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. 2003 Mar;87(3):336-40.
doi: 10.1136/bjo.87.3.336.

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

S J Hornby  1 , L Dandona, R B Jones, H Stewart, C E Gilbert
Affiliations

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

S J Hornby et al. Br J Ophthalmol. 2003 Mar.

Abstract

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.

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Figures

Figure 1
Figure 1
Family pedigrees 1–8.
Figure 1
Figure 1
Family pedigrees 9–12.
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