| Title | Phenotypic variance in Calpain-5 retinal degeneration. |
| Publication Type | Journal Article |
| Year of Publication | 2020 |
| Authors | Tang, Peter H., Chemudupati Teja, Wert Katherine J., Folk James C., Mahajan Maryann, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. |
| Journal | Am J Ophthalmol Case Rep |
| Volume | 18 |
| Pagination | 100627 |
| Date Published | 2020 Jun |
| ISSN | 2451-9936 |
| Abstract | Purpose: To characterize the phenotype of patients with mild calpain-5 Neovascular Inflammatory Vitreoretinopathy (ADNIV). Observations: The p.R243L mutation is typically associated with onset in the twenties and severe, progressive uveitis, retinal neovascularization, and intraocular fibrosis. Two subjects with this 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 gene testing. |
| DOI | 10.1016/j.ajoc.2020.100627 |
| Alternate Journal | Am J Ophthalmol Case Rep |
| PubMed ID | 32274441 |
| PubMed Central ID | PMC7132063 |
