黄斑部低形成を合併した先天無虹彩症の一家族例

A familial case of congenital aniridia associated with macular hypoplasia

　3世代7例にわたる常染色体優性遺伝と思われる先天無虹彩症の一家系に，3例の黄斑部低形成を伴った症例を報告した。先天無虹彩症と黄斑部低形成の合併に関し，発生学的見地から考察を加えた。

We observed congenital aniridia with macular hypoplasia in a pair of siblings and their mother. Further analysis of family history suggested the presence of aniridia with nystagmus in a total of 8 members in 3 generations including the present cases.

All the three cases showed nystagmus and cata-ract of varying degrees. Poor visual acuity was also caused by other contributary factors as macular hypoplasia, glaucoma and corneal opacities.

The association of aniridia and other develop-mental ocular abnormalities seemed to be due to disturbed differentiation at the end of third fetal month.