白点状網膜炎を呈したE17環状染色体の1例

A Case of E17 Ring Chromosome Showing Retinitis Punctata Albescens

緒言

　今回，著者は極めて稀な17番環状染色体の1例の眼科的検査を施行する機会を得た。

　18番環状染色体の症例^1〜5）に高頻度にみられる顔面正中部の陥凹，眼間離開，内眼角贅皮，斜視，眼球の異常などはなかつたが，検影法にて＋2.5Dの遠視と眼底検査において白点状網膜炎の所見が観察された。

An extremely rare case of E 17 ring chromo-some with abnormal fundi was presented. The patient was a 12-year-old girl. Her physical and cytological findings had been fully described! elsewhere.⁶⁾

Ophthalmoscopically, the optic nerve and reti-nal vessels were intact, but there were numer-ous, white or yellow-white, uniform, dot-like lesions scattered on the whole retina in both eyes, which had been diagnosed as retinitis punctata albescens.

The ERP examination revealed a subnormal ERP responese, while scotopic and photopic ERG findings were completely normal in both eyes.