ArticleThe British journal of ophthalmology2003
The familial contribution to non-syndromic ocular coloboma in south India.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 27 citations in OpenAlex.
- Loss of Hippo signaling causes transdifferentiation of neural retina between the optic fissure edges causing coloboma.bioRxiv : the preprint server for biology · 2026Article
- Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Human genetics · 2024Article
- BMP3 is a novel locus involved in the causality of ocular coloboma.Human genetics · 2022Article
- Consanguinity and its association with visual impairment in southern India: the Pavagada Pediatric Eye Disease Study 2.Journal of community genetics · 2019Article
- Keeping an eye on SOXC proteins.Developmental dynamics : an official publication of the American Association of Anatomists · 2015Review
- Mutation of SALL2 causes recessive ocular coloboma in humans and mice.Human molecular genetics · 2014Article
- Consanguinity and Increased Risk of Congenital Ptosis: A Case-Control Study from Southern Iran.Journal of current ophthalmologyArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India.
methodsChildren 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.
results56 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%).
conclusions21.4% 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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