Phenotypic variance in Calpain-5 retinal degeneration
Peter H. Tang, Teja Chemudupati, Katherine J. Wert, James C. Folk, MaryAnn Mahajan, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan
Abstract
To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this CAPN5 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. The phenotypic penetrance of a specific variant in CAPN5-vitreoretinopathy may vary significantly in severity. Patients with pigmentary retinal dystrophy may consider CAPN5 gene testing.