Choroidal neovascularization in a child with infantile primary hyperoxaluria treated with bevacizumab

Abstract

Fundus manifestations of primary hyperoxaluria include crystalline deposits, focal or diffuse macular hyperpigmentation, and subretinal fibrosis. Choroidal neovascularization has been hypothesized to underlie the pathogenesis of subretinal fibrosis, yet its manifestations are rarely observed. We report a case of infantile primary hyperoxaluria type 1 in a 17-month-old infant with macular subretinal fluid and subretinal hemorrhage that was associated with leakage on fluorescein angiography and responded to bevacizumab treatment, consistent with choroidal neovascularization. This case suggests that choroidal neovascularization may contribute to subretinal fibrosis and subsequent vision loss in infantile primary hyperoxaluria and may benefit from anti-vascular endothelial growth factor therapy.