Modern Pathogenesis of Keratoconus: Genomics and Proteomics

The pathogenesisof keratoconusremains unknown. This review focuses on recent advances in the knowledge of keratoconusbiology from a gene and protein expression. Biological hypotheses were investigated either on a candidate approach or on global approaches. Candidate approach relies on the knowledge of the disease pathology and biochemistry, or on association of keratoconuswith other genetic or ophthalmologic diseases. Global approach aims to identify the origin of keratoconuswithout taking into account any preconceived ideas of the pathophysiology of the disease. Despite a great deal of research, the pathogenesisof keratoconusis still poorly understood. If genetic susceptibility is probably a key factor in the occurrence of keratoconus, as with many complex diseases, distinguishing between primary disease mechanisms from secondary effects is extremely challenging.