To describe a rare, unexplained case of bilateral peripapillary choroidal neovascularization (PPCNV) in a child with X-linked agammaglobulinemia (XLA, Bruton disease). A 13-year-old boy with XLA on regular intravenous immunoglobulin replacement presented with rapidly progressive bilateral vision loss. Best-corrected visual acuity (BCVA) was 20/100 OU. Fundus exam and multimodal imaging confirmed bilateral PPCNV with subretinal fluid. Extensive systemic, infectious, and immunologic investigations, including MRI, CT, cerebrospinal fluid, and broad serology panels, were unrevealing; interpretation of serologies was confounded by IVIG therapy. Intravitreal aflibercept led to initial anatomical and functional improvement, but macular atrophy subsequently developed, with limited visual recovery. No ocular inflammation or congenital optic disc anomaly was identified. Pediatric PPCNV is rare and usually secondary to inflammation or congenital anomalies. To our knowledge, this is the first report of PPCNV in XLA. Although the association appears coincidental, collaborative reporting of similar cases is needed to explore possible immunologic contributions and refine treatment strategies.
Kerkouri et al. (Tue,) studied this question.