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FUNDUS FINDINGS AND LONGITUDINAL STUDY OF VISUAL ACUITY LOSS IN PATIENTS WITH X-LINKED RETINOSCHISIS

Purpose: To determine the presence of fundus findings and natural course of visual acuity change in patients with juvenile X-linked retinoschisis (XLRS). Methods: A retrospective longitudinal study of 38 patients with juvenile XLRS (age range, 9–65 years) was conducted. Best-corrected visual acuity, Goldmann visual fields, and results of slit-lamp biomicroscopy of the anterior segment and dilated fundus examination were obtained for all patients. Visual acuity findings at the most recent and initial visits were compared. Follow-up ranged from 1 year to 28 years (mean, 10.2 years). Twenty-five patients were observed for >5 years, and 11, for ≥15 years. Results: Foveal lesions varied from predominantly radial striations (3%), microcystic lesions (34%), honeycomblike cysts (8%), or their combinations (31%) to non–cystic-appearing foveal changes, such as pigment mottling (8%), loss of the foveal reflex (8%), or an atrophic-appearing lesion (8%). Twelve patients (32%) had situs inversus of their retinal vessels. We observed a superior nasal restriction in the peripheral visual field even in the absence of clinically apparent peripheral retinoschisis. Of the 38 patients who were seen more than once, using logarithm of the minimum angle of resolution (logMAR) comparison, 4 had a decrease in visual acuity of >0.1 logMAR, equivalent to >1 line on an ETDRS chart, in their better seeing eye, and 3 had a reduction in visual acuity of >0.2 logMAR in their better eye. Conclusions: A limited change in visual acuity was observed in our cohort of 38 patients with XLRS even over an extended period. However, those patients with non–cystic-appearing changes within the fovea, including pigment mottling or an atrophic-appearing lesion, tended to have a more appreciable degree of visual acuity impairment compared with those patients with a cystic-appearing foveal change.