Abstract
To determine the association of consanguinity with the occurrence of genetically transmitted eye diseases in rural and urban populations in Pavagada and Madhugiri taluks, Karnataka state, south India. This study was part of a population based cross-sectional prevalence survey, “The Pavagada pediatric eye disease study 2.” As a part of the demographic data, trained investigators collected information on consanguinity from the parents of children identified for the study. The children underwent visual acuity measurements and were examined by an ophthalmologist. Children with minor eye diseases were treated and those with major eye diseases were seen by a pediatric ophthalmologist. Eight thousand five hundred and fifty-three children were examined. The prevalence of ocular morbidity was 6.54% and blindness was 0.09%. The percentage of consanguineously married couples in the screened population was 34.33%. Among the blind children, 75% were blind with a disease with potential genetic etiology. Out of that, 66.67% were born out of consanguineous marriage (uncle-niece). Among children with diseases with a potential genetic etiology 54.29% of the children were born out of consanguineous union. Most of these children (71.43%) were born out of uncle-niece marriages. Further analysis showed that consanguineous parents were more likely to have children with disease with a potential genetic etiology as compared to nonconsanguineous parents (odds ratio: 2.551, p = 0.012). It is evident that consanguineous marriages, especially uncle-niece unions are common in the study area. Consanguinity is more likely to result in children with eye diseases with potential genetic etiology.
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Acknowledgements
We would like to sincerely thank Swami Japanandaji, Chairman and all the staff of Shree Sharada Devi Eye Hospital and Research Centre, Pavagada, Karnataka, India.
Funding Organization
This project was supported by the Indian Council of Medical Research (ICMR) vide Ref: 5/4/6/2/09 – NCD-11 dated 22.03.2011.Pavagada Pediatric Eye Disease Study/Beyond Blindness.
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All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This study was a population based cross-sectional study and was approved by the Institutional Review Board of the hospital and conducted within the tenets of the Declaration of Helsinki.
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Kemmanu, V., Giliyar, S.K., Rao, H.L. et al. Consanguinity and its association with visual impairment in southern India: the Pavagada Pediatric Eye Disease Study 2. J Community Genet 10, 345–350 (2019). https://doi.org/10.1007/s12687-018-0401-5
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DOI: https://doi.org/10.1007/s12687-018-0401-5