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

Purpose: We report a rare case of CRB1gene mutation in two siblings (sisters) affected with the exact same genetic mutation on both CRB1genes resulting in varying phenotypes. Case Report: CRB1gene mutation in this case has resulted in causing varying degrees of Leber congenital amaurosis...

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Bibliographic Details
Main Authors: Shaheryar Ahmed Khan, Achim Richard Nestel
Format: Article
Language:English
Published: Knowledge E 2019-10-01
Series:Journal of Ophthalmic & Vision Research
Subjects:
LCA
Online Access:https://doi.org/10.18502/jovr.v14i4.5467