Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain.
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.
Cahill
M
M
Department of Paediatric Ophthalmology, The Children's Hospital, Dublin 1, Ireland.
Monavari
A
A
Naughten
E
E
O'Keefe
M
M
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
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I