Phenotypic variance in Calpain-5 retinal degeneration.
Ontology highlight
ABSTRACT:
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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