Background: To study and analyze the demographics, clinical features and surgical indications in Congenital X-linked Retinoschisis (CXLRS) in Indian population.
Design: Retrospective case series.
Methods: It was a retrospective case series in 70 eyes which included all the patients diagnosed with CXLRS. A data set including demographic characteristics, phenotype, frequency of follow-up/surgery, surgical techniques and details, pre- and post-operative visual acuity and complications of CXLRS patients followed-up were obtained and analyzed.
Results: 70 eyes of 35 patients were included. Mean age at presentation was 6.9±3.8 years. Mean follow-up time was 65.2±30.4 months. Most common phenotype was type 3(77.1%) which is foveal schisis on clinical examination and OCT, as well as lamellar schisis on OCT, plus peripheral schisis on ophthalmoscopy. 5 eyes underwent vitreo-retinal surgery (VR), 2 eyes underwent laser therapy. Mean central foveal thickness (microns) was 532±223.1 µm. Median best-corrected visual acuity (BCVA) of patients undergoing VR surgery (LogMAR) was 1.8(1.1-2). Rhegmatogenous retinal detachment (RRD) was the most common cause of surgery in patients with CXLR. Median best-corrected final VA (LogMAR) was 0.6(0.2-2.0). Most frequent VR procedure was pars plana vitrectomy and most common tamponade used was silicone oil (100%).
Conclusion: Family history and screening is important. RRD is a vision threatening complication of XLRS, surgical intervention in the form of vitrectomy or scleral buckle can be performed. Multi-modal imaging like optical coherence tomography (OCT) can be an assistive tool.