無虹彩-Wilms腫瘍症候群の1例

A case of aniridia associated by Wilms tumor

　典型的な無虹彩-Wilms腫瘍症候群の5カ月女児の1例について報告した．眼科的に水平眼振，無虹彩，軽度の白内障，緑内障，黄斑低形成などが両眼に認められた．水晶体表面には両眼とも粗な血管網があり，隅角鏡検査にて痕跡的な虹彩根部へ連絡しているのが観察された．この血管網は螢光前眼部検査にて造影された．染色体の核型は46,XX,t （11；13）（p13；p11）であった．のちに左腹部にWilms腫瘍が発見された．無虹彩の症例では眼科的に視能訓練，緑内障の悪化の可能性，角膜混濁などについて十分な経過観察が必要なほか，染色体分析を行い，Wilms腫瘍などの悪性腫瘍の発生を十分監視する必要があると考えられた．

A 5-month-old female infant presented with typi-cal aniridia associated by Wilms tumor. She showed horizontal nystagmus, aniridia, mild cataract, glau-coma and hypoplasia of the macula in both eyes. The anterior surface of the lens, in both eyes, wascovered by a vascular net with large meshes, which originated from the rudimentary, gonioscopically visible, root of the iris. Fluorescein angiography showed prompt dye filling in these vessels.

The karyotype of the chromosomes was 46, XX, t (11; 13) (p 13: p 11). Wilms tumor developed in the left adbomen.

The present case illustrates the necessity to make a thorough chromosome analysis in the presence of aniridia. A sufficient follow-up is also imperative for possible disorders such as visual disturbances, developmental glaucoma, corneal opacity and Wilms tumor.

Rinsho Ganka (Jpn J Clin Ophthalmol) 41(4) : 379-382, 1987