Open AccessNewly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia
Author(s) -
Woo Jin Kim,
Jong Ha Kim,
Nam Chun Cho
Publication year - 2017
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.202305
Subject(s) - aniridia , pax6 , hypoplasia , medicine , iris (biosensor) , ophthalmology , glaucoma , maldevelopment , foveal , genetics , gene , anatomy , biology , retinal , computer security , transcription factor , computer science , biometrics
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. 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.