Macular neovascularization in patients with Gyrate atrophy

Two cases of macular neovascularization (MNV) in female patients with genetically confirmed Gyrate Atrophy of the choroid and retina (GACR) are presented. Both patients experienced sudden central vision loss, with subfoveal MNV confirmed on multimodal imaging including optical coherence tomography angiography. The first patient showed improvement in best-corrected visual acuity (BCVA) from 20/60 to 20/30 following three monthly intravitreal anti-VEGF injections, followed by a treat-and-extend regimen. The second patient experienced five MNV recurrences over a five-year period, each managed with anti-VEGF therapy, achieving long-term visual stability at 20/40. Persistent subretinal fibrosis developed in both cases. These cases represent the first reported instance of recurrent MNV in GACR. A review of clinical findings and existing literature suggests that the pathogenesis may involve both GACR-associated retinal pigment epithelial dysfunction and high myopia. Anti-VEGF therapy proved effective in preserving vision, but the recurrent nature of MNV highlights the necessity of long-term follow-up. This report provides novel insight into a rare but vision-threatening complication of GACR and underscores the importance of early detection, treatment, and continued monitoring in affected patients.