Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.

BACKGROUND: Keratoconus (KC) is characterized by pathological thinning and bulging of the cornea that may lead to visual impairment. The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort. METHODS: A total of 176 patients (age 16-70 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (n = 418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis. RESULTS: Statistically significant associations (p = 0.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the FOXO1 and BANP-ZNF469 genes and sporadic KC in other populations. CONCLUSION: Genetic variations in the FOXO1 and BANP-ZNF469 genes may be involved in the pathogenesis of sporadic KC.

The prevalence of glaucoma in a 70-year-old Swedish population in the city area of Gothenburg.

PURPOSE: To determine the prevalence of and risk factors for open-angle glaucoma in a population of 70-year-olds in Gothenburg, Sweden and to compare the visual function between the glaucoma population and the non-glaucoma population. METHODS: Of the entire cohort (n = 1203), 1182 participants responded a questionnaire on self-reported glaucoma and were tested for blood pressure (BP) and diabetes. In all, 560 participants underwent ophthalmic examination including best-corrected visual acuity (BCVA), intraocular pressure (IOP), central corneal thickness (CCT), contrast sensitivity (CS), perimetry and photos of the retina and lens. RESULTS: Glaucoma prevalence was 4.8% (95% confidence interval, 3.0%-6.6%), of which 56% was previously undiagnosed. The proportion of participants with diastolic BP >90 mmHg was higher in the non-glaucomatous group (8.3%) than the glaucoma group (0%), p < 0.001. A family history of glaucoma was present in a larger proportion of the glaucoma group (39%) than of the non-glaucomatous group (1.1%), p = 0.001. Mean IOP in individuals without glaucoma was 16 mmHg, versus 21 mmHg in participants with glaucoma detected at the examination. IOP was ≤21 mmHg in 67% among participants with previously unknown glaucoma. BCVA was lower in eyes with previously unknown glaucoma than in eyes without glaucoma (p = 0.017) but BCVA in the best eye did not differ. CCT and CS were similar in all cases. CONCLUSIONS: The prevalence of glaucoma was comparable to that reported previously. A family history of glaucoma and higher IOP were risk factors associated with glaucoma. BCVA in the best eye did not differ significantly between subjects with and without glaucoma.

Vision-related quality of life among 70-year-olds diagnosed with glaucoma.

PURPOSE: To evaluate the effect of glaucoma on vision-related quality of life (VRQoL), lifestyle, physical factors and socioeconomic status in a 70-year-old population in Gothenburg, Sweden. METHODS: Responses to questionnaires (N = 1182) between groups with and without self-reported glaucoma were analysed. Questionnaires included National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25), Short-Form Health Survey (SF-36), physical activity, socioeconomics, alcohol and tobacco consumption. Balance test and body mass index were also included. About half of the participants were randomized to ophthalmic examination (N = 560), variables were analysed separately according to known and confirmed glaucoma, ocular hypertension and/or cases of previously unknown glaucoma. RESULTS: Both conventional and Rasch analysis of the NEI VFQ-25 showed that VRQoL was lower for individuals self-reporting glaucoma (p = 0.003/p = 0.024). Regarding general QoL, the participants did not differ apart from people self-reporting glaucoma reported worse general health (p = 0.01). Using logistic regression with lower VRQoL as the dependent variable glaucoma was not a significant predictor of poor VRQoL, odds ratio (OR) 1.83 (95% confidence interval (CI) 0.76-4.39, p = 0.18). Low household income was associated with lower VRQoL (OR 1.63, 95% CI 1.14-2.33, p = 0.01). Socioeconomics, physical activity and lifestyle factors were comparable between the groups (N = 915). Among participants who underwent ophthalmic examination no significant differences were found between glaucoma cases and non-glaucoma cases in relation to VRQoL (N = 560). CONCLUSIONS: Patients with self-reported glaucoma assessed a lower VRQoL but not lower general quality of life. Poorer household income was associated with worse VRQoL. General health was reported low in the glaucoma population but lifestyle or physical factors did not diverge.