Abstract
Background:Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease.Conclusion:The review focuses on current knowledge of these genetic risk factors associated with keratoconus.
Highlights
Keratoconus (KC), comes from the Greek words keras and konos
Environmental factors, which have been recognized, are: eye rubbing, atopy and Ultraviolet light (UV) exposure, the relative contribution of all these factors is currently unknown [12].The theory goes that environmental factors are causing oxidative stress to KC corneas and, because of the inability of KC corneas to process reactive oxygen species (ROS), a degradation process is initiated that leads to corneal thinning and loss of vision [13] due to a lack of corneal enzymes such as aldehyde dehydrogenase class 3 (ALDH3), catalase, or superoxide dismutase to remove or neutralize the ROS [14]
We will focus on VSX1, MIR184, and DOCK9 and SOD1 in addition to other candidate single nucleotide polymorphisms (SNPs) in other genetic loci
Summary
Keratoconus is characterized as a bilateral, progressive, non-inflammatory thinning of the cornea resulting in blurred vision due to irregular astigmatism. Keratoconus has a multifactorial etiology, with multiple genetic and environmental components contributing to the disease pathophysiology. Several genomic loci and genes have been identified that highlight the complex molecular etiology of this disease
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