Abstract
Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study
was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma.
Materials and methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso. A total of
89 samples of patients with primary open-angle glaucoma (POAG) were collected. The frequency of the Glu323Lys mutation of the myocilin,
trabecular meshwork inducible glucocorticoid response (TIGR/MYOC) gene by polymerase chain reaction (PCR)—restriction fragment length
polymorphism.
Results: In glaucoma patients, only homozygous nonmutated guanine-guanine (GG) and heterozygous mutated adenine-guanine (AG)
genotypes were found in 96.63 and 3.37% of cases, respectively. Around 69.66% of patients had a family history of glaucoma, 28.09% had a
history of hypertension, and 7.86% had a history of diabetes.
Conclusion: The frequency of the Glu323Lys mutation of the TIGR/MYOC gene was 3.37% in the glaucoma population in Ouagadougou. A
case-control study is necessary to know the contribution of the Glu323Lys mutation as a genetic risk factor for glaucoma in our study population.
Clinical significance: This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys
mutation.
Keywords: Burkina Faso, Glu323Lys mutation, Risk factors glaucoma.
Journal of Current Glaucoma Practice (2023): 10.5005/jp-journals-10078-1403

Burkina Faso Glu323Lys mutation