LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY

To determine the long-term functional and structural outcomes of intravitreal anti-VEGF therapy for macular neovascularization (MNV) in PRPH2-associated retinopathy.

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.

Six patients affected by PRPH2-associated retinopathy had MNV at a median age of 55 years. Two novel PRPH2 variants were found [c.499del p.(Cys150Phefs*3), 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 (range) BCVA (logMAR) of 0.2 (0.2 to 0.7), corresponding to 20/32 Snellen, while the median (range) CST was 320 μm (228 to 362). After a median follow-up of 6.2 years and 5.5 injections per patient, 5 (83%) eyes retained a BCVA of at least 20/32 Snellen, while CST decreased by a median (range) of -69 μm (-117 to +15). No additional CST thinning was observed in eyes with MNV compared to their fellow eyes. In 4 (67%) eyes, OCT angiography revealed large neovascular networks growing below the retinal pigment epithelium (RPE) that persisted after resolution of exudation.

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 sub-RPE neovascular networks.