第一次硝子体過形成遺残の1家系

A pedigree of persistent hyperplastic primary vitreous

（1）第一次硝子体過形成遺残およびその亜型としての硝子体発生異常を多発した1家系5症例を経験した．

（2）この家系の遺伝形式は常染色体性優性遺伝と推定された．

（3）5症例全例に後部硝子体由来と考えられる異常所見を認めた．また4例が両眼性に罹患していた．これら二つの特徴は，過去における遺伝性を有した硝子体発生異常の報告とよく一致した．

（4）家族性に生じる第一次硝子体過形成遺残およびその亜型としての硝子体発生異常は，孤発性の症例と比較し，その臨床像をやや異にすると考えられる．

A 5-month-old girl with leukocoria was diagnosedas bilateral persistent hyperplastic primary vitreous (PHPV). Examination of her family revealed vitreous anomalies in 4 members including her father, cousin of her father, and two daughters of the cousin. The observed vitreous anomalies were interpreted as varia-tions of PHPV. All the 5 cases showed abnormal findings in the posterior pole. The vitreous anomalies were present bilaterally in 4 cases.

The mode of inheritance in this pedigree appearedto be autosomal dominant. In view of other reports on hereditary occurrence of PHPV, we could conclude that the hereditary PHPV is different from sporadic one in terms of frequent bilateral occurrence and occurrence of anomalies in the posterior pole.