Insights into X-Linked Retinoschisis: Clinical Characteristics, Diagnostic Approaches and Therapeutic Considerations

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Published

2024-08-30

DOI:

https://doi.org/10.56692/upjo.2024120105

Keywords:

X-linked retinoschisis, Hereditary macular disorders, Juvenile retinoschisis.

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Issue

Vol. 12 No. 01 (2024): UP Journal of Ophthalmology

Section

Review Article

License

Copyright (c) 2024 Samya Singh, Sandeep Saxena

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© Author, Open Access. This article is licensed under a CC Attribution 4.0 License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/byncsa/4.0/.

Authors

  • Samya Singh Department of Ophthalmology, King George’s Medical University, Lucknow, Uttar Pradesh, India.
  • Sandeep Saxena Department of Ophthalmology, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Abstract

X-linked retinoschisis (XLRS) is a bilateral hereditary macular disorder typically seen in males in the first decade of life.  Affected males generally present with diminished vision during early school life. The pathogenesis of XLRS involves mutations in the RS1 gene. Typical clinical features include a honeycomb or spoke-wheel-like appearance. SD-OCT, fundus autofluorescence, and electroretinography are important diagnostic tools. Patient education and routine screening help in early diagnosis and management of sight-threatening complications like RD and VH. Genetic counseling is advisable for relatives at risk.

How to Cite

1.
Samya Singh, Sandeep Saxena. Insights into X-Linked Retinoschisis: Clinical Characteristics, Diagnostic Approaches and Therapeutic Considerations. UPJO [Internet]. 2024 Aug. 30 [cited 2025 Jul. 27];12(01):15-7. Available from: https://upjo.org/index.php/upjo/article/view/508

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Author Biography

Samya Singh, Department of Ophthalmology, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Senior Resident and Fellow medical and surgical Retina, Department of Ophthalmology, KGMU, Lucknow