The genetics of central corneal thickness

Dimasi, David P.; Burdon, Kathryn P.; Craig, Jamie E

doi:10.1136/bjo.2009.162735

Cited by 95 publications

(79 citation statements)

References 95 publications

(72 reference statements)

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“…There has been much interest in defining loci associated with central corneal thickness (CCT), which is a highly heritable quantitative trait. 89 Reduced CCT is a hallmark of KC and a risk factor for primary open-angle glaucoma. 90 Recently, an elegant and extensive study described a meta-analysis of GWAS for CCT that included over 20 000 Caucasian and Asian individuals.…”

Section: Geneticsmentioning

confidence: 99%

The pathogenesis of keratoconus

Davidson¹,

Hayes

Hardcastle³

et al. 2013

Eye

285

200

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Keratoconus (KC) is a common degenerative condition that frequently results in visual loss with an onset typically in early adulthood. It is the single most common reason for keratoplasty in the developed world. The cause and underlying pathological mechanism are unknown, but both environmental and genetic factors are thought to contribute to the development of the disease. Various strategies have been employed to address the gap in our understanding of this complex disease, with the expectation that over time more sophisticated therapies will be developed. In this review we summarise our current knowledge of the aetiology and risk factors associated with KC.

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Section: Geneticsmentioning

confidence: 99%

The pathogenesis of keratoconus

Davidson¹,

Hayes

Hardcastle³

et al. 2013

Eye

285

200

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“…[73][74][75] Nevertheless, there is no consensus on the clinical significance of the effect of CCT on IOP measurements. 76 No correlation was found between CCT and IOP (or any of the other predictors) in either the OHTS or the EGPS. This may be owing to exclusion of patients with normal or very low IOPs and also those with very high IOPs.…”

Section: Systematic Reviewmentioning

confidence: 85%

“…[87][88][89] Because thinner CCT has also been found to predict progression of visual loss in patients with OAG, it is plausible that a biological link exists between aspects of the cornea that regulate its thickness and the physical and structural properties of tissues involved in glaucoma pathogenesis. 76 Choice of one eye, two eyes or worse eye Glaucoma can affect either eye or both eyes but it is often asymmetrical, occurring first in one eye only. The prediction models use the mean of the measurements taken from both eyes for all of the eye-specific predictors.…”

Section: Systematic Reviewmentioning

confidence: 99%

“…The Salvetat 144 study met all of the specified criteria. Meta-analysis of agreement between TonoPen and Goldmann applanation tonometer Fourteen studies 76,138,140,144,153,157,166,169,188,191,197,206,207,216 provided sufficient data to be included in the meta-analysis. The full results of the agreement analyses of TonoPen and GAT are given in Appendix 4.…”

Section: Quality Assessmentmentioning

confidence: 99%

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Surveillance for ocular hypertension: an evidence synthesis and economic evaluation

2012

Clinical Governance: An International Journal

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How to obtain copies of this and other HTA programme reports An electronic version of this title, in Adobe Acrobat format, is available for downloading free of charge for personal use from the HTA website (www.hta.ac.uk). A fully searchable DVD is also available (see below).Printed copies of HTA journal series issues cost £20 each (post and packing free in the UK) to both public and private sector purchasers from our despatch agents.Non-UK purchasers will have to pay a small fee for post and packing. For European countries the cost is £2 per issue and for the rest of the world £3 per issue. How to order:-fax (with credit card details) -post (with credit card details or cheque) -phone during office hours (credit card only).Additionally the HTA website allows you to either print out your order or download a blank order form. Contact details are as follows:Synergie UK (HTA Department) Digital House, The Loddon Centre Wade Road Basingstoke Hants RG24 8QW Email: orders@hta.ac.uk Tel: 0845 812 4000 -ask for 'HTA Payment Services' (out-of-hours answer-phone service) Fax: 0845 812 4001 -put 'HTA Order' on the fax header Payment methods Paying by chequeIf you pay by cheque, the cheque must be in pounds sterling, made payable to University of Southampton and drawn on a bank with a UK address.Paying by credit card You can order using your credit card by phone, fax or post. SubscriptionsNHS libraries can subscribe free of charge. Public libraries can subscribe at a reduced cost of £100 for each volume (normally comprising 40-50 titles). The commercial subscription rate is £400 per volume (addresses within the UK) and £600 per volume (addresses outside the UK). Please see our website for details. Subscriptions can be purchased only for the current or forthcoming volume.How do I get a copy of HTA on DVD?Please use the form on the HTA website (www.hta.ac.uk/htacd/index.shtml). HTA on DVD is currently free of charge worldwide.The website also provides information about the HTA programme and lists the membership of the various committees. HTA NIHR Health Technology Assessment programmeThe Health Technology Assessment (HTA) programme, part of the National Institute for Health Research (NIHR), was set up in 1993. It produces high-quality research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS. 'Health technologies' are broadly defined as all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long-term care. The research findings from the HTA programme directly influence decision-making bodies such as the National Institute for Health and Clinical Excellence (NICE) and the National Screening Committee (NSC). HTA findings also help to improve the quality of clinical practice in the NHS indirectly in that they form a key component of the 'National Knowledge Service' . The HTA programme is needs led in that it fills gaps in the evidence needed by the NHS. There are three routes to the start of projects...

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“…Although there is strong evidence of a genetic component for normal CCT variation, no genes have been identified for a long time (Dimasi et al, 2010). One of several genome-wide association study provided a genetic loci associated with CCT on chromosomes 9q34 and 16q24, which can be potentially related to open-angle glaucoma for association with CCT (Hoehn et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Genetic Covariance Between Central Corneal Thickness and Anterior Chamber Volume: A Hungarian Twin Study

et al. 2014

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Background: Few, and inconsistent, studies have showed high heritability of some parameters of the anterior segment of the eye; however, no heritability of anterior chamber volume (ACV) has been reported, and no study has been performed to investigate the correlation between the ACV and central corneal thickness (CCT). Methods: Anterior segment measurements (Pentacam, Oculus) were obtained from 220 eyes of 110 adult Hungarian twins (41 monozygotic and 14 same-sex dizygotic pairs; 80% women; age 48.6 ± 15.5 years) obtained from the Hungarian Twin Registry. Results: Age-and sex-adjusted heritability of ACV was 85% (bootstrapped 95% confidence interval; CI: 69% to 93%), and 88% for CCT (CI: 79% to 95%). Common environmental effects had no influence, and unshared environmental factors were responsible for 12% and 15% of the variance, respectively. The correlation between ACV and CCT was negative and significant (r ph = -0.35, p < .05), and genetic factors accounted for the covariance significantly (0.934; CI: 0.418, 1.061) based on the bivariate Cholesky decomposition model. Conclusion: These findings support the high heritability of ACV and central corneal thickness, and a strong genetic covariance between them, which underscores the importance of identification of the specific genetic factors and the family risk-based screening of disorders related to these variables, such as open-angle and also angle closure glaucoma and corneal endothelial alterations.

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The genetics of central corneal thickness

Cited by 95 publications

References 95 publications

The pathogenesis of keratoconus

The pathogenesis of keratoconus

Surveillance for ocular hypertension: an evidence synthesis and economic evaluation

Genetic Covariance Between Central Corneal Thickness and Anterior Chamber Volume: A Hungarian Twin Study

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