Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia

We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research