Abstract

Congenital Aniridia is a rare eye disorder characterized by the partial or complete absence of the iris. It can be caused by mutations in a variety of genes, most commonly the PAX6 gene. A new study has investigated the genetic pattern and genotype-phenotype association in patients with congenital Aniridia at a tertiary care eye hospital in Kerala, India.The study included 11 patients with congenital Aniridia, all of whom underwent detailed ocular evaluation and genetic testing. Whole exome sequencing was used to identify genetic variations, with an emphasis on PAX6-related genes.The researchers found that PAX6 gene mutations were present in all 11 patients. In two patients, other genes were also found to be involved. The study also identified novel genotype-phenotype correlations, suggesting that the severity of aniridia can vary depending on the specific genetic mutation.

Full Text