Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme.
Progressive bilateral cataracts developed in infancy in a 5-month-old girl with deficiency of complex I, a mitochondrial electron transport chain enzyme. In the newborn period, she had severe lactic acidosis and the diagnosis of complex I deficiency was confirmed by mitochondrial respiratory chain assay on muscle biopsy. By 5 months, she had completely opaque nuclear sclerotic cataracts, with loss of fixation and the red reflex. She underwent bilateral, sequential cataract extraction. The lens aspirate was submitted for cytologic analysis and electron microscopy, which revealed increased intracellular glycogen and swollen mitochondria. To our knowledge the association of complex I deficiency with cataracts in infancy has not been reported previously. The diagnosis of a respiratory chain enzyme defect in infancy is an indication for early ophthalmic evaluation to identify cataracts that may result in visual loss. Conversely, the recognition of cataracts in infants with unexplained neurologic disease or metabolic acidosis may necessitate further evaluation for metabolic etiologies, including mitochondrial disorders.
Ciulla
T A
TA
Department of Ophthalmology, Harvard Medical School, Boston, Mass, USA.
North
K
K
McCabe
O
O
Anthony
D C
DC
Korson
M S
MS
Petersen
R A
RA
D000140:Acidosis, Lactic / Q000201:enzymology; D001706:Biopsy; D002386:Cataract / Q000175:diagnosis / Q000201:enzymology* / Q000209:etiology; D002387:Cataract Extraction; D004579:Electron Transport / Q000502:physiology; D042967:Electron Transport Complex I; D005260:Female; D006003:Glycogen / Q000032:analysis; D006801:Humans; D007223:Infant; D007908:Lens, Crystalline / Q000201:enzymology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D008928:Mitochondria / Q000201:enzymology* / Q000648:ultrastructure; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
D006003:Glycogen; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I