Ocular manifestations of metabolic disorders.
Articles published during the past year on the ocular manifestations of metabolic disorders and related issues are reviewed. Fewer articles on this topic were available this year than previous years. Ornithine-delta-amino transferase-deficient mice were produced by gene targeting in the hope of creating an animal model for gyrate atrophy. The mice developed unexpected hypoornithinemia in the neonatal period and died 24 to 48 hours after birth. One human infant also had hypoornithnemia without serious symptoms. Both mice and human develop hyperornithinemia later. Arginine supplementation rescued the mice, but they developed central retinal degeneration by 7 months. Coexistence of autosomal dominant congenital or early onset cataract and hyperferritinemia, not related to iron overload, was discovered in three pedigrees, two Italian and one not mentioned, by two different groups. Mutations of the ferritin L-subunit gene in the iron-responsive element were identified, with autosomal dominant inherited cataract associated with hyperferritinemia.
Iwata
F
F
National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1860, USA.
Kaiser-Kupfer
M I
MI
D000818:Animals; D005128:Eye Diseases / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008659:Metabolic Diseases / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009154:Mutation