The genetic and environmental factors for keratoconus

Area of Science:

• Ophthalmology
• Genetics
• Epidemiology

Background:

• Keratoconus (KC) is the most prevalent corneal ectatic disorder.
• It causes myopia, irregular astigmatism, and vision impairment due to a cone-shaped cornea.
• KC affects diverse populations and genders, with multifactorial etiology.

Purpose of the Study:

• To review current research on Keratoconus epidemiology and genetic factors.
• To summarize environmental influences and genetic discoveries in KC pathogenesis.
• To highlight the need for understanding molecular mechanisms for therapy development.

Main Methods:

• Literature review of epidemiological and genetic studies on Keratoconus.
• Analysis of evidence from family-based linkage, genome-wide association studies, and candidate gene analyses.
• Synthesis of research on environmental factors such as eye rubbing, atopy, and sun exposure.

Main Results:

• Identified environmental factors contributing to KC pathogenesis include eye rubbing, atopy, sun exposure, and geography.
• Numerous genes implicated in KC have been discovered rapidly through various genetic analyses.
• Current research provides a foundation for understanding KC's complex etiology.

Conclusions:

• Keratoconus pathogenesis involves a complex interplay of environmental and genetic factors.
• Continued genetic research is crucial for unraveling molecular mechanisms.
• Enhanced understanding may lead to novel therapeutic strategies for vision impairment.