在患有同卵性RP1L1变异的儿科患者中,形巨病的演变
1Department of Ophthalmology, IRCCS Bambino Gesu Children's Hospital, Rome, Italy.
American journal of ophthalmology case reports
|April 16, 2025
概括
在儿童中,RP1L1基因变异会导致早期发病的小形黄斑病变. 这个儿科病例显示了5年来疾病的波动过程,与成人OMD不同.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 视网膜色素炎 1-like 1 黄斑病是一种最近定义的疾病,与RP1L1基因变异有关.
- 虽然经常与隐性黄斑发育不良症 (OMD) 相关,但成年人中RP1L1形黄斑病例很少,缺乏纵向数据.
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