3世代にわたる先天白内障の1家系

A pedigree of congenital cataract over three generations

要約　少なくとも3世代にわたる先天白内障の家系に遭遇した。発端者は女児で，1歳を過ぎたころから両眼の瞳孔白濁に家族が気づいていたが，そのまま放置していた。1歳半検診のとき，両眼の白内障が発見された。4歳のときに当科を受診した。矯正視力は左右眼とも0.5であった。水晶体の前囊下混濁が両眼にあり，両眼の先天白内障と診断し，白内障手術を行った。家系内の4名が白内障手術を両眼に受けていた。手術時の年齢は，患児の父16歳，父方の叔父10代，父方の叔母19歳，父方の祖父30歳である。発端者を含めた5名の手術時の年齢には，4歳から30歳までと大きな差があった。本家系の先天白内障は，これ以外の眼または全身の合併症を伴わない常染色体優性遺伝であると考えられる。

Abstract.　We observed a pedigree of congenital cataract involving three generations. The propositus was a girl. Bilateral leukokoria was noted by her family when she was one year old. She was diagnosed with congenital cataract at the age of 18 months during a health check-up. She visited us at the age of 4 years. Her corrected visual acuity was 20/40 in either eye. Both eyes showed anterior subcapsular opacity,leading to the diagnosis of congenital cataract and to surgery. Four members in the pedigree had been operated for bilateral cataract. Their age at the time of surgery was 16 years for her father,19 years for her paternal the second decade of life for her paternal uncle,and 30 years for her paternal grandfather. The age at the time of surgery thus ranged from 4 to 30 years among the five affected members. The mode of inheritance appeared to be autosomal dominant without other eye or systemic disorders.