Diagnostic markers for glaucoma: a patent and literature review (2013-2019)

ABSTRACT

Introduction: Glaucoma, a leading cause of irreversible blindness worldwide, is commonly diagnosed solely in advanced stages of the disease when important and irreversible losses of visual field have already occurred. The identification of effective biomarkers and methods for diagnostic purposes are main interests of the scientific community.

Areas covered: This review presents an overview of the current diagnostic methods used for glaucoma and introduces the areas where new efforts are being done for the identification of more sensitive and specific biomarkers. The review then covers the patent literature of the period 2013–2019 regarding diagnostic approaches and biomarkers of glaucoma and the claimed methods for their qualitative and/or quantitative analysis.

Expert opinion: In the absence of treatment, glaucoma can cause blindness in a few years. Early diagnostic tools are urgently needed, as this disease incidence is deemed to rapidly increase in the next decades. The current diagnosis of glaucoma, which is based on specific signs of the disease, such as high intraocular pressure, specific optic nerve head changes and visual field loss, is not enough anymore. Molecular genetics represents the area where most efforts are currently made to improve the early detection and monitoring of the disease progression.

KEYWORDS:

• Biomarkers
• diagnosis
• expression
• POAG
• molecular genetics

Article highlights

• Glaucoma is commonly diagnosed at an advanced stage of the disease preventing a timely intervention, which could avoid important and irreversible losses of visual field.

• The identification of effective biomarkers and methods for diagnostic purposes are the main interests of the scientific community.

• Many specific mutations have been identified in the genetic code of patients that showed certain phenotypes of the disease.

• Mutations associated with the myocilin gene produce different, though commonly severe disease manifestations.

• The expression levels of a series of lncRNAs have been recently proposed as biomarkers for glaucoma.

• The growth differentiation factor 15 is a new biomarker for the early detection of neurodegeneration in glaucoma.

• Mitochondrial DNA haplogroups can be associated with risk factors for primary open-angle glaucoma.

• The depletion of hyaluronic acid may increase aqueous outflow resistance in the trabecular meshwork of POAG patients.

• The concentration of matrix metalloproteinases-9 in tear fluid can serve as a criterion for determining the progression of POAG.

This box summarizes key points contained in the article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.