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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| Published in: | Survey of ophthalmology Vol. 62; no. 6; pp. 770 - 783 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Elsevier Inc
01.11.2017
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| Subjects: | |
| ISSN: | 0039-6257, 1879-3304, 1879-3304 |
| Online Access: | Get full text |
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| 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. |
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| AbstractList | 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. 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.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. |
| Author | Maycock, Nicholas Mas Tur, Veronica Jayaswal, Rakesh MacGregor, Cheryl O'Brart, David |
| Author_xml | – sequence: 1 givenname: Veronica surname: Mas Tur fullname: Mas Tur, Veronica organization: Eye Department, Queen Alexandra Hospital, Portsmouth, Hants, United Kingdom – sequence: 2 givenname: Cheryl surname: MacGregor fullname: MacGregor, Cheryl organization: Eye Department, Queen Alexandra Hospital, Portsmouth, Hants, United Kingdom – sequence: 3 givenname: Rakesh surname: Jayaswal fullname: Jayaswal, Rakesh organization: Eye Department, Queen Alexandra Hospital, Portsmouth, Hants, United Kingdom – sequence: 4 givenname: David surname: O'Brart fullname: O'Brart, David organization: Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom – sequence: 5 givenname: Nicholas surname: Maycock fullname: Maycock, Nicholas email: nicholas.maycock@me.com organization: Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28688894$$D View this record in MEDLINE/PubMed |
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| Copyright | 2017 Elsevier Inc. Copyright © 2017 Elsevier Inc. All rights reserved. |
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| SubjectTerms | 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 |
| Title | A review of keratoconus: Diagnosis, pathophysiology, and genetics |
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