Gene screening as the forewarning measure to predict glaucoma

Abstract

To investigate the effect of gene screening on forewarning and monitoring of familial open-angle glaucoma pedigree. Comprehensive ophthalmic examinations were performed in all available family members. The genomic DNA was extracted from peripheral blood. The myocilin gene was amplified and screened for mutations using direct sequencing. All family members were followed up. Among 12 family members, 5 individuals carry a C to T transition in exon 3 resulting in the substitution of proline to leucine (Pro370Leu), and the other 7 individuals did not carry this mutation. Ophthalmic examinations did not show any abnormality in the optic disc, the thickness of RNFL, and visual field parameters in mutation-carriers. During the follow-up, all carriers were diagnosed as open-angle glaucoma. The mean time of presentation of the defect of visual field was 21.6 months and 14.4 months after the changes in RNFL thickness. Genetic diagnosis was proven to be a method with high specificity and sensitivity; and can be used for presymptom diagnosis and forewarning in familial open-angle glaucoma pedigree.