High prevalence and familial aggregation of keratoconus in an Iranian rural population: a population-based study.

PURPOSE: The objective of this study was to determine the prevalence of keratoconus and the potential effect of genetic and environmental factors on its prevalence in households living in rural areas of Iran in a large population-based study.

METHODS: The present cross-sectional study was performed in two Iranian rural populations. Two rural areas were randomly selected in the southwest and north of Iran. All individuals over one year of age were invited to participate in the study. The study population underwent a thorough eye examination, including visual acuity measurement, refraction, slit lamp biomicroscopy, and Scheimpflug imaging. The diagnosis of keratoconus was made based on Pentacam-specific criteria, tomographic maps, and clinical findings. After detecting keratoconus cases, its prevalence in the study population was reported as a percentage with a 95% confidence interval (CI). For familial aggregation analysis, the odds ratios of keratoconus and its more severe types were calculated in different family relationships (siblings, parents-offspring, spouses) using second order generalised estimating equation.

RESULTS: Of the 3851 eligible individuals, 3314 subjects participated in the study. After applying the exclusion criteria, data from 2667 subjects was used in the analysis. The prevalence of keratoconus in the present population was 4% (95% CI: 3-4). The odds of keratoconus were significantly higher in males (OR = 2.30, p = 0.032). To investigate the familial aggregation of keratoconus, we only evaluated families from which at least two members participated in the study. So, 403 families (1452 participants) were evaluated. Our results showed a higher odds ratio for the sibling pairs compare to parent-offspring pairs and as reported, the odds ratio of the spouses was less than 1.0.

CONCLUSION: Our findings showed a relatively high prevalence and familial aggregation of keratoconus in rural areas of Iran, independent of age, sex, and place of residence. This aggregation may be due to heredity or the effect of undetermined shared environmental factors.