Article
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.
Indian journal of ophthalmology - 1 Feb 2018
Palayil Isham, Priya S G, Sivan N V Sarath, Madhivanan Nivean, Venkatachalam Panneer Selvam, Jagadeesan Madhavan
Abstract excerpt
PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation...
Topics
- Adult
- Aniridia
- Child
- DNA
- DNA Mutational Analysis
- Family
- Female
- Follow-Up Studies
- Frameshift Mutation
- Genotype
- Humans