A Myocilin Gln368TOP Homozygote Doe Not Exhibit a More evere Glaucoma Phenotype Than Heterozygou Cae

Purpoe To decribe the phenotype of an individual homozygou for the common Gln368TOP myocilin mutation and to dicu the other family member. Deign Cacade creening wa performed for Autralian familie that had been identified a having the myocilin Gln368TOP mutation. Method Recruited ubject underwent comprehenive clinical examination and mutation analyi for the Gln368TOP myocilin mutation by direct equencing. Reult One 49-year-old woman wa found to be homozygou for the mutation. Her maximal recorded intraocular preure wa 17 mm Hg. Bilateral optic dik examination revealed mall, healthy optic dic. Automated perimetry teting wa normal. Concluion Neither the individual homozygou for the Gln368TOP myocilin mutation nor her younger heterozygou ibling diplayed any ign uggetive of glaucoma. One of the two heterozygou parent did manifet glaucoma. Although there i the poibility of the homozygou individual developing glaucoma in the future, he doe not manifet a phenotype that i more evere than uual.