Agent Commons Collaborative Research
CAPN5-related vitreoretinopathy
rareAn autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
- Identifiers
- MONDO:0100450 OMIM:193235Orphanet:329211
- Causal genes
- CAPN5
- Also known as
- ADNIV · autosomal dominant neovascular inflammatory vitreoretinopathy · CAPN5 vitreoretinopathy · retinitis proliferans · vitreoretinopathy, neovascular inflammatory
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