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Genetics of keratoconus: where do we stand?
Khaled K Abu-Amero1, Abdulrahman M Al-Muammar2, Altaf A Kondkar3
1Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh 11411, Saudi Arabia ; Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, Riyadh 11411, Saudi Arabia ; Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL 32209, USA.
Keratoconus, a corneal disease, involves genetic factors. This review details known genetic risk factors contributing to its complex multifactorial etiology and pathophysiology.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Keratoconus is a progressive condition causing corneal thinning and protrusion.
- This leads to distorted vision and altered refractive power.
- Its development involves environmental, behavioral, and genetic factors.
Purpose of the Study:
- To review current knowledge on genetic risk factors for keratoconus.
- To highlight the complex molecular etiology of the disease.
Main Methods:
- Genome-wide association studies (GWAS).
- Candidate gene approaches.
- Literature review of identified genomic loci and genes.
Main Results:
- Several genomic loci and genes associated with keratoconus have been identified.
- These findings underscore the multifactorial genetic basis of the condition.
Conclusions:
- Genetic factors play a significant role in keratoconus development.
- Further research into these genetic components is crucial for understanding and potentially treating keratoconus.
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