Optico-oto-diabetic syndromeの同胞例

Optico-oto-diabetic syndrome in 4 siblings

　François （1976年）は糖尿病，視神経萎縮，尿崩症，感音性難聴を合併した症候群をoptico-oto-diabetic syndromeと命名したが，現在のところ本邦における眼科領域の報告はない．我々は体症候群と思われる4兄弟（16歳，15歳，10歳，6歳）を経験した．家族歴に2代にわたる血族結婚がある．長男と次男は4主微をすべて備え，三男は眼症状のみを呈し，四男には糖尿病と感音性難聴がある．長男，次男，三男の眼症状はわずかに進行性で，その眼底像は視野・ERG・暗順応の結果から網膜色素変性症の一型と考えた．また，常染色体劣性遺伝の可能性が強い．

We observed 4 male siblings, aged 16, 15, 10 and 6, who manifested varying degrees of juvenile diabetes mellitus, optic atrophy, diabetes insipidus and hearing loss of sensorineural type. Consangui-neous marriages were present in the immediate two earlier generations. The eldest and the second brother manifested all of the four components of the syndrome. The third brother showed eye symptoms only. The youngest brother manifested diabetes mellitus and seonsorineural hearing loss.

The three elder brother manifested, besides high myopia, contracted visual field, non-recordable ERG and night blindness. Their fundus findings were suggestive of retinitis pigmentosa. The parents of the siblings were normal in every respect. The mode of inheritance appeared to be an autosomal recessive one.