臨床眼科69巻12号

2015年11月発行

特集 遺伝性網膜疾患のトータルケア 【基礎と診断】

遺伝性網脈絡膜疾患の診断と予後

著者： 林孝彰¹

所属機関： ¹東京慈恵会医科大学眼科学講座

ページ範囲：P.1608 - P.1616

はじめに

　遺伝性網脈絡膜疾患と聞いて，まず思い浮かぶ疾患は網膜色素変性（retinitis pigmentosa：RP）や錐体ジストロフィであろう。大部分の遺伝性網脈絡膜疾患は，単一遺伝子疾患（メンデル遺伝病），すなわち1つの遺伝子異常によって発症する。遺伝形式としては，常染色体優性遺伝，常染色体劣性遺伝，X連鎖性劣性遺伝がある。遺伝性網脈絡膜疾患は，その病態から大きく4つすなわち，①RPを代表とする進行性夜盲性疾患，②停在性夜盲，③錐体ジストロフィを代表とする錐体機能不全，④黄斑ジストロフィに分類される。本稿では，成人発症の遺伝性網脈絡膜疾患を中心に，診断のために必要な問診・検査，各疾患の特徴，視機能予後について述べる。

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