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Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology

หน่วยงาน Edinburgh Research Archive, United Kingdom

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ชื่อเรื่อง : Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology
นักวิจัย : Mitry, Danny
คำค้น : retinal detachment , genome wide association , epidemiology
หน่วยงาน : Edinburgh Research Archive, United Kingdom
ผู้ร่วมงาน : Campbell, Harry , Fleck, Brian , Wright, Alan , Chief Scientist Office (CSO)
ปีพิมพ์ : 2556
อ้างอิง : http://hdl.handle.net/1842/8923
ที่มา : -
ความเชี่ยวชาญ : -
ความสัมพันธ์ : Mitry D, Awan M.A., Borooah S, Rehman Siddiqui M.A., Brogan K,, Fleck B.W., Wright A.F, Campbell H., Singh J., Charteris D.G., Yorston D.Surgical outcome and risk stratification for primary retinal detachment repair - results from the Scottish Retinal Detachment Study British Journal of Ophthalmology May;96(5):730-4. Epub 2012 Jan 18 PMID: 22257789 , Mitry D, Singh J, Yorston D, Siddiqui MA, Wright A, Fleck BW, Campbell H, Charteris DG.The Predisposing Pathology and Clinical Characteristics in the Scottish Retinal Detachment Study. Ophthalmology. 2011 Jul;118(7):1429- 34. Epub 2011 May 10. PMID: 21561662 , Mitry D, Singh J, Yorston D, Siddiqui MA, Murphy AL, Wright AF, Fleck BW, Campbell H, Charteris DG. The fellow eye in retinal detachment: findings from the Scottish Retinal Detachment Study. Br J Ophthalmol. 2011 Mar 3. [Epub ahead of print] PubMed PMID: 21378003. , Mitry D, Campbell H, Charteris DG, Fleck BW, Tenesa A, Dunlop MG, Hayward C, Wright AF, Vitart V. SNP mistyping in genotyping arrays-an important cause of spurious association in case-control studies. Genet Epidemiol. 2011 Jan 19. doi: 10.1002/gepi.20559. [Epub ahead of print] PubMed PMID: 21254221. , Mitry D, Williams L, Charteris DG, Fleck BW, Wright AF, Campbell H. Population based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment. Invest Ophthalmol Vis Sci. 2011 Jan 18. [Epub ahead of print] PubMed PMID: 21245406. , Mitry D, Fleck BW, Wright AF, Campbell H, Charteris DG. Pathogenesis of rhegmatogenous retinal detachment: predisposing anatomy and cell biology. Retina. 2010 Nov-Dec;30(10):1561-72. Review. PubMed PMID: 21060268. , Mitry D, Tuft S, McLeod D, Charteris DG. Laterality and gender imbalances in retinal detachment. Graefes Arch Clin Exp Ophthalmol. 2010 Oct 1. [Epub ahead of print] PubMed PMID: 20886223. , Mitry D, Chalmers J, Anderson K, Williams L, Fleck BW, Wright A, Campbell H. Temporal trends in retinal detachment incidence in Scotland between 1987 and 2006. Br J Ophthalmol. 2011 Mar;95(3):365-9. Epub 2010 Jul 7. PubMed PMID: 20610474. , Mitry D, Charteris DG, Yorston D, Siddiqui MA, Campbell H, Murphy AL, Fleck BW, Wright AF, Singh J; Scottish RD Study Group. The epidemiology and socioeconomic associations of retinal detachment in Scotland: a two-year prospective population-based study. Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4963-8. Epub 2010 Jun 16. PubMed PMID: 20554615. , Saidkasimova S, Mitry D, Singh J, Yorston D, Charteris DG. Retinal detachment in Scotland is associated with affluence. Br J Ophthalmol. 2009 Dec;93(12):1591-4. Epub 2009 Sep 29. PubMed PMID: 19789169. , Mitry D, Charteris DG, Fleck BW, Campbell H, Singh J. The epidemiology of rhegmatogenous retinal detachment: geographical variation and clinical associations. Br J Ophthalmol. 2010 Jun;94(6):678-84. Epub 2009 Jun 9. Review. PubMed PMID: 19515646.
ขอบเขตของเนื้อหา : -
บทคัดย่อ/คำอธิบาย :

Primary rhegmatogenous retinal detachment (RRD) is one of the most common ophthalmic emergencies. RRD is caused by a full thickness break in the retina which initiates separation of the neurosensory retina from the underlying retinal pigment epithelium. The subsequent accumulation of fluid within this potential space extends the area of detachment and causes visual loss. Previous assessments of RRD incidence have demonstrated large differences in case definition and methodology, with incidence estimates varying 3-fold geographically and in different time periods. To date there have been no systematic or prospective incidence estimates of primary RRD in the U.K. In this thesis I present the findings of a 2-year epidemiology study that prospectively aimed to recruit all incident cases of primary RRD diagnosed in Scotland. Case recruitment from consenting participants comprised a detailed questionnaire and a blood sample. In this thesis, I present the findings of the Scottish retinal detachment study that examined the incidence, demographic features, temporal incidence trends, as well as clinical and socio-economic associations of primary RRD in Scotland. From the clinical and genetic resource I assembled, I calculated the first population based estimate of the sibling recurrence risk ratio for RRD and designed and assisted in the analysis of the first case-control genome wide association study of this condition. Results from this study have estimated the annual incidence of primary RRD in Scotland to be 12.05 per 100,000 population. Based on this estimate, there are approximately 7,300 new cases annually in the United Kingdom. RRD incidence increases with age, is more common in men and right eyes, and is strongly associated with socio-economic affluence. In addition, using hospital episode data, the overall age-standardised incidence of RRD in Scotland was shown to be steadily increasing since 1987 with an average annual increase of 1.9%. Analysis of the clinical findings highlighted that the majority of RRD cases are caused by more than one retinal break; an important consideration for appropriate surgical management. Ocular trauma, previous cataract surgery, family history, and retinal degeneration are important predisposing features. In addition, over a 2 year period approximately 7% of individuals will suffer a RRD in the fellow eye representing an important risk of bilateral visual loss. Furthermore, I demonstrate that the risk of having an affected sibling with RRD is increased 2-fold given that one sibling has had the condition, substantiating a genetic component to the pathogenesis of this condition. In the final aspect of this thesis I will present the design and analysis of a two stage case-control genome-wide association study examining the role of common genetic variants and selected candidate genes in predisposing to RRD development.

บรรณานุกรม :
Mitry, Danny . (2556). Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology.
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom .
Mitry, Danny . 2556. "Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology".
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom .
Mitry, Danny . "Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology."
    กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom , 2556. Print.
Mitry, Danny . Primary rhegmatogenous retinal detachment: clinical epidemiology and genetic aetiology. กรุงเทพมหานคร : Edinburgh Research Archive, United Kingdom ; 2556.