The genetic and environmental factors for keratoconus.
TLDR
The detailed molecular mechanism underlying KC pathogenesis will significantly advance the understanding of KC and promote the development of potential therapies.Abstract:
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine mapping in linkage region, genome-wide association studies, and candidate genes analyses. A number of genes have been discovered at a relatively rapid pace. The detailed molecular mechanism underlying KC pathogenesis will significantly advance our understanding of KC and promote the development of potential therapies.read more
Citations
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Journal Article
VSX1: A gene for Posterior Polymorphous Dystrophy and Keratoconus
Elise Heon,Kelly K. Kopp,Rod Bremner,Daniel B. Rootman,RL Chow,K Dorval,Andrea L Vincent,C.A. Westall,John E. Sutphin,Edwin M. Stone +9 more
TL;DR: This article identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus.
Journal ArticleDOI
The Prevalence and Risk Factors for Keratoconus: A Systematic Review and Meta-Analysis.
Hassan Hashemi,Samira Heydarian,Elham Hooshmand,Mohammad Saatchi,Abbasali Yekta,Mohamadreza Aghamirsalim,Mehrnaz Valadkhan,Mehdi Mortazavi,Alireza Hashemi,Mehdi Khabazkhoob +9 more
TL;DR: The results of this study showed that keratoconus had a low prevalence in the world and eye rubbing, family history of keratconus, allergy, asthma, and eczema were the most important risk factors according to the available evidence.
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Pediatric keratoconus: a review of the literature.
TL;DR: Pediatric ker atoconus is more aggressive than adult keratoconus, and current therapies used in adults may not be sufficient for the pediatric population, according to the literature.
Journal ArticleDOI
Keratoconus: An updated review
Jacinto Santodomingo-Rubido,Gonzalo Carracedo,Asaki Suzaki,César Villa-Collar,Stephen J. Vincent,James S. Wolffsohn +5 more
TL;DR: Keratoconus is a bilateral and asymmetric disease which results in progressive thinning and steeping of the cornea leading to irregular astigmatism and decreased visual acuity as mentioned in this paper .
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Molecular and Histopathological Changes Associated with Keratoconus
TL;DR: The histopathological features of different layers of cornea and the differentially expressed proteins in the KC-affected cornea are summarized and discussed to help emphasize the major molecular defects in KC and identify additional research areas related to KC.
References
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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TL;DR: Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
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TL;DR: Experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders and set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.
Investigative Ophthalmology and Visual Science
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Genomewide Association Studies and Assessment of the Risk of Disease
TL;DR: The design of genomewide association studies is described and the extent to which the data they provide are useful in predicting the risk of disease is considered.
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Keratoconus and related noninflammatory corneal thinning disorders
TL;DR: The past and present literature on corneal thinning disorders is reviewed, practical approaches to diagnosis and management are outlined and treatment ranges from simple spectacle correction to keratoplasty.