Retinal dystrophies and variants in PRPH2

ABSTRACT | This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.摘要 | 本报告纳入3例携带PRPH2基因变异的黄斑营养不良患者。该基因编码的外周蛋白2（Peripherin-2）在光感受器外节的形态发生与稳定性维持中发挥关键作用，其功能缺失可引发细胞凋亡。此外，PRPH2基因的致病变异与多种疾病相关，包括斑状营养不良、蝴蝶状黄斑营养不良、中心性晕状黄斑营养不良、成人起病型卵黄样黄斑营养不良、视锥-视杆营养不良，以及视网膜色素变性、白点状视网膜变性、莱伯先天性黑蒙、黄色斑点状眼底症和斯特格病。