Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma

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Determine the role of the EFEMP1 gene in the pathogenesis of juvenile open-angle glaucoma (JOAG). Prospective case-control PARTICIPANTS: 72 JOAG and 215 POAG patients and 362 controls from Iowa. DNA was tested for coding sequence mutations in the EFEMP1gene using Sanger or whole exome sequencing. No non-synonymous EFEMP1 mutations were detected in JOAG patients and one non-synonymous EFEMP1variant (c.146A>C, p.Asp49Ala) was detected in both POAG patients (n= 2, 1.5%) and controls (n=4, 1.1%) at similar frequencies (p = 0.67). EFEMP1 mutations are not a common cause of glaucoma in our cohort from Iowa.