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Prevalence of ocular anomalies is increased in women with polycystic ovary syndrome—exploration of association with PAX6 genotype

ABSTRACT Background Polycystic Ovarian Syndrome (PCOS), the most common reproductive endocrine disorder affecting premenopausal women, is frequently associated with central obesity and pancreatic β-cell dysfunction. Aniridia, a rare congenital eye disorder with haploinsufficiency of the PAX6 gene, was observed to co-occur with PCOS in a proband. This study investigates eye health and PAX6 genotypes of women with PCOS and controls. Materials and methods This is a cross-sectional study of 203 premenopausal women (100 healthy controls, 103 with PCOS) conducted at an academic medical center in Vancouver, Canada. Ophthalmological exams and detailed medical histories were obtained from each participant. DNA extracted from saliva was Sanger-sequenced for the exons, intron-exon boundaries, and untranslated regions of PAX6. Results Women with PCOS had eye abnormalities, including abnormalities of the anterior segment, optic nerve, and retina, that were not observed in controls (p = 0.0002). Myopia prevalence was similar in both groups. Dry eye syndrome, by history, was markedly more prevalent in women with PCOS (22.3%) than controls (5%), p = 0.004. PAX6 genotype did not significantly differ between the two groups, nor was it associated with the greater prevalence of eye anomalies observed in women with PCOS. Conclusion This is the first study to systematically perform an ophthalmological examination in women with PCOS, who were found to have a higher prevalence of potentially serious eye health problems compared with controls. These data suggest that ophthalmological-metabolic-genetic connections in women with PCOS require further investigation. Confirmation of these data and increased attention to eye health in women with PCOS appears warranted.