2020–2021 BCSC Basic and Clinical Science Course™
Chapter 1: Introduction to Glaucoma: Terminology, Epidemiology, and Genetics
Familial Normal-Tension Glaucoma
Familial normal-tension glaucoma (NTG) is associated with mutations in optineurin (OPTN) and copy number variations involving TANK-binding kinase 1 (TBK1). These genes encode proteins that interact with each other and are involved in autophagy. These genetic abnormalities are associated with early-onset autosomal dominant familial NTG and account for approximately 2%–3% of cases.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.