Purpose: To establish a classification system for congenital X-linked retinoschisis (CXLRS) using clinical examination and optical coherence tomography (OCT).
Methods: Thirty-eight eyes of 19 patients who carried a clinical diagnosis of CXLRS were examined with OCT and clinical examination. Eyes were classified into one of four types based on a combination of clinical examination and OCT.
Results: All patients had bilateral OCT scanning performed at an average age of 8.64 years (range 2.24-17.4 years). Review of OCT scans revealed that 37 of 38 eyes had foveal schisis (97%) while 31 of 38 (82%) eyes had macular schisis deeper than the nerve fiber layer in areas of ophthalmoscopically normal macular retina. The authors termed this flat schisis phenomenon lamellar schisis. Thirty of 38 (79%) had peripheral bullous schisis cavities present.
Conclusions: OCT examinations of patients with CXLRS reveal lamellar schisis in areas of ophthalmoscopically normal macular retina in 82% of eyes with the clinical diagnosis of CXLRS. Using both clinical examination and OCT, the authors were able to identify foveal, lamellar, and peripheral schisis, lamellar schisis only identifiable by OCT. These findings allow the authors to propose a classification system. The authors hope this classification system will allow a better understanding of the natural history of CXLRS disease and allow testing of therapeutic options.
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