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The Genetics of Keratoconus 

The Genetics of Keratoconus
The Genetics of Keratoconus

Marzena Gajecka

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date: 26 January 2022

Keratoconus is a noninflammatory thinning disorder of the cornea that results in bulging and distortion of the corneal curvature and surface (Fig. 16.1), altered refractive power of the eye (both axial and refractive), and reduced visual acuity. In advanced cases, corneal scarring from corneal edema and decompensation further reduces visual acuity. Symptoms are highly variable and depend on the stage of progression of the disorder.1,2 Keratoconus has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States.1 The prevalence of keratoconus has been reported to vary in different studies, from 8.8 to 54.4 per 100,000;3,4,5 the variation is in part due to the different diagnostic criteria used in each study. Ethnic origin influences the incidence of keratoconus. An incidence of keratoconus of 25 per 100,000 (1 in 4,000) per year for Asians, compared with 3.3 per 100,000 (1 in 30,000) per year for Caucasians (p 〈0.001), has been reported.6 Previously, a comparative study from Britain described a fourfold greater incidence of keratoconus in Asians from the Indian subcontinent compared to Caucasians living in the same geographic area.7 This chapter will concentrate on the genetic aspect of this disease and will not cover clinical management.

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