A Cohort-Based Genetic Analysis of Keratoconus in Turkey Reveals a Substantial Proportion of Novel Variants and Suggests Possible Oligogenic Contributions to Keratoconus.

Abstract excerpt

Background/Objectives: Keratoconus is a corneal disorder that causes thinning and bulging of the cornea, resulting in astigmatism and other refractive errors. Mechanical effects and environmental factors are known to exacerbate the disease, and genetic predisposition plays a significant role in its development. Methods: This study investigated the presence of genetic variants in 32 keratoconus patients. We used a...

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