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. 336-340.
ISSN 0007-1161
DOI: https://doi.org/10.1136/bjo.87.3.336
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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.
