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在X链接的阿尔波特综合征中角膜内皮新血管化和玻璃眼

Lin Zhou¹, Yao Zhang², Chaohua Tian^2,3

¹Department of Ophthalmology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

European journal of ophthalmology

|February 14, 2025

概括

一种新型的COL4A5基因变异导致X链接的阿尔波特综合征在一个患有角膜新血管化和玻璃眼症等异常眼睛疾病的妇女身上. 这扩大了对综合征多种症状的理解.

科学领域:

遗传学遗传学是一个
眼科医生眼科眼科
腎臟病學 (nephrology) 是一種醫學.

背景情况:

与X相关的阿尔波特综合征 (XLAS) 是由COL4A5变体引起的,通常表现为脏疾病,听力损失和眼部异常.
XLAS的临床谱系很广泛,但特定的眼部表现可能在受影响的个体之间有很大的差异.

研究的目的:

报告一种与 COL4A5 变异相关的角膜内皮新血管化和玻璃眼的新型表型.
扩大对X链接阿尔波特综合征临床异质性的理解.

主要方法:

一个64岁的妇女的病例介绍,她患有渐进的视力损失.
眼科检查包括眼内压力, funduscopy 和光学连贯性断层扫描.
功能测试 (尿液分析).
整体外基因组测序 (WES) 用于识别遗传变异.

主要成果:

这位患者出现了角膜内皮新血管化,玻璃眼,核白内障,视网膜稀疏,出血和蛋白尿.
整体外基因组测序确定了COL4A5 (c.3980G>T (p.G1327V)) 中的一种新型半错觉致病变体.
在患者健康的女儿身上,已识别的变异不存在.

结论:

这一案例突出显示了 COL4A5 变体与包括角膜内皮新血管化和玻璃眼在内的表型之间的新兴关联.
这些发现扩大了已知的X链接阿尔波特综合征的临床表现,强调了它的遗传和表型变异性.

关键词:

阿尔波特综合征是什么意思在 COL4A5A5 中使用.角膜内皮细胞新血管化眼光障碍眼光障碍眼光障碍眼光障碍

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