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

doi:10.1016/j.ajoc.2020.100627

Back

Phenotypic variance in Calpain-5 retinal degeneration

Journal article

Open access

Peer reviewed

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 and Vinit B Mahajan

American journal of ophthalmology case reports, Vol.18, p.100627

06/2020

DOI: 10.1016/j.ajoc.2020.100627

PMCID: PMC7132063

PMID: 32274441

Files and links (1)

url

https://doi.org/10.1016/j.ajoc.2020.100627View

Published (Version of record) Open Access

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.

Retinal degeneration

Calpain

ADNIV

Retinitis pigmentosa

CAPN5

Details

Title: Subtitle: Phenotypic variance in Calpain-5 retinal degeneration
Creators: Peter H Tang - Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA
Teja Chemudupati - Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA
Katherine J Wert - Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA
James C Folk - Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA
MaryAnn Mahajan - Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA
Stephen H Tsang - College of Physicians & Surgeons, Columbia University, New York, NY, USA
Alexander G Bassuk - Department of Pediatrics, University of Iowa, Iowa City, IA, USA
Vinit B Mahajan - Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA
Resource Type: Journal article
Publication Details: American journal of ophthalmology case reports, Vol.18, p.100627
DOI: 10.1016/j.ajoc.2020.100627
PMID: 32274441
PMCID: PMC7132063
NLM abbreviation: Am J Ophthalmol Case Rep
ISSN: 2451-9936
eISSN: 2451-9936
Publisher: Elsevier Inc
Grant note: DOI: 10.13039/100000002, name: NIH, award: R01EY024665, R01EY025225, R01EY024698, R21AG050437, P30EY026877; DOI: 10.13039/100001818, name: Research to Prevent Blindness, New York, NY
Language: English
Date published: 06/2020
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics); Ophthalmology and Visual Sciences
Record Identifier: 9984070963702771

Metrics

43 Record Views