Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case

• Type of Material: Article
• Authors: Ghazala O'Keefe, Emory University; Adam M. Hanif, Emory University; Vinit B. Mahajan, Stanford University; Nieraj Jain, Emory University
• Language: English
• Date: 2019-04-15
• Publisher: TAYLOR & FRANCIS INC
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2019 Taylor & Francis Group, LLC.
• Final Published Version (URL): http://dx.doi.org/10.1080/09273948.2019.1582783
• Title of Journal or Parent Work: OCULAR IMMUNOLOGY AND INFLAMMATION
• Volume: 27
• Issue: 5
• Start Page: 706
• End Page: 708
• Grant/Funding Information: No funding was received during the course of this project.
• Keywords: uveitis; Science & Technology; calpain; CAPN5; ADNIV; Ophthalmology; Life Sciences & Biomedicine
• Research Categories: Health Sciences, Opthamology

Abstract

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare autoimmune condition that typically presents as progressive uveitis and vitreoretinal degeneration between the second and third decades of life. Though traditionally attributed to inherited mutations of the CAPN5 gene, few reports of de novo variants exist. This report of vision and hearing loss in a 3 year-old girl describes the youngest documented case of ADNIV due to a de novo pathogenic c.865C>T (p.Arg289Trp) CAPN5 variant, illustrating the early stages of this enigmatic disease process.