X-Linked Juvenile Retinoschisis.

Tarun Sharma, Stephen H Tsang, Leticia Pinheiro

Journal: Advances in experimental medicine and biology 2025;1467():51-56

PMID: 40736812

Abstract

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.

Address: Federal University of Goiás, Goiânia, Brazil.; Department of Ophthalmology, Columbia University, New York, NY, USA. [email protected].; Department of Ophthalmology, Columbia University, New York, NY, USA.

DOI: 10.1007/978-3-031-72230-1_10

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https://dx.doi.org/10.1007/978-3-031-72230-1_10

MeSH Terms: Humans, Retinoschisis, Male, Female, Eye Proteins, Child