Gene Therapy May Be the Next Generation of Keratoconus Treatment

Keratoconus (KC) is a kind of corneal disease characterized by corneal dilatation, which causes the central part of the cornea to bulge forward, become thinner, and produce a high degree of irregular astigmatism. It usually occurs in adolescents and often causes malfunction in eyes such as corneal astigmatism, corneal edema, and corneal scars.

The current treatment methods mainly include RGP lens and surgical treatment. Patients of early mild KC can choose to wear rigid gas permeable (RGP) lens to improve visual quality according to the results of corneal examinations, and it can also inhibit the development of KC to a certain extent. Surgical treatment mainly includes penetrating keratoplasty and lamellar keratoplasty.

Recently, a team of international researchers conducted a new study on KC, which discovered for the first time specific DNA variants that can provide clues about how the disease develops. The research team conducted a relatively complete genetic screening, including 4,669 patients with KC and 116547 people without the disease. The research team found the significantly altered short DNA sequence in the genome of the KC population.

Every cell in various tissues of the human body has a set of genetic codes, which are stored in deoxyribonucleic acid (DNA) molecules in the nucleus. In this era, the emergence of gene therapy has opened another door for human beings—some gene therapies have been developed, and are saving lives. They provide unlimited possibilities for the extension of human life and the improvement of the survival rate. Now, this study found that gene therapy may provide a new strategy for the treatment of KC.

The findings in this research indicate that the collagen network in the cornea of patients with KC is often defective, and the cell programming may be abnormal, which affects their development. Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of KC. It is also important to identify any remaining genetic variants in patients with KC not included in this study.

A large number of papers have shown the role of genes in the pathogenesis of KC, and further research will complete this complex problem. This research brings science closer to early diagnosis and may even become a new therapeutic target, indicating that gene therapy is an innovative option to address KC.

"Biophysical properties of the cornea, including immune privilege, transparency, and stability, make gene therapy highly possible." as introduced by a scientist from Creative Biolabs. The basics of the technique are the same as for other tissues: the target gene sequence is modified by a viral vector which integrates into the cell DNA. The modified sequence provides translation of a healthy and functional protein so that the disease could be healed. Despite recent advantages in vectors and in the ability to modulate corneal milieu to increase gene therapy acceptance, more studies are still required.

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