RPE65,:

Kei Mizobuchi1, Takaaki Hayashi2,3, Shuhei Kameya4

  • 1Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8 Nishi-shimbashi, Minato-ku, Tokyo, 105-8461, Japan. kei10151202@icloud.com.

概括

这份病例报告详细介绍了一名患有RPE65相关视网膜病变的患者,这是一种罕见的遗传视网膜变,呈现出较轻微的表型. 基因分析揭示了RPE65基因中的复合异构性变体,影响了电网膜学结果.