Young Brian P

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).

This study identifies a novel mutation, p.Tyr438Cys, as the first known glaucoma-causing EFEMP1 mutation in a JOAG pedigree of European ancestry.

Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.

Myocilin mutations are the most common known cause of JOAG in populations of European ancestry.