x连锁少年视网膜裂。

4区医学 Q2 Biochemistry, Genetics and Molecular Biology

Advances in experimental medicine and biology Pub Date : 2025-01-01 DOI:10.1007/978-3-031-72230-1_10

Leticia Pinheiro, Stephen H Tsang, Tarun Sharma

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引用次数: 0

摘要

x连锁少年视网膜裂（XLRS）仅发生于男性，其特征是始于儿童早期的视力丧失；患者通常是学龄儿童，有视觉障碍，尤其是阅读障碍。据估计，全世界男性的患病率为每5000- 25000人中有1人。XLRS具有完全外显性，但具有可变的表达性。携带病毒的女性通常没有症状。

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X-Linked Juvenile Retinoschisis.

X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity. Carrier females generally remain asymptomatic.

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来源期刊

Advances in experimental medicine and biology 医学-医学：研究与实验

CiteScore

5.90

自引率

0.00%

发文量

465

审稿时长

2-4 weeks

期刊介绍： Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.