Congenital glaucoma prevention program—Evaluation of patient knowledge and acceptance of genetic screening

Abstract

This cross-sectional study evaluated the knowledge and understanding of basic genetic concepts, as well as the acceptance of screening and preventive measures, among 100 adult patients and/or parents of children with primary congenital glaucoma (PCG) at King Khalid Eye Specialist Hospital. The study population included 36 males and 64 females. Following genetic counseling sessions for participants who had received genetic test results, an assessment was conducted using structured telephone interviews. Parents and adult patients generally demonstrated an understanding of autosomal recessive conditions: 93% recognized the increased genetic risk associated with consanguinity, and 87% were aware that an unaffected individual may be a carrier of the mutation. However, approximately one-third still had difficulty understanding or recalling recurrence risks. There was moderate-to-high motivation among participants to engage in preventive actions. While 61% supported prenatal genetic screening (PGS), 78% expressed willingness to use preimplantation genetic diagnosis (PGD) to avoid having an affected child; reinforcing the need to fast-track a congenital glaucoma prevention program. Such an initiative would facilitate the identification of carriers prior to marriage, enabling informed decision-making regarding pregnancy management.