initials: A
authors.lastname: Monavari
authors.forename: E
authors.initials: E
authors.lastname: Naughten
authors.forename: M
authors.initials: M
authors.lastname: O'Keefe
mesh_terms: D000293:Adolescent; D002648:Child; D004272:DNA, Mitochondrial / Q000032:analysis; D004579:Electron Transport; D042967:Electron Transport Complex I; D006801:Humans; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000201:enzymology* / Q000503:physiopathology; D014792:Visual Acuity
chemical_list: D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I