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28歳女性が左眼緑内障で受診した。矯正視力は1.0,眼圧は薬物投与下で42mmHgであった。左眼の瞳孔縁の全周に先天性虹彩外反,隅角全周にわたる虹彩高位付着,緑内障性乳頭陥凹があり,先天性虹彩外反症候群と診断した。左側に顔面片側過形成と眼瞼下垂があった。マイトマイシンCを併用した線維柱帯切除を行い,眼圧は正常化した。右眼には全く異常はなかった。本症例は,先天性虹彩外反症候群に同側の顔面片側過形成と眼瞼下垂が併発した本邦では最初の報告である。
A 28-year-old woman presented with glaucoma in her left eye. Her corrected visual acuity was 1.0. The intraocular pressure was 42 mmHg under medication. The left eye showed congenital iris ectropion around the pupil, high insertion of the iris along the whole chamber angle and glaucomatous disc cupping. She was diagnosed as congenital iris ectropion syndrome. She also showed left facial hemihypertrophy and blepharoptosis. Trabeculectomy with mitomycin C induced control of intraocular pressure. No abnormalities were present in the right eye. To our best knowledge, this is the first case of congenital iris ectropion syndrome with ipsilateral facial hemihypertrophy and blepharoptosis reported in Japan.
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