常染色体優性遺伝性と思われたパターンジストロフィの1症例

A case of pattern dystrophy of presumed autosomal dominant inheritance

　49歳男性の両眼に網状ジストロフィを認め，左眼には中心性漿液性網脈絡膜症の合併を認めた。漿液性剥離消失後のERGは両眼ともに正常，EOGのL／Dも正常であったが，高浸透圧応答とダイアモックス応答が左眼で減弱，7％炭酸水素ナトリウム応答は両眼ともに減弱していた。本症例の3人の子供のうち，娘2人を検索したところ，眼底所見および螢光眼底所見は両名ともに異常を認めなかったが，次女で7％炭酸水素ナトリウム応答が両眼ともに減弱し，高浸透圧応答が右眼で減弱していた。以上より本症例とその娘で網膜色素上皮の広範な障害が検出され，EOGの7％炭酸水素ナトリウム応答が遺伝形式の推定に利用できる可能性が示唆された。

A 49-year-old man showed reticular dystrophy in both eyes and central serous chorioretinopathy in the left eye. After resolution of serous detachment in the macula, the electroretinogram and L/D ratio in electrooculogram were normal in both eyes. Retinal pigment epitheliopathy was suggested by positive hyperosmolarity and acetazolamide responses.

We examined 2 daughters of his 3 children. Fun-duscopic and fluorescein angiographic findings were normal in both. The younger daughter showed positive hyperosmolarity response in one eye and bicarbonate response in both eyes.

The findings suggest that our electrooculogra-phic responses to non-photic stimuli, particularly bicarbonate response, may be of value in detecting retinal pigment epitheliopathy and in estimating the hereditary form in reticular pattern dystrophy.