Septuagenarian's Phenotype Leads to Ascertainment of Familial MYOC Gene Mutation

Abstract

A functioning filtering procedure performed 50 years before the current study was all that was needed to prevent glaucomatous damage and control IOP in the proband. Once the bleb failed, increased IOP led to damage in a relatively brief period of time. Although not every JOAG patient has the MYOC mutation, there is a somewhat typical MYOC phenotype that may predict an increased chance of harboring a MYOC mutation. Use of such phenotype information in evaluating whether to screen older patients can lead to identification of families at risk for open-angle glaucoma.