Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.

ABSTRACT:

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 detection.

Results

The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the si

SUBMITTER: Palayil I 

PROVIDER: S-EPMC5819101 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature