Update on the genetics of keratoconus
- Resource Type
- Authors
- Yaron S. Rabinowitz; Yelena Bykhovskaya
- Source
- Experimental eye research. 202
- Subject
- 0301 basic medicine
Keratoconus
genetic structures
Ultraviolet Rays
Riboflavin
Population
Genome-wide association study
Computational biology
Biology
Transcriptome
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
medicine
Tissue specific
Genomic medicine
Animals
Humans
education
Gene
Genetic association
education.field_of_study
Photosensitizing Agents
medicine.disease
eye diseases
Sensory Systems
Ophthalmology
030104 developmental biology
Cross-Linking Reagents
Photochemotherapy
030221 ophthalmology & optometry
sense organs
Collagen
Genome-Wide Association Study
- Language
- ISSN
- 1096-0007
In the past few years we have seen a great acceleration of discoveries in the field of keratoconus including new treatments, diagnostic tools, genomic and molecular determinants of disease risk. Recent genome-wide association studies (GWAS) of keratoconus cases and population wide studies of variation in central corneal thickness and in corneal biomechanical properties confirmed already identified genes and found many new susceptibility variants and biological pathways. Recent findings in genetic determinants of familial keratoconus revealed functionally important variants and established first mouse model of keratoconus. Latest transcriptomic and expression studies started assessing novel non-coding RNA targets in addition to identifying tissue specific effects of coding genes. First genomic insights into better prediction of treatment outcomes are bringing the advent of genomic medicine into keratoconus clinical practice.