Mutations in EFEMP1 in patients with juvenile open-angle glaucoma (JOAG)

Ophthalmol Glaucoma. 2023 May 22;S2589-4196(23)00085-6. doi: 10.1016/j.ogla.2023.05.006. Online ahead of print.


Purpose: Determine the role of the EFEMP1 gene in the pathogenesis of juvenile open-angle glaucoma (JOAG).

Design: Prospective case-control PARTICIPANTS: 72 JOAG and 215 POAG patients and 362 controls from Iowa.

Methods: DNA was tested for coding sequence mutations in the EFEMP1gene using Sanger or whole exome sequencing.

Results: 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).

Conclusion: EFEMP1 mutations are not a common cause of glaucoma in our cohort from Iowa.

Keywords: EFEMP1; Genetics; Glaucoma; JOAG; Juvenile open-angle glaucoma; POAG; primary open angle glaucoma.