Potential underlying genetic associations between keratoconus and diabetes mellitus

• Published in: Advances in ophthalmology practice and research Vol. 1; no. 1; p. 100005
• Main Authors: Ates, Kristin M., Estes, Amy J., Liu, Yutao
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.11.2021; Elsevier
• Subjects: Collagen crosslinking; Diabetes; Genetics; Keratoconus; Oxidative stress; Oxidative stress; Genetics; Diabetes; Keratoconus; Collagen crosslinking
• ISSN: 2667-3762; 2667-3762
• DOI: 10.1016/j.aopr.2021.100005

Keratoconus (KC) is the most common ectatic corneal disease, characterized by significantly localized thinning of the corneal stroma. Genetic, environmental, hormonal, and metabolic factors contribute to the pathogenesis of KC. Additionally, multiple comorbidities, such as diabetes mellitus, may affect the risk of KC. Patients with diabetes mellitus (DM) have been reported to have lower risk of developing KC by way of increased endogenous collagen crosslinking in response to chronic hyperglycemia. However, this remains a debated topic as other studies have suggested either a positive association or no association between DM and KC. To gain further insight into the underlying genetic components of these two diseases, we reviewed candidate genes associated with KC and central corneal thickness in the literature. We then explored how these genes may be regulated similarly or differentially under hyperglycemic conditions and the role they play in the systemic complications associated with DM. Our comprehensive review of potential genetic factors underlying KC and DM provides a direction for future studies to further determine the genetic etiology of KC and how it is influenced by systemic diseases such as diabetes. •Keratoconus (KC) could be attributed to genetic, environmental, hormonal, metabolic factors.•Among many comorbidities, diabetes mellitus (DM) could be associated with KC negatively.•We provided a comprehensive review on the potential connections between KC and DM.•Underlying genes may be involved in biomechanics, extracellular matrix dynamics, inflammation, and oxidative stress.