黄斑部変性を伴つたSjögren-Larsson症候群の1例

A case of Sjögren-Larsson syndrome with macular degeneration

緒　言

　Sjögren-Larsson症候群（以下S-L症候群と略）は魚鱗癬，痙性麻痺，精神薄弱を主徴とするまれな先天性疾患で，約1／4の症例に眼底黄斑部の変性を合併するといわれている。しかしながら黄斑部変性の詳細については，報告例が少ないためになお不明な点が多く，明らかなclinical en-tityを確立するに至つていない。

　今回私たちは，7歳4カ月男児の本症の黄斑部に，他の遺伝性黄斑部疾患ではみられない特徴ある所見を見出し，精査を行なう機会を得たので報告する。

A case of Sjögren-Larsson syndrome with ma-cular degeneration was reported. The patientwas a 7-year-old boy in a family of consangui-neous marriage. Main clinical manifestations of the case included congenital ichthyosis, spastic paralysis, mild degree of mental retardation, speech disturbance, convulsion, enamel dysplasia, congenital adhesion of tongue zonule, cystinuria, and photophobia.

Ophthalmologically, the visual acuity was 0.9 in the right eye and 0.9 in the left eye with corrected glasses for mixed astigmatism. Color vision and ERG were normal. Cornea and inter-media were clear.