两个ROSAH类综合征的病例仅限于眼科呈现
Laurie Mourozeau1, Virginie Pichon2,3, Aymane Bouzidi3
1Department of Ophthalmology, University Hospital of Angers, Angers, France.
Ocular immunology and inflammation
|January 23, 2025
概括
在ALPK1基因中,一种罕见的遗传变异导致一种类似ROSAH的综合征,呈现为严重的视网膜缩和视神经胀. 这种疾病对标准治疗有抗性,缺乏典型的全身症状.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 医学研究 医学研究
背景情况:
- 视神经综合征 (ROSAH) 带有衰退性视神经-日性缩是一种罕见的遗传性视网膜疾病.
- ROSAH综合征的临床表现和遗传基础尚未完全理解.
研究的目的:
- 描述两位患有ROSAH类综合征的家庭成员的临床过程和遗传发现.
- 研究ALPK1基因变异在隔离的视网膜发育不良和视神经胀中的作用.
主要方法:
- 观察案例报告与长期跟进.
- 临床检查包括光学连贯性断层扫描,血管学和电生理学.
- 整体外基因组测序用于遗传分析.
主要成果:
- 同一个家庭的两个受影响的个体出现了严重的视神经透和视网膜色素缩.
- 眼内炎症存在,但对免疫抑制疗法没有反应.
- 整体外基因组测序在两个患者中都发现了一个共享的ALPK1误解致病变体 (c.710C>T; p.
结论:
- 与ROSAH综合征相关的ALPK1变体可以表现为严重的视网膜缩和类似于脑膜炎的呈现.
- 这种呈现可能对常规免疫抑制药物有抗性.
- 这种综合征可以在没有通常在ROSAH综合征中观察到的全身症状的情况下发生.
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