June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Seeing in Color: Inclusion and Characterization of African Americans in Hereditary Eye Disease Research
Author Affiliations & Notes
  • Agnes C Ezekwesili
    University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States
  • Raisa Ionin
    Library, National Institutes of Health, Bethesda, Maryland, United States
  • Laryssa Huryn
    Ophthalmic Clinical Genetics, National Eye Institute, Bethesda, Maryland, United States
  • Catherine A Cukras
    Clinical Investigation of Retinal Disease, National Eye Institute, Bethesda, Maryland, United States
  • Delphine Blain
    Ophthalmic Clinical Genetics, National Eye Institute, Bethesda, Maryland, United States
  • Aime Agather
    Ophthalmic Clinical Genetics, National Eye Institute, Bethesda, Maryland, United States
  • Robert B Hufnagel
    Medical Genetics and Ophthalmic Genomics, National Eye Institute, Bethesda, Maryland, United States
  • Brian Patrick Brooks
    Ophthalmic Genetics and Visual Function, National Eye Institute, Bethesda, Maryland, United States
  • Wadih M Zein
    Ophthalmic Genetics and Visual Function, National Eye Institute, Bethesda, Maryland, United States
  • Footnotes
    Commercial Relationships   Agnes Ezekwesili None; Raisa Ionin None; Laryssa Huryn None; Catherine Cukras None; Delphine Blain None; Aime Agather None; Robert Hufnagel None; Brian Brooks None; Wadih Zein None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 501 – A0078. doi:
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      Agnes C Ezekwesili, Raisa Ionin, Laryssa Huryn, Catherine A Cukras, Delphine Blain, Aime Agather, Robert B Hufnagel, Brian Patrick Brooks, Wadih M Zein; Seeing in Color: Inclusion and Characterization of African Americans in Hereditary Eye Disease Research. Invest. Ophthalmol. Vis. Sci. 2022;63(7):501 – A0078.

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

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Abstract

Purpose : Hereditary eye diseases (HED) affect millions globally. While the field of study of these disorders, Ophthalmic Genetics, has seen major advances, evidence of inclusion and characterization of HEDs in diverse populations is lacking in current literature. This raises questions on the accuracy and applicability of these findings to diverse populations. A literature review was conducted to assess gaps in the representation of African Americans in genomic research surrounding eight HEDs: oculocutaneous albinism, retinoblastoma, congenital aniridia, congenital glaucoma, congenital cataract, Stargardt disease, retinitis pigmentosa, and optic atrophy.

Methods : A two-pronged approach was utilized to gather review sources. 1) An advanced PubMed® search cross-referencing our research population with a predetermined set of search terms for each HED. 2) Exploration of additional databases including Embase®, Web of ScienceTM, and Scopus® by a medical librarian. Sources were then filtered based on predetermined inclusion criteria (to highlight knowledge in the molecular era) and reviewed for significance of contribution to literature.

Results : Out of thousands of studies on each of these diseases, papers clearly reporting disease characterization in African Americans ranged from 14 addressing oculocutaneous albinism to none in aniridia. Analysis of studies that were inclusive of African American patients demonstrated the known utility of diverse genomics research by: reporting novel disease associated variants, challenging classifications of benign and pathogenic variants, proposing previously unreported genotype-phenotype correlations, and expanding documented manifestations of these diseases in more diverse populations.

Conclusions : Genomic research is more likely to be applicable to patients when conducted in populations that share their ancestral background. HED characterization in diverse participants, specifically African Americans, is identified as a knowledge gap area. Addressing this gap will lead to a better understanding of HEDs in broader populations. Greater inclusion of African Americans in Ophthalmic Genetics research is a scientific imperative and is a needed step in the pursuit of the best possible patient care.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

 

Number of African American population specific studies by disease

Number of African American population specific studies by disease

 

Challenges and recommendations for increasing diversity in ophthalmic research, derived from Bentley, 2017

Challenges and recommendations for increasing diversity in ophthalmic research, derived from Bentley, 2017

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