Precision medicine to prevent glaucoma-related blindness

Abstract

Purpose of review: Approximately 10% of patients become blind despite using evidence-based guidelines developed from clinical trials and epidemiology studies. Our purpose is to review opportunities to decrease glaucoma-related blindness using the emerging principles of precision medicine.Recent findings: This review focuses on three topics: 1) candidate biomarkers for angle-based surgeries, 2) head-mounted display (HMD) technology for vision and testing, and 3) glaucoma risk alleles discovered by genome-wide association studies (GWAS). First, in angle-based surgeries, tracers injected into the anterior chamber or Schlemm's canal (SC) have allowed visualization of aqueous veins. We describe an innovative use of optical coherence tomography angiography (OCTA) to visualize aqueous veins in a case with 6-year successful outcome following catheter-based trabeculotomy. Second, HMD technology can augment perceived vision and can be used for perimetry testing. Third, developing genetic risk scores that characterize

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

“…As a risk factor of permanent blindness, approximately 10% of patients with glaucoma become blind despite improvement of clinical treatment. 13 Here we found a disease-causing variant in OAS3 from a Chinese JOAG family. During the cosegregation analysis, we considered two family members IV:2 and IV:3 as healthy controls.…”

“…For instance, patients with normal-tension glaucoma also show retinal ganglion cell (RGC) loss; on the other hand, patients with high IOP contain healthy RGCs. 13,14 Inflammation was frequently observed in ocular tissues of patients with glaucoma, such as interleukin-20, 15 neuroinflammation, 16 and other cytokines. 17 Prostaglandins are small proinflammatory molecules derived from arachidonic acid and their analogues are frequently used to treat glaucoma.…”

Current Medical Therapy and Future Trends in the Management of Glaucoma Treatment

“…Using the large data set machine learning can cluster patients based on their genomic similarity and detect relevant pathways that are disrupted in glaucoma [153]. Investigation of these pathways can detect new biomarkers for glaucoma diagnosis, prognosis, and new therapeutic targets, which after validation will help ophthalmologists to identify patients with high risk of progression and treat them more aggressively and avoid unnecessary treatment to many subjects [154].…”

Minimally Invasive Glaucoma Surgery: What Do We Know? Where Should We Go?

“…Aqueous angiography with two-dye perfusion was employed ex vivo to test whether low flow regions could be improved and rescued in cow and cadaver human eyes. 45,46 However, such studies are not yet feasible to be performed in vivo in living human eyes.…”

“…OCT is widely used to visualize SC, the CC, and the more distal structures. Recently, Moroi et al 46 developed an innovative application of OCT angiography to visualize the aqueous veins. In the latest SIG, Dr Moroi presented a case with a fluorescein tracer observed at the time of trabeculotomy and an OCT angiography map obtained 5 years later.…”