Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.

ABSTRACT:

Purpose

To characterize features of glaucoma associated with a TANK binding kinase 1 (TBK1) gene duplication, which is among the most common molecularly defined causes of normal tension glaucoma (NTG).

Design

Retrospective observational case series.

Methods

We conducted a retrospective case series, by reviewing medical records of 7 members of a pedigree with NTG caused by TBK1 gene duplications. Clinical features of these patients at diagnosis, throughout management, and at latest follow-up were identified, including age, intraocular pressure (IOP), central corneal thickness (CCT), optic nerve head appearance, and mean deviation (MD) assessed with Humphrey visual field (HVF) testing protocols.

Results

At initial diagnosis, the mean age was 35 ± 7 years, IOP was

SUBMITTER: Quist TS 

PROVIDER: S-EPMC7282998 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature