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Abstract #72653 Published in IGR 18-4
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia
Kim WJ; Kim JH; Cho NCIndian Journal of Ophthalmology 2017; 65: 55-56
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.
Department of Ophthalmology, Chonbuk National University Medical School and Hospital, Chonbuk National University, Jeonju, Jeonbuk, South Korea.
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
