Insights into X-Linked Retinoschisis: Clinical Characteristics, Diagnostic Approaches and Therapeutic Considerations
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https://doi.org/10.56692/upjo.2024120105Keywords:
X-linked retinoschisis, Hereditary macular disorders, Juvenile retinoschisis.Dimensions Badge
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Copyright (c) 2024 Samya Singh, Sandeep Saxena

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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.Abstract
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