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Review
. 2017 Nov-Dec;62(6):770-783.
doi: 10.1016/j.survophthal.2017.06.009. Epub 2017 Jul 6.

A review of keratoconus: Diagnosis, pathophysiology, and genetics

Veronica Mas Tur  1 , Cheryl MacGregor  1 , Rakesh Jayaswal  1 , David O'Brart  2 , Nicholas Maycock  3
Affiliations
Review

A review of keratoconus: Diagnosis, pathophysiology, and genetics

Veronica Mas Tur et al. Surv Ophthalmol. 2017 Nov-Dec.

Abstract

We discuss new approaches to the early detection of keratoconus and recent investigations regarding the nature of its pathophysiology. We review the current evidence for its complex genetics and evaluate the presently identified genes/loci and potential candidate gene/loci. In addition, we highlight current research methodologies that may be used to further elucidate the pathogenesis of keratoconus.

Keywords: genetics; keratoconus; review article.

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