Phenotypic variance in Calpain-5 retinal degeneration

Phenotypic variance in Calpain-5 retinal degeneration

Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The CAPN5 p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis...

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Bibliographic Details
Main Authors: Peter H. Tang, Teja Chemudupati, Katherine J. Wert, James C. Folk, MaryAnn Mahajan, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
ADNIV
CAPN5
Retinitis pigmentosa
Retinal degeneration
Calpain
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993620300232
Description
Summary:Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: 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. Conclusions/Importance: 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.
ISSN:2451-9936

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