Dr.SUDA SPANDANA

Dr.Padala Venkateswara Prasad

Abstract

Purpose of this study is for early recognition of these cases will improve parents understanding as well as genetic counselling. We recommend life long follow up for coloboma cases to catch any retinochoroidal changes or development of cataract or glaucoma. Ocular coloboma is caused by defective closure of the embryonal fissure. The occurence of coloboma can be sporadic, hereditary. The genetic basis for occurance of coloboma appears to be complex. It can occur in isolation or occur with systemic abnormalities. Colobomas associated with chromosomal aberrations are more likely to have systemic abnormalities. Isolated coloboma can be sporadic or familial. Mutations in genes SHH gene, PAX2, PAX6, VAX etc.. develop coloboma