Insights into X-Linked Retinoschisis: Clinical Characteristics, Diagnostic Approaches and Therapeutic Considerations
Year: 2024
Type: article
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.
Source: UP Journal of Ophthalmology
Authors: Samya Singh, Sandeep Saxena
Institution: King George's Medical University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4405869139