September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Investigating the genetic architecture of ocular health and disease in Mexican American families: The San Antonio Family Eye Study (SAFES).
Author Affiliations & Notes
  • Kent L Anderson
    Ophthalmology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, United States
  • Andrew C Bowman
    Ophthalmology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, United States
  • Matthew P Johnson
    South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Harlingen, Texas, United States
  • Footnotes
    Commercial Relationships   Kent Anderson, None; Andrew Bowman, None; Matthew Johnson, None
  • Footnotes
    Support  Voelcker Fund 13-04409.002 San Antonio Family Eye Study
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 223. doi:
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      Kent L Anderson, Andrew C Bowman, 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. 2016;57(12):223.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

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.

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