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

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http://www.sciencedirect.com/science/article/pii/S2451993620300232

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