CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings.

Conclusion: In summary, the mechanisms of varying phenotypes resulting from CRB1 genetic mutation are still not well understood. We concluded that the presence of different phenotypes associated with identical genotypic mutation of a single gene in siblings or in a family is important especially when dealing with retinal dystrophies. PMID: 31875109 [PubMed]
Source: Journal of Ophthalmic and Vision Research - Category: Opthalmology Tags: J Ophthalmic Vis Res Source Type: research