Ocular complications in homocystinuria--early and late treated.
نویسندگان
چکیده
منابع مشابه
Ocular complications in homocystinuria--early and late treated.
Homocystinuria due to cystathionine-beta-synthetase deficiency is an autosomal recessive disorder of methionine metabolism with an incidence in Ireland of 1 in 52,544 births. Ocular complications in untreated patients include ectopia lentis, secondary glaucoma, optic atrophy, and retinal detachment. There are no characteristic signs or symptoms in infancy, and early detection relies on screenin...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1989
ISSN: 0007-1161
DOI: 10.1136/bjo.73.6.427