A CASE OF AUTOSOMAL DOMINANT BILATERAL FAMILIAL ANIRIDIA

CORRESPONDING AUTHOR:
Dr. Srinivas M. Ganagi,
303, Staff Quarters,
Srinivas Institute of Medical Science and
 Research Centre, Mukka, Surathkal,
Mangalore – 574146.
E-mail: srinivasganiga123@gmail.com

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.

KEYWORDS: Aniridia, PAX6, sporadic, nystagmus, cataract, glaucoma, keratopathy, fovea hypoplasia and optic disc hypoplasia.