Scott Nathan L, Tran Kimberly D, Russell Jonathan F, Hinkle John W, Cernichiaro-Espinosa Linda A, Lauer Andreas, Berrocal Audina M
Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):120-124. doi: 10.3928/23258160-20190129-10.
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary ocular disorder characterized by incomplete or abnormal development of peripheral retinal vasculature. The genes responsible for this disorder are associated with the wingless-related integration site (Wnt) signaling pathway, a critical pathway for the development of normal retinal vasculature. A pathogenic variant in any one of these genes may disrupt retinal vasculogenesis. Furthermore, the type and number of pathogenic variants may influence the severity of disease and clinical course. Here, the authors identify a novel pathogenic variant in the NDP gene, not previously described in the literature. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:120-124.].
家族性渗出性玻璃体视网膜病变（FEVR）是一种罕见的遗传性眼部疾病，其特征为周边视网膜血管系统发育不完全或异常。导致这种疾病的基因与无翅相关整合位点（Wnt）信号通路有关，该信号通路是正常视网膜血管发育的关键通路。这些基因中任何一个的致病性变异都可能破坏视网膜血管生成。此外，致病性变异的类型和数量可能会影响疾病的严重程度和临床病程。在此，作者在NDP基因中鉴定出一种新的致病性变异，此前文献中未曾描述过。[《眼科手术、激光与视网膜成像》。2019年；50:120 - 124。]
