Abstract
To evaluate and correlate findings obtained by optical coherence tomography (OCT) imaging with visual acuity (VA) and macular lesions in patients with X-linked retinoschisis (XLRS). Prospective comparative case series. Thirty-one patients with confirmed XLRS. Best-corrected VA was determined using Early Treatment Diabetic Retinopathy Study charts, and a dilated funduscopic examination was performed on all patients. For all patients, the macula in each eye was OCT imaged. A correlation between VA, macular presentation, and OCT images was determined. Analysis of findings on OCT images, including foveal thickness and the area of macular cystic-appearing lesions, and their correlation with VA. Twenty-five patients with funduscopically evident cystic-appearing macular lesions demonstrated cysticlike spaces on OCT images. No statistically significant correlation was observed between the macular area of the cysticlike spaces, foveal thickness, and VA. Three patients with no funduscopic or OCT evidence of foveal cysts demonstrated thinning of the fovea on OCT images and more extensive reduction of their VA. Retinal papillomacular bundle nerve fiber layer thickness on OCT images showed no significant difference between control and patient groups. In XLRS patients with cystic-appearing macular lesions, there was a lack of correlation between VA, foveal thickness, and cystic area. The anatomical appearance of smaller perifoveal cysts on OCT imaging was most consistent with their location being primarily within the inner nuclear layer of the retina. In older patients, macular cysts were no longer apparent clinically or by OCT imaging, and foveal thickness was reduced. The findings on OCT images are consistent with the hypothesis of a primary Muller cell defect in patients with XLRS.
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