June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Blinding eye disease and associated genetic and epidemiological factors in a Mayan population of Guatemala
Author Affiliations & Notes
  • Patrice Hicks
    Population Health Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Elizabeth Au
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • Benjamin Haaland
    Population Health Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Leah Owen
    Ophthalmology and Visual Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Michael Feehan
    Kantar,LLC, New York, New York, United States
  • Sandra Sieminski
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • Julia P Shulman
    Ophthalmology, New York Medical College, Valhalla, New York, United States
  • William Self
    Ophthalmology and Visual Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Adam Siedlecki
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • Andrew Reynolds
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • John Lillvis
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • Michael H Farkas
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
  • Maureen Murtaugh
    Population Health Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Alan S Crandall
    Ophthalmology and Visual Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Margaret M DeAngelis
    Department of Ophthalmology, University at Buffalo, Buffalo, New York, United States
    Population Health Sciences, The University of Utah School of Medicine, Salt Lake City, Utah, United States
  • Footnotes
    Commercial Relationships   Patrice Hicks, None; Elizabeth Au, None; Benjamin Haaland, None; Leah Owen, None; Michael Feehan, None; Sandra Sieminski, None; Julia Shulman, None; William Self, None; Adam Siedlecki, None; Andrew Reynolds, None; John Lillvis, None; Michael Farkas, None; Maureen Murtaugh, None; Alan Crandall, None; Margaret DeAngelis, None
  • Footnotes
    Support  Skaggs Foundation; National Institutes of Health Core Grant EY014800; Unrestricted Grant from Research to Prevent Blindness, Inc., New York, NY, to the Department of Ophthalmology & Visual Sciences, University of Utah; Eunice Kennedy Shriver National Institute of Child Health & Human Development and the Office of Research on Women’s Eye Health of the National Institutes of Health under Award K12HD08582
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3489. doi:
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      Patrice Hicks, Elizabeth Au, Benjamin Haaland, Leah Owen, Michael Feehan, Sandra Sieminski, Julia P Shulman, William Self, Adam Siedlecki, Andrew Reynolds, John Lillvis, Michael H Farkas, Maureen Murtaugh, Alan S Crandall, Margaret M DeAngelis; Blinding eye disease and associated genetic and epidemiological factors in a Mayan population of Guatemala. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3489.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : The Mayan population in Guatemala is understudied within vision research. This observational cohort of individuals seeking eye care may help identify unique clinical, demographic, environmental, and genetic factors for blinding eye disease. This study will serve to (a) identify the ocular health needs within this population and (b) any possible modifiable risk factors.

Methods : We conducted a cross-sectional study with 126 participants. Each received an eye exam, provided a blood sample, and were administered a standardized epidemiological questionnaire at the Lion's Eye Hospital in Salama, Guatemala. Interpreters were available for translation to the patients' native dialect. We also performed a genome-wide association study using Illumina's HumanOmni2.5-8 chip to examine SNPs. We used quality control measures and performed a logistic regression analysis to determine which genetic components were associated with eye disease.

Results : The population was 46% male, and the average age was 65.2. We found that the most prevalent eye conditions were cataracts (54.8%), followed by pseudoexfoliation syndrome (PXF) (24.6%). The population with both conditions was 22.2%. We conducted multivariate analyses to determine which epidemiological factors were significantly associated with the population's eye conditions at p<.05. In our epidemiological analysis, including 121 participants for completeness, we found that eye disease was significantly more likely with advanced age. Cataracts were significantly more common among those living in the 10 districts with the least resources. Furthermore, having cataracts was associated with a greater likelihood of PXF after adjusting for age and sex. In our genetic analysis, the SNP most significantly associated with PXF is within the gene KSR2 (p<1 x 10-5). Several SNP's were associated with Cataracts at Genome-Wide significance adjusting for covariates (p<5 x 10-8). Almost three-quarters of these SNPs lie within 13 genes, with the majority of genes having only one significant SNP.

Conclusions : To the best of our knowledge utilizing PhenGenI, these SNP's and genes have not been previously associated with cataracts, glaucoma, or PXF. This study can aid in understanding the prevalence of eye conditions in this population but may also inform public health planning and delivering of quality, accessible and relevant health and preventative care within Guatemala.

This is a 2021 ARVO Annual Meeting abstract.

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