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Phenotypic variance in Calpain-5 retinal degeneration

Authors :
Mary Ann Mahajan
Stephen H. Tsang
James C. Folk
Vinit B. Mahajan
Alexander G. Bassuk
Katherine J. Wert
Peter H Tang
Teja Chemudupati
Source :
American Journal of Ophthalmology Case Reports, American Journal of Ophthalmology Case Reports, Vol 18, Iss, Pp-(2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

Abstract

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.

Details

Language :
English
ISSN :
24519936
Volume :
18
Database :
OpenAIRE
Journal :
American Journal of Ophthalmology Case Reports
Accession number :
edsair.doi.dedup.....84b2c230bd616234b73b9d1335861ad6