GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.

DNA copy number variants (CNVs) have been reported in many human diseases including autism and schizophrenia. Primary Open Angle Glaucoma (POAG) is a complex adult-onset disorder characterized by progressive optic neuropathy and vision loss. Previous studies have identified rare CNVs in POAG; however, their low frequencies prevented formal association testing.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Purpose: Coding variants in the optineurin gene (OPTN, GLC1E) have been reported to play a role in primary open-angle glaucoma (POAG) in various populations. This study investigated the role of OPTN sequence variants in patients with POAG in Ghana (West Africa).

Methods: This is a case-control study of unrelated Ghanaian POAG cases and non-glaucomatous controls.

Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.

Purpose: Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations.

Methods: POAG was defined as the presence of glaucomatous optic nerve damage, associated visual field loss, and elevated intraocular pressure (>22 mm Hg in both eyes).

Health literacy and adherence to glaucoma therapy.

Purpose: To describe the health literacy of subjects with open angle glaucoma and to investigate the hypothesis that low health literacy is associated with poor glaucoma medication adherence.

Design: Cross-sectional patient survey and concomitant chart review.

Methods: One hundred and ninety-seven subjects with open angle glaucoma participated in a survey which included basic demographic information such as age, gender, ethnicity, and level of education completed, and a test of heath literacy, the Rapid Assessment of Adult Literacy in Medicine.