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X-linked Juvenile Retinoschisis

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Atlas of Inherited Retinal Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((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.

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Suggested Reading

  • Apushkin AM, Fisman GA. Use of dorzolamide for patients with X-linked retinoschisis. Retina. 2006;26:741–5.

    Article  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  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 University, New York, NY, USA

    Stephen H. Tsang

  2. Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA

    Stephen H. Tsang & Tarun Sharma

Authors
  1. Stephen H. Tsang
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  2. Tarun Sharma
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Corresponding author

Correspondence to Tarun Sharma .

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Editors and Affiliations

  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 University, New York, NY, USA

    Stephen H. Tsang

  2. Department of Ophthalmology, Edward S. Harkness Eye Institute NewYork-Presbyterian Hospital Columbia University, New York, NY, USA

    Tarun Sharma

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Tsang, S.H., Sharma, T. (2018). X-linked Juvenile Retinoschisis. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_10

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