臨床眼科77巻1号

2023年01月発行

特集 日本の眼の難病—何がどこまでわかってきたのか？

レーベル遺伝性視神経症

著者： 中村誠¹ 上田香織¹

所属機関： ¹神戸大学大学院医学研究科外科系講座眼科学分野

ページ範囲：P.78 - P.85

●レーベル遺伝性視神経症は，母系遺伝形式をとる，若年男性に好発する両眼性視神経症である。

●ミトコンドリアDNAの主にミスセンス変異が母系遺伝ならびに網膜神経節細胞死と視神経萎縮に関与すると考えられる。

●喫煙などの環境因子，エピジェネティック因子，核遺伝子変異が発症を制御すると考えられる。

参考文献

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2）Wallace DC, Singh G, Lott MT et al：Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242：1427-1430, 1988

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