Investigating Risk Factors for Primary Open-angle Glaucoma in People of African Descent

Alberta Thiadens, MD, PhD Erasmus Medical Center

Co-Principal Investigators

Caroline C.W. Klaver, MD, PhD


Glaucoma is a leading cause of blindness in the world, and is particularly frequent among persons of African descent. Genetic studies are currently investigating the causes for this disease in Africans, but the genetic diversity in the African population is a major challenge in gene finding this calls for very large study population. With this proposal, we aim to find the genetic causes for glaucoma in African populations. In addition we will focus on ancestry related anatomical variation of the eye that might explain the higher vulnerability of the optic nerve. This will help us understand why glaucoma is so frequent and severe in persons from African ancestry , provide us with knowledge on the causes of glaucoma, and help create means to cure and prevent this disease.

Project Details

Glaucoma has the highest prevalence in patients from (West) African descent and leads to irreversible blindness. So far the background of glaucoma is still largely unknown but we know that genetic-, and environmental factors are involved. It is also unknown why the prevalence is so high in this population and if glaucoma in Africans is affected by the same genetic factors as glaucoma in other ethnicities. It is also unknown if environmental factors (i.e. dietary intake and medication use) play a role in African glaucoma. The goal of my project is to unravel the genetic background, clinical characteristics, nutritional and environmental influences that may effect the disease presentation of primary open angle glaucoma in patients of African descent. To accomplish my goal, I am currently establishing a well-defined study group of glaucoma patients in Ghana. This will enable me to investigate the association of known glaucoma genes and to calculate their contribution to the risk of disease. Additionally, I am aiming to identify new genetic factors for glaucoma. I will investigate the clinical variation of the optic disc and the retinal nerve fiber layer and calculate the contribution of environmental risk factors like dietary intake or medication use in this population. Innovative aspects of this study are the translation of knowledge gained by research in one ethnicity to another ethnicity, which has larger disease risk but has been more difficult to investigate. The knowledge gained in Africa, will in return, benefit the clinical management of patients with an African ethnicity like the African-American patients or African-Caribbean patients. This will increase the insights into the disease mechanisms and genetic background underlying glaucoma all over the world.