Glaucoma – risk factors and current challenges in the diagnosis of a leading cause of visual impairment

• Published in: Maturitas 2022-09, Vol.163, p.15-22
• Main Authors: Lee, Samantha Sze-Yee, Mackey, David A.
• Format: Article
• Language: English
• Subjects: Diagnosis; Gene-based screening; Glaucoma; glaucoma screening; Risk factors
• ISSN: 0378-5122; 1873-4111
• DOI: 10.1016/j.maturitas.2022.05.002

•Visual impairment from glaucoma is in large part attributable to delayed diagnosis and treatment.•Recognising risk factors for glaucoma can improve diagnosis efficacy.•Having a family history of glaucoma significantly increases glaucoma risk.•Gene-based glaucoma screening has a potential for identifying high-risk individuals.•Raising public awareness of glaucoma is important to encourage regular eye tests. Worldwide, glaucoma affects about 3% of the population over the age of 50 years and is a leading cause of irreversible visual impairment among older people. Because glaucoma is asymptomatic in its early stages and can be challenging to diagnose clinically, it often remains undiagnosed until substantial vision loss has occurred. Efficient methods of glaucoma screening are therefore warranted for early detection of disease. Identification of risk factors for glaucoma – family history of glaucoma, older age, African or Asian ethnicities, raised intraocular pressure, and thin corneas — have helped inform guidelines on the recommended age at commencement and frequency of glaucoma screenings. A genetic predisposition or family history of glaucoma is one of the most important risk factors for the disease. However, an accurate family history cannot always be ascertained. Genetic testing for genes such as myocilin could help to identify high-risk individuals and, with further research, could even provide insight into individual patients' response to treatment. With the ongoing discovery of glaucoma-associated genes and the advent of polygenic risk scores to identify individuals at high risk of glaucoma, gene-based screening for glaucoma is becoming closer to realisation. In the meantime, regularly screening family members of people with existing glaucoma is an efficient way of detecting early glaucoma. Raising public awareness of glaucoma is also necessary to educate the general public on the key role of routine eye examinations and early disease detection. Future studies should be undertaken to explore efficient public health campaign methods for improving glaucoma awareness.