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Genetics in Keratoconus - What is New?

Sarah Moussa¹, Günther Grabner¹, Josef Ruckhofer¹

¹Paracelsus Medical University Salzburg, Department of Ophthalmology and Optometry, Müllner Hauptstr. 48, 5020 Salzburg, Austria.

The Open Ophthalmology Journal

|September 22, 2017

Summary

This review summarizes genetic risk factors contributing to keratoconus, a progressive corneal thinning disease. Understanding these factors is crucial for developing targeted therapies for keratoconus patients.

Keywords:

Environmental risk factors Genetics Genomic loci Irregular astigmatism Keratoconus Non-inflammatory

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Area of Science:

Ophthalmology
Genetics
Corneal Diseases

Background:

Keratoconus is a bilateral, progressive, non-inflammatory thinning of the cornea.
It leads to blurred vision and irregular astigmatism.
The condition arises from a complex interplay of genetic and environmental 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:

Literature review of genetic studies on keratoconus.
Analysis of identified genomic loci and genes associated with the disease.

Main Results:

Multiple genetic loci and specific genes have been implicated in keratoconus pathophysiology.
These findings underscore the multifactorial genetic basis of the condition.

Conclusions:

Genetic factors play a significant role in the development of keratoconus.
Further research into these genetic risk factors is essential for understanding and managing the disease.