Congenital X-Linked Retinoschisis in an Indian Population: A Single Center Study in 70 Eyes

To study and analyze the demographics, clinical features, and surgical indications in congenital X-linked retinoschisis (CXLRS) in an Indian population.

Retrospective case series.

This 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 postoperative visual acuity, and complications of CXLRS patients followed up were obtained and analyzed.

A total of 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 optical coherence tomography (OCT), as well as lamellar schisis on OCT, plus peripheral schisis on ophthalmoscopy. Five eyes underwent vitreo-retinal surgery (VR), and 2 eyes underwent laser therapy. Mean central foveal thickness was 532 ± 223.1 µm. Median best-corrected visual acuity 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 visual acuity (logMAR) was 0.6 (0.2-2.0). The most frequent VR procedure was pars plana vitrectomy, and most common tamponade used was silicone oil (100%).

Family history and screening is important. RRD is a vision-threatening complication of CXLRS, and surgical intervention in the form of vitrectomy or scleral buckle can be performed. Multi-modal imaging such as OCT can be an assistive tool.