No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.

摘要

To the Editor: Pasutto et al. recently reported that heterozygous NTF4 (MIM 162662) sequence variants confer an increased risk of primary open-angle glaucoma (POAG [MIM 137760]).1 In an effort to replicate these findings, we sequenced the complete NTF4 coding region in a large dataset of European ancestry. The research was reviewed and approved by the Institutional Review Board of Duke University Medical Center (Durham, NC) and was in accordance with the tenets of the Declaration of Helsinki. Our dataset contained 443 POAG cases and 533 controls. Enrollment criteria for unrelated POAG cases included (1) age of onset greater than 30 years; (2) glau-comatous optic neuropathy affecting both eyes; and (3) glaucomatous visual field loss affecting at least one eye. Intraocular pressure (IOP) was not an enrollment criterion. Eighteen POAG cases with normal IOP were included in our dataset. Exclusion criteria included the presence of any secondary form of glaucoma, including exfoliation syndrome, or a history of ocular trauma. The criteria for unrelated control subjects were (1) IOP less than 21 mmHg; (2) no evidence of glaucomatous optic neuropathy; and (3) normal visual field by either automated perimetry or frequency doubling test (FDT).