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Phenotypic variance in Calpain-5 retinal degeneration
Peter H Tang1,2, Teja Chemudupati1, Katherine J Wert1
1Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA.
American Journal of Ophthalmology Case Reports
|April 11, 2020
Summary
The CAPN5 R243L mutation can cause mild vitreoretinopathy, differing from severe forms. This suggests genetic testing for CAPN5 may benefit patients with pigmentary retinal changes.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Calpain-5 (CAPN5) gene variants are linked to Neovascular Inflammatory Vitreoretinopathy (ADNIV).
- The p.R243L mutation in CAPN5 typically presents with severe uveitis, neovascularization, and fibrosis, often with early onset.
Observation:
- Two patients with the CAPN5 p.R243L variant exhibited a milder phenotype.
- These individuals presented with peripheral retinal pigmentary degeneration and electroretinogram (ERG) b-wave loss at later ages (45 and 69).
- Notably, they lacked signs of uveitis or retinal neovascularization.
Findings:
- The study highlights significant variability in phenotypic penetrance for the CAPN5 p.R243L variant.
- Mild presentations of ADNIV are possible, characterized by retinal pigmentary changes and ERG abnormalities without inflammatory or neovascular complications.
Implications:
- Phenotypic variability in CAPN5-related vitreoretinopathy necessitates careful clinical evaluation.
- Genetic testing for CAPN5 should be considered in patients diagnosed with pigmentary retinal dystrophy, even in milder cases.
