A Case of Homocystinuria with Ectopia Lentis.

Chung, Dug Youhng; Chung, Young Tae

Case Report

Journal of the Korean Ophthalmological Society 1991;32(1):110-115.
Published online January 1, 1991.

A Case of Homocystinuria with Ectopia Lentis.

Dug Youhng Chung, Young Tae Chung

Department of Ophthalmology, Presbyterian Medical Center, Chonju, Korea.

수정체 탈구를 동반한 Homocystine 뇨증 1 예

정덕영(Dug Youhng Chung),정영태(Young Tae Chung)

Abstract

Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by: 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include: ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.

Key Words: Autosomal recessive disorder;Cystathionine B-synthase deficiency;Ectopia lentis;Homocystinuria