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

Hornby, SJ; Dandona, L; Foster, A; Jones, RB; Gilbert, CE; (2001) Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India. Developmental medicine and child neurology, 43 (6). pp. 392-8. ISSN 0012-1622

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This study aimed to describe clinical findings, pedigrees, and possible environmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India. Twenty-four children (14 male, 10 female; mean age 10.3 years, age range 1.3 to 18 years,) were recruited from schools for the blind, hospitals, and community-based rehabilitation programmes in Andhra Pradesh, India, over 1 year. Family members were examined, and mothers interviewed. Fifteen children had anophthalmos and nine had remnant microphthalmos in one or both eyes. Twelve children had associated systemic findings, of which six were major and six were minor abnormalities. Information on consanguinity was available in 19 children, 12 of whom had consanguineous parents. Five children had a positive family history. Two mothers had a history of night blindness, and one had a history of pesticide exposure during pregnancy. High rates of consanguinity suggest a genetic recessive aetiology.

Item Type: Article
Keywords: Congenital eye malformations, dermal hypoplasia syndrome, childhood blindness, consecutive births, microphthalmia, coloboma, classification, epidemiology, anomalies, benomyl, Adolescent, Anophthalmos, genetics, pathology, physiopathology, rehabilitation, Child, Child, Preschool, Consanguinity, Female, Genes, Recessive, Human, India, Infant, Male, Pedigree, Phenotype, Pregnancy, Questionnaires, Risk Factors, Support, Non-U.S. Gov't, Visual Acuity
Faculty and Department: Faculty of Infectious and Tropical Diseases > Dept of Clinical Research
Research Centre: International Centre for Eye Health
Centre for Global Non-Communicable Diseases (NCDs)
PubMed ID: 11409828
Web of Science ID: 169197600006


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