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 【特殊な網膜ジストロフィ】

小児期に遭遇する網膜ジストロフィ

著者： 近藤寛之¹

所属機関： ¹産業医科大学眼科学教室

ページ範囲：P.1505 - P.1510

●小児の網膜ジストロフィは遺伝子異常によって起こり，その原因や臨床像はきわめて多様である。

●OCTや眼底自発蛍光などの画像診断により新しい知見が報告されている。

●海外では原因遺伝子の補充を目的とする遺伝子治療の承認・臨床治験が進んでおり，遺伝子診断の重要性も増すと思われる。

参考文献

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