臨床眼科75巻12号

2021年11月発行

特集 網膜色素変性のアップデート 【網膜色素変性：最近の話題】

遺伝子解析でわかったこと

著者： 小栁俊人¹²³ 秋山雅人¹³⁴ 園田康平¹

所属機関： ¹九州大学大学院医学研究院眼科学分野 ²名古屋大学医学部附属病院眼科 ³理化学研究所統合生命医科学研究センターゲノム解析応用研究チーム ⁴九州大学大学院医学研究院眼科病態イメージング講座

ページ範囲：P.1467 - P.1474

●近年，稀な疾患である遺伝性網膜変性疾患においても遺伝子研究の大規模化がみられる。

●日本人の網膜色素変性（RP）の1,204例に対する原因遺伝子の検索により，主要な原因として高頻度にみられる東アジア人に特異的な変異を検出した。

●EYSは日本人のRPを特徴づける重要遺伝子である。

●病因変異保有者の原因究明が，本邦のRPの遺伝的原因のさらなる解明のために重要である。

参考文献

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