Tang Peter H, Chemudupati Teja, Wert Katherine J, Folk James C, Mahajan MaryAnn, Tsang Stephen H, Bassuk Alexander G, Mahajan Vinit B
Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA.
Veterans Affairs Palo Alto Health Care System, Palo Alto, CA, USA.
Am J Ophthalmol Case Rep. 2020 Feb 24;18:100627. doi: 10.1016/j.ajoc.2020.100627. eCollection 2020 Jun.
To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV).
The p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs of uveitis or neovascularization.
CONCLUSIONS/IMPORTANCE: The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider gene testing.
对轻度钙蛋白酶5相关性新生血管性炎症性玻璃体视网膜病变（ADNIV）患者的表型进行特征描述。
p.R243L突变通常与二十多岁发病以及严重的进行性葡萄膜炎、视网膜新生血管形成和眼内纤维化有关。两名携带此变异的受试者仅分别在45岁和69岁时出现轻度周边视网膜色素变性和视网膜电图b波消失，无葡萄膜炎或新生血管形成的迹象。
结论/意义：CAPN5 - 玻璃体视网膜病变中特定变异的表型外显率在严重程度上可能有显著差异。患有色素性视网膜营养不良的患者可考虑进行基因检测。
Zotero 插件
