先天性無虹彩に水晶体亜脱臼を伴つた症例のアミノ酸代謝

Amino Acid Metabolisum of a Case of Congenital Aniridia with Subluxatio Lentis

緒言

　水晶体偏位，または水晶体亜脱臼を起こす先天的な因子を持つている疾患として，Marfan症候群，Marchesani症候群，Homocystinuriaがよく知られているが，非常にまれにはEhlers Dan—loo症候群，Oxycephary, Crouzon's diseaseに認められる^1）。

　Marfan症候群，Homocystinuriaにおける水晶体亜脱臼とアミノ酸代謝，つまり前者はハイドロオキシプロリンの過剰な尿中排泄，後者は尿中へのホモシステインの排泄が症状の発現と因果関係があると考えられ，チン氏帯の脆弱性を説明することが試みられている。

The familial occurrence of 9 cases of conge-nital aniridia is reported. Binocular subluxation of the lens was present in one member of the cases. This particular case showed positive reac-tion of nitropsrusside sodium in the urine.

Cysteine concentration in the urine was de-termined by amino acid autoanalyzer. The value was found to be higher in this case than other family members.

Homocysteine could not be detected in the urine. Deposit of cystine crystals were observed in histochemical preparations of the retina and the vitreous of the left enucleated eye.