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.
Fields of Study & Subjects
Retinal Development and Disorders
Retinal Diseases and Treatments
Ocular Oncology and Treatments
Publication details
- Journal / source
- International Journal of Science and Research (IJSR)
- Pages
- 1745–1746
- Publication date
- 2 January 2026