Bilateral pigmented paravenous retinochoroidal atrophy associated with unilateral angle-closure glaucoma and complicated cataract: A case report and literature review

Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare degenerative fundus disorder characterized by bone-spicule-like pigmentation along the retinal veins and atrophy of the retinochoroidal complex. Its pathogenesis may involve genetic, inflammatory, and metabolic abnormalities. PPRCA associated with glaucoma is extremely rare, and the potential relationship may involve anterior chamber angle abnormalities, altered choroidal blood flow, or genetic mutation-related retinal homeostatic imbalance. Here, we report a complex case of bilateral PPRCA complicated by unilateral angle-closure glaucoma (ACG) and cataract. Whole-genome copy number variation (CNV) analysis identified a duplication involving the CHM gene, suggesting a potential pathogenic role of CHM gene duplication in this phenotype.