Scheie症候群の眼所見

Ocular manifestations of Scheie syndrome

　Scheie症候群の1例を報告した。症例は46歳男性。臨床症状，尿中ムコ多糖分析，リンパ球・線維芽細胞ライソゾーム酵素，α-L-iduroni-dase分析により確定診断された症例である。眼症状は20年前からの両眼の視力障害と夜盲。視力は両眼とも0.1（矯正0.8）。角膜周辺部実質には霧を吹いたような淡い混濁があり，混濁は下方周辺部よりも上方周辺部実質に比較的強く，表層よりも深層で強くなる傾向があった。眼底には網膜色素変性症様の変性所見が認められた。本邦でScheie症候群と確診された報告例の中で，角膜や眼底などの所見について具体的に記載した最初の報告例と思われる。

A 46-year-old male showed systemic clinical features compatible with Scheie syndrome. Charac-teristic findings of the syndrome were present in lysosomal enzymes in peripheral lymphocytes and in fibroblasts cultured from the skin, and in labora-tory data including urinary mucopolysaccharides.Ophthalmic features included clouding in the peripheral corneas with diffuse ground-glass opac-ity in the stromal layer, retinal pigmentary degener-ation with midperipheral visual field defects and subnormal response on electroretinogram. Both parents and grandparents were cousins. His elder brother manifested similar systemic, ocular and laboratory features. This is the first report of detailed ocular findings in Scheie syndrome in Japan.