全身奇形を合併したPeters奇形の1例

A case of Peters' anomaly with systemic malformations

　前部ぶどう腫を呈し生後25日に摘出したPeters奇形男児の眼球を病理組織学的に検索した。角膜中央部で内皮・デスメ膜・実質が欠損し，角膜実質内および水晶体前極部に水晶体茎に由来すると考えられる水晶体組織塊がみられた。虹彩が角膜後面に癒着しており，角膜と虹彩の実質は連続的に移行して両者の識別は不能であり，隅角・毛様体形成不全がみられた。以上の所見から，水晶体胞分離不全により成立したPeters奇形と診断した。他眼の虹彩実質過形成をはじめ低位耳介，高口蓋，先天歯牙，左心低形成症候群および停留睾丸などの異常が合併していた。Peters奇形では，全身の神経堤細胞由来の組織に発生する異常に注意を払うべきである。

A 25-day-old male infant manifested severe anterior staphyloma in the left eye. The eye had to be enucleated and was subjected to histopathological studies. The central cornea showed localized defects of endothelium, Descemet's membrane and corneal stroma. An undifferentiated lenticular mass, presumably derived from the lens stalk, was located in the corneal stroma and the anterior pole of the lens. The maldeveloped iris was not distinguishable from the corneal stroma where the iris adhered to the posterior corneal surface. There were also developmental abnormalities of the chamber angle and the ciliary body. These findings led to the diagnosis of Peters' anomaly caused by faulty separation of the lens vesicle. The patient manifested other anomalies including hyperplasia of the iris stroma in the fellow eye, low set ears, high arched palate, congenital teeth, hypoplastic left heart syndrome and retained testis. Peters' anomaly deserves attention because of the possible association of systemic anomalies in tissues derived from neural crest cells.