Abstract
Abstract: :
Purpose: To determine the natural course of disease in patients with juvenile X–linked retinoschisis (XLRS). Methods: Thirty–eight patients (ages 9 to 65 years) participated in the study. Best– corrected visual acuity, Goldmann visual fields, slit–lamp biomicroscopy of the anterior segment and fundus examination were obtained. Visual acuity findings at the most recent and initial visits were compared. The range of follow–up was from one to twenty–eight years with a mean of 12.3 years. Twenty–six patients were followed for more than 5 years and 11 patients for 15 years or more. Results:Foveal lesions varied from radial striations (2.6%), microcystic lesions (34.2%), honeycomb–like cysts (7.9%) or their combinations (31.6%). Nonspecific foveal pigmentary changes, such as pigment mottling, occurred in three patients (7.9%), three additional patients showed an atrophic–appearing lesion (7.9%) in the macula while three other patients (7.9%) selectively showed a loss of the foveal reflex. Twelve patients (31.6%) showed situs inversus of their retinal vessels. Of the thirty–eight patients who were seen more than once, just four showed a reduction of their visual acuity of more than two lines logMAR equivalent in either eye since their initial visit. Peripheral schisis was clinically apparent in ten patients (31.6%) on funduscopic examination. Eight patients (21%) had either peripheral vitreous bands or a whitish lace–like appearance of the retina in the infero–temporal quadrant. Eighteen patients (47.4%) showed a funduscopically normal retinal periphery. Nevertheless, of the fifteen patients with a funduscopically normal retinal periphery on whom Goldmann visual fields were obtained, eleven patients (73%) showed a supero–nasal peripheral restriction. Conclusion: Visual acuity in patients with juvenile X–linked retinoschisis can remain stable over an extended period of time. However, those with pigmentary changes within the fovea, such as pigment mottling or an atrophic–appearing lesion, tend to show a more appreciable reduction of their visual acuity compared to those patients with cystic–appearing lesions in the fovea.
Keywords: retinal degenerations: hereditary • visual acuity • clinical (human) or epidemiologic studies: natural history