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Juvenile Retinoschisis 

Juvenile Retinoschisis
Chapter:
Juvenile Retinoschisis
Author(s):

Paul A. Sieving

and Lucia Ziccardi

DOI:
10.1093/med/9780195326147.003.0024
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date: 29 November 2020

Juvenile retinoschisis (XLRS) is an X-linked, bilateral vitreoretinal dystrophy that manifests early in life and has an estimated incidence between 1:5,000 and 1:25,000 in the male population. Intraretinal cysts form in the macula and impair visual acuity, and in half of the affected males, the peripheral retina splits into sheets of tissue and causes a substantial decrease in visual field sensitivity. This chapter discusses the clinical manifestations and the carrier state, vision function tests, differential diagnosis, histopathology, gene identification, genetic counselling, molecular pahtophysiology, classification, management, mouse models and experimental approaches.

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