Choroidal neovascularization in a 16-year-old female carrier of a CHM mutation

BACKGROUND: Choroideremia is an X-linked retinal dystrophy in which female carriers are typically asymptomatic or exhibit only mild peripheral pigmentary changes. CASE PRESENTATION: We report a rare case of scarred choroidal neovascularization (CNV) in a 16-year-old female carrier with genetically confirmed CHM (c.819 + 1 G > C) mutation. The patient first presented at age 12 with unilateral visual decline (20/80) in the right eye. Fundus examination in the right eye demonstrated diffuse pigmentary alterations and central macular fibrosis. Four years later, visual acuity deteriorated to 20/250. Imaging showed subretinal hyperreflective material and established subretinal fibrosis consistent with a scarred neovascular membrane, without active exudation. CONCLUSION: Although severe phenotypes have been described in female carriers, CNVs have been reported across both pediatric and adult males, whereas reports in females to date have been limited to adults. Presentation during adolescence, already at a fibrotic and vision-limiting stage, is exceedingly uncommon. This case highlights the importance of careful screening and close follow-up of at-risk female relatives to enable timely detection and intervention.