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X-linked Juvenile Retinoschisis

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

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.

Keywords

X-linked Juvenile Retinoschisis 

Suggested Reading

  1. Apushkin AM, Fisman GA. Use of dorzolamide for patients with X-linked retinoschisis. Retina. 2006;26:741–5.CrossRefGoogle Scholar
  2. Molday RS, Kellner U, Weber BHF. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012;31:195–212.CrossRefGoogle Scholar
  3. Tsang SH, Vaclavik V, Bird AC, Robson AG, Holder GE. Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol. 2007;125:259–67.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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