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Kent L Anderson, Ravindranath Duggirala, Roy G Resendez, Matthew P Johnson; Investigating the genetic architecture of ocular health and disease in Mexican American families: The San Antonio Family Eye Study (SAFES) . Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2112. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
The burden of eye health and disease in individuals of Latin American descent is a growing concern. The disparity in ocular disease prevalence compared to other ethnic populations also warrants an augmented effort to study normal- and disease-state biology. This pilot study is to initiate, for the first time, an investigation of ocular health and disease in a population-based cohort of Mexican American families in San Antonio, Texas.
From our long running (20-25 years) San Antonio Family Heart Study we are recruiting 250 subjects from 3 to 5 large families. Subjects (>40 years) will be Latino with at least two out of four grandparents of Mexican or Central American descent. Along with a detailed medical history questionnaire and a series of quantitative metabolic clinical measures, a thorough ophthalmic examination protocol with imaging is being conducted. SOLAR is used to conduct preliminary heritability and pleiotropy analyses of all measured traits. An existing framework of genetic variants from whole-genome sequence data will be used to complement our preliminary genetic analyses.
We currently have 27 subjects (23 female, 4 male), from two families, recruited to the study. The average (median) age of subjects is 58.6 (62) years; 44.4% have been diagnosed with diabetes. The average (median) HbA1c and fasting serum glucose is 7.0 (6.2) % and 134.5 (99.5) mg/dL, respectively. The average (median) lipid panel test results (in mg/dL) are: total cholesterol 195.9 (193.5); HDL-C 46.7 (43.5); LDL-C 118.3 (108.0); and triglycerides 159.4 (151.0). One notable ophthalmic feature we have observed early in our study is a significantly higher incidence of glaucoma suspect (67%).
Based on the appearance of the optics disc and/or retinal nerve fiber layer a higher incidence of suspicion for glaucomatous damage has been observed in our subjects. Although ethnic differences in the nerve fiber layer and optic disc size have been reported, it has also been shown that a higher incidence of open angle glaucoma does exist in the Latino population when compared to non-Hispanic whites. Given the higher incidence of open angle glaucoma suspect in this fast growing segment of the United States population, the need for screening and early detection through community programs continues to be emphasized.
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