Harboyan症候群の兄妹例

Family Cases of Harboyan Syndrome

I．はじめに

　Harboyan^1）は家族内に発症した先天性角膜ジストロフィーに進行性感音難聴が合併した3例を報告し，Konigsmarkはその自著Genetic andMetabolic Deafness^2）のなかでこれをHarboyan症候群として紹介した。Harboyan症候群の要件は①先天性角膜ジストロフィー，②若年に発症しゆっくり進行する感音難聴，③常染色体性劣性遺伝とされている。今回われわれは先天性角膜ジストロフィーに両側進行性感音難聴を伴ったHarboyan症候群と考えられる兄妹例を経験したので若干の文献的考察を加えて報告する。

　The authors presented two cases, a pair of siblings of hereditary corneal dystrophy in association with progressive sensorineural hearing loss. The inheritance mode of these cases was considered as an autosomal recessive pattern. This clinical entity was first reported by Harboyan (1971) and presented as Harboyan syndrome by Konigsmark. This was thought to be the first report of cases with Harboyan syndrome in Japan.

　An 18-year-old boy and his sister, a 16-year-old girl, presented bluish-white opacity of cornea with-out vascularization. The ophthalmologic findings in these cases were diagnosed as congenital corneal dystrophy.

　Bilateral symmetrical sensorineural hearing loss was shown by pure tone audiometry. Since Bekesy audiometry revealed a type of Jerger II, inner ear failure was suggested.