LONG-TERM OUTCOMES OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY

Purpose:To determine the long-term functional and structural outcomes of intravitreal anti-VEGF therapy for macular neovascularization (MNV) in PRPH2-associated retinopathy.Methods:Multicenter retrospective case series including patients with molecularly confirmed PRPH2-associated retinopathy complicated by unilateral MNV. Best-corrected visual acuity (BCVA) and central subfield thickness (CST) were selected as outcome measures and compared between eyes with MNV undergoing anti-VEGF therapy and fellow eyes.Results:Six patients affected by PRPH2-associated retinopathy developed MNV at a median age of 55 years (range, 34 to 71). Two novel PRPH2 variants were found [c.499del p.(Cys150Phefs∗3) and c.660dup p.(Pro221Alafs∗80)]. In all patients, the phenotype was characterized by a pattern dystrophy with multifocal flecks. At baseline, eyes with MNV had a median BCVA (logMAR) of 0.2 (range, 0.2 to 0.7), corresponding to 20/32 Snellen, while the median CST was 320 m (range, 228 to 362). After a median follow-up of 6.2 years and 5.5 injections per patient, 5 eyes (83%) retained a BCVA of at least 20/32 Snellen, while CST decreased by a median of -69 m (range, -117 to +15). No additional CST thinning was observed in eyes with MNV compared with their fellow eyes. In 4 eyes (67%), OCT angiography revealed large neovascular networks growing below the retinal pigment epithelium that persisted after resolution of exudation.Conclusion:A favorable long-term outcome can be obtained in PRPH2-associated retinopathy complicated by MNV when timely intravitreal anti-VEGF therapy is administered. Further research is needed to understand the significance of subretinal pigment epithelium neovascular networks.