The familial contribution to non-syndromic ocular coloboma in south India

Hornby, SJ; Dandona, L; Jones, RB; Stewart, H; Gilbert, CE; (2003) The familial contribution to non-syndromic ocular coloboma in south India. The British journal of ophthalmology, 87 (3). pp. 336-40. ISSN 0007-1161 DOI:

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AIMS: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%). CONCLUSIONS: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.

Item Type: Article
Keywords: Adolescent, Child, Child, Preschool, Coloboma/complications/epidemiology/*genetics, Consanguinity, *Family Health, Female, Human, India/epidemiology, Male, Pedigree, Risk Factors, Siblings, Support, Non-U.S. Gov't, Adolescent, Child, Child, Preschool, Coloboma, complications, epidemiology, genetics, Consanguinity, Family Health, Female, Human, India, epidemiology, Male, Pedigree, Risk Factors, Siblings, Support, Non-U.S. Gov't
Faculty and Department: Faculty of Infectious and Tropical Diseases > Dept of Clinical Research
Research Centre: The International Centre for Evidence in Disability
International Centre for Eye Health
Centre for Global Non-Communicable Diseases (NCDs)
PubMed ID: 12598450
Web of Science ID: 181368500022


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