A CASE OF AUTOSOMAL DOMINANT BILATERAL FAMILIAL ANIRIDIA
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2014, Vol 3, Issue 16
Abstract
Aniridia are rare developmental anomalies present in 1.8/100, 000 live births. Aniridia occurs due to abnormal neuroectodermal development secondary to mutations in paired box gene 6 (PAX6) on band p13 of chromosome 11 which regulates eye development. Aniridia may be congenital or traumatic. It may occur in isolation or be associated with a number of syndromes such as WAGR. Two third of cases are familial and one third is sporadic. We report a family of aniridia with different clinical spectrum of features
Authors and Affiliations
Srinivas Ganagi, Shivaraj Budihal
Keywords
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- EP ID EP117379
- DOI 10.14260/jemds/2014/2422
- Views 121
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