Identification of genetic mutations of open-angle glaucoma in a family with a history of glaucoma in Togo

Abstract

Purpose : To describe the genetic mutations that predispose to glaucoma in a family with a history of open angle glaucoma

Methods : This is a prospective cross-sectional descriptive study of MYOC, CYP1B1 and FOXC1 gene mutations that predispose to glaucoma in a Togolese family with a history of glaucoma. Were included in this study, members from 3 generations of the family. Cotton Swabs were use to collect cheek samples from the present members of the family. The genetic study investigated the existence of mutations of the CYP1B1, MYOC and FOXC1 genes.

Results : A total of 19 family members underwent an ophthalmological examination, 3 of them were glaucomatous (So, Da T and Ro T) and one 13-year-old child (PJ T) with suspicious excavation. After molecular biology, the 3 glaucomatous patients presented mutations of the 3 genes and the subject at risk presented mutations of FOXC1 and CYP1B1 genes. These 3 subjects are of the same siblings of 4 people with direct ascendants Mr Jo T and Mrs So.
Mutations of the CYP1B1 gene were observed in six major positions in 17 subjects (89.47%). The mutation of FOXC1 gene in position rs34470720 (C / A) was observed in 07 out of 19 subjects (36.84%). The MYOC gene mutation was observed in 4 subjects (21.05%)

Conclusions : This preliminary family survey identified the subjects at risk and started early follow-up. The study confirmed glaucoma in those with mutations of the FOXC1, CYP1B1 and MYOC genes. This family survey encourages the implementation of a case-control study in a more diverse sample to determine genetic mutations in glaucomatous patients in Africa.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.