Keratoconus: epidemiology, risk factors and diagnosis

Keratoconus is a bilateral, non-inflammatory and progredient corneal ectasia with an incidence of approximately 1 per 2,000 in the general population. Within the second decade of life the cornea develops a conical shape, due to thinning of the corneal stroma with subsequent irregular astigmatism and myopia leading to marked impairment of vision. The most common presentation of the keratoconus is as a sporadic disorder, but it has long been recognized that a significant minority of patients exhibit a family history as an autosomal dominant mode of inheritance. Most investigators suggest complete penetrance of predisposing factors with variable phenotypic expression. In some patients heterozygous mutations in the VSX1 gene are described as the underlying gene defect. An association with Down syndrome, monosomia X (Turner syndrome), Leber's congenital amaurosis, mitral valve prolaps, collagenosis, retinitis pigmentosa and Marfan syndrome is described. The role of corneal cells in the pathogenesis of keratoconus is supported by the published reports of recurrence of keratoconus in eyes after penetrating keratoplasty due to graft repopulation by the recipient cells. Placido-based computeed videokeratographic corneal curvature mapping systems, linked with pachymetry, are useful for identifying overt and subclinical cases of keratoconus. Different indices may quantify the clinical features of keratoconus and may improve the classification. We compared videokeratometric data (Fourier series harmonic analysis and wavefront analysis) in eyes with keratoconus to answer the question of which parameters are useful for early diagnosis of keratoconus.