血族結婚による女性罹患者を含むCongenital Retinoschisisの一家系

A Family with Congenital Retinoschisis including a Female Patient

緒言

　Retinoschisisは，わが国では網膜披裂または網膜分離病と呼ばれ，先天性，後天性（老人性），続発性の3種に大別される^1）。そのうちX染色体劣性の遺伝形式を示すCongenital Retinoschisis（以後C．R．と略す）は欧米では多数の報告例があり，とくにKrausher^2）等が多数の症例について詳細な検討を加えている。しかしわが国におけるその家族内発生の報告例は未だ少数^3）のようである。われわれは二世代にわたり4名の患者を含むC．R．の典型的な一家系を経験した。しかもこの家系の特徴として，

　①家系内に血族結婚を有すること。

Four cases of congenital retinoschisis in a family were reported.

Findings of interest in this pedigree were as follows:

1) Consanguineous marriage within the pedi-gree

2) A female patient was present because of this marriage

Because of the X-linked recessive inheritance of this disease a female patient is extremely rare and only one assured case has ever been reported. Our female patient was nine year old and presented a typical macular degeneration, widespread retinal cleavage and typical break of internal leaf of the cleaved retina in both eyes.