Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India

This study aimed to describe clinical findings, pedigrees, and possible env ironmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India. Twenty-four children (14 ma le, 10 female; mean age 10.3 years, age range 1.3 to 18 years,) were recrui ted from schools for the blind, hospitals, and community-based rehabilitati on programmes in Andhra Pradesh, India, over 1 year. Family members were ex amined, and mothers interviewed. Fifteen children had anophthalmos and nine had remnant microphthalmos in one or both eyes. Twelve children had associ ated systemic findings, of which six were major and six were minor abnormal ities. Information on consanguinity was available in 19 children, 12 of who m had consanguineous parents, Five children had a positive family history, Two mothers had a history of night blindness, and one had a history of pest icide exposure during pregnancy. High rates of consanguinity suggest a gene tic recessive aetiology.