Bilateral X-Linked Juvenile Retinoschisis: A Case Report
Abstract: X-linked juvenile retinoschisis (XLRS) is a rare hereditary retinal dystrophy that primarily affects young males, often leading to progressive visual impairment. We report a case of a 10-year-old boy presenting with a three-year history of bilateral, painless reduction in vision. A significant maternal family history suggested an X-linked inheritance pattern. While anterior segment examination was unremarkable, fundoscopic findings were subtle. Optical coherence tomography (OCT) played a pivotal role in the diagnosis, revealing characteristic intraretinal schisis cavities within the macular region of both eyes. The patient was managed conservatively with a focus on long-term monitoring for sight-threatening complications such as retinal detachment or vitreous hemorrhage. This case highlights the indispensable role of OCT as a non-invasive diagnostic "gold standard" in identifying XLRS when clinical signs are minimal, facilitating early intervention and familial genetic counselling.
Keywords: X-linked juvenile retinoschisis, optical coherence tomography, macular schisis, pediatric ophthalmology, RS1 gene
How to Cite?: Dr. Keerthi Sravanthi Karumuri, Dr. Jaswanth Kadiyala, Dr. Dandamudi Anvesh, "Bilateral X-Linked Juvenile Retinoschisis: A Case Report", Volume 15 Issue 1, January 2026, International Journal of Science and Research (IJSR), Pages: 1745-1746, https://www.ijsr.net/getabstract.php?paperid=SR26129221504, DOI: https://dx.doi.org/10.21275/SR26129221504