Natural history of X-linked juvenile retinoschisis: long-term analysis of anatomic and visual outcomes

Purpose. This is a long-term natural history study performed in order to describe the anatomic findings and level of visual impairment observed over time in a series of patients with X-linked juvenile retinoschisis. Methods. The authors retrospectively studied the charts and serial fundus photographs of 25 male patients diagnosed with X-linked juvenile retinoschisis who were followed long-term at one academic institution. Each patient underwent a full medical history as well as measurements of best-corrected visual acuity, refractive error, slit-lamp biomicroscopy, indirect ophthalmoscopy, and color fundus photography. Results. Mean patient age on initial examination was 16 years (range: 12 weeks to 44 years), with an average follow-up period of 14.5 years (range: 1 year to 26 years). Visual acuity on presentation averaged 20/110 (range: 20/30 to 20/400) with over 40% of patients with initial vision of 20/40 or better. Hyperopia was the most common spherical error (79% of eyes). During the follow-up period, there was minimal change observed in mean visual acuity. Any further visual loss was moderate and followed a bimodal pattern, ocurring either within the first two decades of life or after the fifth decade. Macular changes were observed in all eyes, whereas peripheral retinoschisis was documented in 60%. The most common vision-threatening complications occurred more frequently during the first two decades of life, and were observed to stabilize over time. These consisted of inner layer retinal hole, retinal detachment, and vitreous hemorrhage. Bullous peripheral retinoschisis with subsequent spontaneous regression was described in two infants. The older patients examined were found to have a higher degree of atrophie macular changes and less foveal schisis. Conclusions. Most patients with X-linked juvenile retinoschisis can maintain a functional level of vision throughout life. Visual loss early in life is caused by foveal schisis coupled with other complications such as vitreous hemorrhage and retinal detachment. Atrophie changes in the macula may contribute to further moderate loss of vision later in life.