A review of keratoconus: Diagnosis, pathophysiology, and genetics

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...

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Bibliographic Details
Published in:Survey of ophthalmology Vol. 62; no. 6; pp. 770 - 783
Main Authors: Mas Tur, Veronica, MacGregor, Cheryl, Jayaswal, Rakesh, O'Brart, David, Maycock, Nicholas
Format: Journal Article
Language:English
Published: United States Elsevier Inc 01.11.2017
Subjects:
Biomechanical Phenomena
Corneal Topography - methods
Diagnostic Techniques, Ophthalmological
Eye Proteins - genetics
Genetic Loci
Genetic Predisposition to Disease
genetics
Humans
Intercellular Signaling Peptides and Proteins - genetics
keratoconus
Keratoconus - diagnosis
Keratoconus - genetics
Keratoconus - physiopathology
Mass Screening - methods
MicroRNAs - genetics
Mutation
review article
Risk Factors
review article
keratoconus
genetics
ISSN:0039-6257, 1879-3304, 1879-3304
Online Access:Get full text
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
ObjectType-Review-3
content type line 23
ISSN:0039-6257
1879-3304
1879-3304
DOI:10.1016/j.survophthal.2017.06.009