Consanguinity and Ocular Disorders in Pakistani Population: Refractive Errors, Strabismus, and Keratoconus

Résumé

Background: Previous Consanguineous marriages led to an increased risk of genetic disorders due to the amplification of homozygous alleles. Both genetic and environmental factors contribute to the development of refractive errors and strabismus, while genetic inheritance plays a role in the development of keratoconus. This research aimed to investigate the association between consanguinity and refractive errors, strabismus, and keratoconus. The study also assessed the severity of the problem and made recommendations for prevention. Methods: From September 2021 to June 2022, a descriptive cross-sectional study was conducted in a population with refractive errors, strabismus and/or keratoconus in Islamabad. Data were collected from different hospitals using a non-probability sample. Visual acuity testing and refractive testing were performed using standardized methods, while strabismus was assessed using the cover/uncover test, and keratoconus was suspected by signs and symptoms and confirmed with a keratometer. Results: Of the 900 patients included in the study, 555 were male and 345 were female. Refractive errors were the most common disorder, observed in 83.6% of patients. Consanguinity was identified in 53% of patients, mostly first cousins. Conclusion: The study found a significant association between consanguinity and strabismus and elucidated the multifactorial etiology related to family history, consanguinity, and heredity. Consanguinity and heredity have been identified as critical factors in the development of refractive errors, keratoconus, and strabismus. The results of the study form a basis for educating and advising the population on how to deal with these eye consequences.