Swept-source and optical coherence tomography angiography in patients with X-linked retinoschisis

Purpose To explore the structural features of juvenile X-linked retinoschisis (XLRS) using swept-source-optical coherence tomography (SS-OCT) and optical coherence tomography angiography (OCT-A). Design Retrospective, observational cross-sectional study. Patients and methods Nine patients (18 eyes) diagnosed with juvenile XLRS were included. SS-OCT and OCT-A were used to evaluate the characteristics of the inner/outer retina and the choroid. Results SS-OCT showed that the inner nuclear layer (INL) was the most commonly affected area (16/18 eyes; 89%). No significant differences in central macular thickness (CMT) or subfield choroidal thickness (SFCT) were evidenced between eyes (CMT: 364 mu m in the right eye vs 320 mu m in the left eye; SFCT: 305 vs 307 mu m; P=0.895). Best-corrected visual acuity (BCVA) did not correlate with CMT (rs=-0.19; P=0.445) or SFCT (rs=0.06; P=0.795). BCVA was significantly correlated with the following defects: outer plexiform layer (OPL; rs=0.50; P=0.036); external limiting membrane (ELM; rs=0.65; P=0.003); ellipsoid portion of inner segment (EPIS; rs=0.67; P=0.002); and the cone outer segment tips (COST; rs=0.69; P=0.001). Schisis at the INL revealed a spoke-like pattern in the foveal region and a reticular pattern in the parafoveal region on en-face imaging. In cases in which the schisis affected the OPL, multiple polygonal hyporeflective cavities were observed in the foveal region. Conclusions The hyporeflective spaces on SS-OCT were primarily located at the INL and OPL. BCVA did not correlate with CMT or SFCT; however, ELM, EPIS, and COST defects were significantly correlated with worse BCVA. There was a positive correlation between age and SFCT.