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

¹ Department of Epidemiology and International Eye Health, Institute of Ophthalmology, London, UK
² International Centre for the Advancement of Rural Eye Care, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad 500034, India
³ Department of Paediatrics, Moorfields Eye Hospital, City Road, London, UK
⁴ Department of Medical Genetics, Churchill Hospital, Oxford

Correspondence to:
Correspondence to:
Miss Stella Hornby, Department of Epidemiology and International Eye Health, Institute of Ophthalmology, 11–43 Bath Street, London EC1V 9EL, UK;
stella.hornby{at}virgin.net

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.

Keywords: coloboma; aetiology; genetics; India

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