Journal of Ophthalmic and Vision Research
ISSN: 2008-322X
The latest research in clinical ophthalmology and the science of vision.
CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
Published date: Oct 24 2019
Journal Title: Journal of Ophthalmic and Vision Research
Issue title: October–December 2019, Volume 14, Issue 4
Pages: 518 – 524
Authors:
Abstract:
Purpose: We report a rare case of CRB1 gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1 genes resulting in varying phenotypes.
Case Report: CRB1 gene mutation in this case has resulted in causing varying degrees of Leber congenital amaurosis (LCA) in both sisters with a more severe phenotype in the older sibling causing LCA-8 with retinitis pigmentosa spectrum in both eyes and a milder phenotype causing LCA-8 with less severe rod cone dystrophy in the younger sister.
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.
Keywords: CRB1, LCA, Retinitis Pigmentosa, Rod cone Dystrophy
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