先天緑内障を合併したPierre-Robin症候群の1例

A case of Pierre-Robin syndrome with congenital glaucoma

　13歳の女児が出生当時からの両眼の先天緑内障のため受診した。曾祖父母はいとこ婚であり，曽祖母の姉は少女期から両眼失明していた。眼科的には，先天緑内障，角膜混濁，網膜剥離，高度近視，水平眼振があった。全身的には小下顎，高口蓋，不正咬合，漏斗胸があり，いずれも成長に伴って顕著化してきた。2度の線維柱帯切除術で両眼の眼圧は正常化した。出生時に眼病変が多発しているときには，全身奇形の表現である可能性があり，診断確定には長期にわたる経過観察が必要である。

A 13-year-old girl was referred to us for bilateral congenital glaucoma since infancy. Her paternal great grandparents were cousins. One sister of her paternal great grandmother was reportedly blind during childhood. The girl also showed corneal opacity, high myopia, retinal detachment and horizontal nystagmus. Systemically, there were micrognathia, high palate, malocclusion and funnel chest which had become more conspicuous with advance of age. These features led to the diagnosis of Pierre-Robin syn-drome. The intraocular pressure became normalized after repeated trabeculectomy for both eyes. This case illustrates that multiple ocular lesions existing from birth may be a manifestation of systemic anomaly which becomes apparent later in life.