H3Africa Collaborative Research Center

Eyes of Africa: The Genetics of Blindness 

The Goal: To understand the genetics of glaucoma in Africans and to use this knowledge to develop and inform Africans of novel treatment strategies.

Project Leads

Dr. Adeyinka Ashaye

University of Ibadan


Dr. Chimdi Chuka-Okosa

University of Nigeria


Dr. Naa Naamuah M. Tagoe

University of Ghana Medical School


Dr. Joseph Matiya Msosa

Lions Sight-First Eye Hospital


Dr. Chinedu Anthony Okeke

Nigerian Navy Reference Hospital


Dr. Stephen Cook

The Eye Center


Dr. Michael Hauser

Duke University


The Problem

While the effects of glaucoma can be felt globally, glaucoma disproportionately affects people of African ancestry compared to those with European or Asian ancestry.  Primary open angle glaucoma (POAG) is the most common single cause of permanent blindness in Africa. Progressive vision loss associated with POAG can go unnoticed by the patient until it reaches advanced stages, and treatment strategies are not robust or widely available. Furthermore, POAG is more clinically aggressive and occurs at an earlier age in African populations compared to other populations. Finally, glaucoma and blindness are highly stigmatized within local communities, placing a social burden on those affected and their families.

Project Strategy

  1. Collect DNA samples from 8,000 healthy and affected individuals (and their families) from six recruitment sites across the continent.
  2. Analyze and compare these samples to determine how one’s genes affect their risk of being affected by glaucoma to inform novel treatment strategies.
  3. Engage communities to educate Africans on how glaucoma affects one’s vision and when to visit an eye doctor, encouraging affected individuals to begin treatment sooner to mitigate the impact of the disease.

Outcomes to Date

After preliminary analysis of 4,000 DNA samples, the group identified a new genetic risk factor for glaucoma that is found only in individuals of African ancestry. This risk factor is also involved in Alzheimer’s disease, raising the possibility of new treatments that could help patients with both diseases. This finding further reinforces the need for genomics research in Africa.

Project Sites

A: Nigeria
University of Ibadan, University of Nigeria, Nigerian Navy Reference Hospital

B: Ghana
Lions International Eye Centre, Korle-Bu Teaching Hospital

C: South Africa
The Eye Centre

D: Malawi
Lions Sight-First Eye Hospital

Non-African Collaborators:
USA: Duke University

Funding

This work is supported by the U.S. National Institutes of Health (NIH), Office of the Director (OD), the National Eye Institute (NEI), and the National Human Genome Research Institute (NHGRI) grant number U54HG009826.
May 21, 2021

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H3ABioNet

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