Show Summary Details
Page of

The Genetics of Keratoconus 

The Genetics of Keratoconus
The Genetics of Keratoconus

Marzena Gajecka

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 24 June 2021

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.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.