Investigating the genetic architecture of ocular health and disease in Mexican American families: The San Antonio Family Eye Study (SAFES).

摘要

Purpose : 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 an investigation of ocular health and disease in a population-based cohort of Mexican American families in San Antonio, Texas. This arm of SAFES focuses on anatomic oculoplastic measurements. Methods : We are recruiting 250 subjects from 3 to 5 large families. Subjects (40 years) are Latino with at least two grandparents of Mexican descent. Along with a detailed medical history questionnaire and a series of quantitative metabolic clinical measures, a thorough ophthalmic examination protocol with imaging is conducted. An existing framework of genetic variants from whole-genome sequence data is used to complement preliminary genetic analyses. For this oculoplastic arm, the following measurements were obtained (mm): intercanthal distance (ICD), interpupillary distance (IPD), palpebral fissure height (PFH), margin reflex distances (MRD), tarsal plate height (TPH), and Hertel exophthalmometry (HO). Measurements were obtained both clinically and with standardized external photography analyzed with ImageJ software. Results : 63 subjects have been recruited to date (45 F; 18 M) from three families. The average age of subjects is 60 (SD: 10.1) years. The average ICD and IPD was 33.8 (33.3 F; 35.2 M) and 62.9 (62.0 F; 65.0 M), respectively. Females had higher average PFH than males (17.1 F; 12.1 M), but this did not reach statistical significance. MRD1 for both sexes averaged 1.7 (SD 1.2). TPH averaged 9.2 with a slightly larger measurement in OD compared to OS in both sexes, but this did not reach statistical significance. Males had higher average HO than females (17.75 F; 19.3 M) but this did not reach statistical significance. Conclusions : The intercanthal and interpupillary distances varied little and may be commonplace in this population. However, other measures show greater variability and although differences between sexes were observed, these did not reach statistical significance in subjects recruited to date. The effect of aging must also be considered when further clinical phenotyping and genetic analyses are performed. This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.