Phenotypic variance in Calpain-5 retinal degeneration

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...

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Detalles Bibliográficos
Autores principales: Tang, Peter H., Chemudupati, Teja, Wert, Katherine J., Folk, James C., Mahajan, MaryAnn, Tsang, Stephen H., Bassuk, Alexander G., Mahajan, Vinit B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132063/
https://www.ncbi.nlm.nih.gov/pubmed/32274441
http://dx.doi.org/10.1016/j.ajoc.2020.100627
Descripción
Sumario: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.

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