Chapter

Juvenile Retinoschisis

Paul A. Sieving and Lucia Ziccardi

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0024

Series: Oxford Monographs on Medical Genetics

Juvenile Retinoschisis

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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.

Chapter.  6623 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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