Phenotypic variance in Calpain-5 retinal degeneration

Peter H. Tang, Teja Chemudupati, Katherine J. Wert, James C. Folk, Mary Ann Mahajan, Stephen H. Tsang, Alexander G. Bassuk, Vinit B. Mahajan

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Article number100627
JournalAmerican Journal of Ophthalmology Case Reports
Volume18
DOIs
StatePublished - Jun 2020
Externally publishedYes

Keywords

  • ADNIV
  • CAPN5
  • Calpain
  • Retinal degeneration
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Ophthalmology

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  • Cite this

    Tang, P. H., Chemudupati, T., Wert, K. J., Folk, J. C., Mahajan, M. A., Tsang, S. H., Bassuk, A. G., & Mahajan, V. B. (2020). Phenotypic variance in Calpain-5 retinal degeneration. American Journal of Ophthalmology Case Reports, 18, [100627]. https://doi.org/10.1016/j.ajoc.2020.100627