Gene therapy in keratoconus.

Area of Science:

• Ophthalmology
• Genetics
• Biotechnology

Background:

• Keratoconus (KC) is the most prevalent corneal ectasia, frequently necessitating corneal transplantation.
• Evidence increasingly points to a significant genetic role in KC pathogenesis, with identified loci and mutations.
• Current therapeutic strategies focus on arresting disease progression and addressing underlying mechanisms.

Purpose of the Study:

• To explore the potential of gene therapy as a therapeutic strategy for keratoconus.
• To highlight the suitability of corneal tissue for gene therapy due to its unique biophysical properties.

Main Methods:

• Review of existing data on the genetic basis of keratoconus.
• Analysis of the cornea's biophysical properties relevant to gene therapy.
• Evaluation of advancements in gene therapy vectors and corneal milieu modulation.

Main Results:

• Strong evidence supports a genetic etiology for keratoconus.
• The cornea possesses favorable properties for gene therapy, including immune privilege, transparency, and ex vivo stability.
• Advances in vectors and gene delivery enhance the prospects for successful corneal gene therapy.

Conclusions:

• Gene therapy presents a hopeful avenue for treating keratoconus by targeting its genetic underpinnings.
• The cornea's unique characteristics and progress in gene therapy technology support its potential for clinical application in managing KC.