Phenotypic variance in Calpain-5 retinal degeneration.
Ontology highlight
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.
SUBMITTER: Tang PH
PROVIDER: S-EPMC7132063 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Publications
Phenotypic variance in Calpain-5 retinal degeneration.
Tang Peter H PH Chemudupati Teja T Wert Katherine J KJ Folk James C JC Mahajan MaryAnn M Tsang Stephen H SH Bassuk Alexander G AG Mahajan Vinit B VB
American journal of ophthalmology case reports 20200224
<h4>Purpose</h4>To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV).<h4>Observations</h4>The <i>CAPN5</i> p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this <i>CAPN5</i> variant only showed mild peripheral retinal pigmentary degeneration and loss of the ERG b-wave at age 45 and 69, respectively, without signs o ...[more]
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