Genetics and Molecular Pathology of Central Serous Chorioretinopathy

  • Research type

    Research Study

  • Full title

    Genetics and Molecular Pathology of Central Serous Chorioretinopathy

  • IRAS ID

    237173

  • Contact name

    Andrew Lotery

  • Contact email

    andrew.lotery@uhs.nhs.uk

  • Sponsor organisation

    Southampton General Hospital

  • Clinicaltrials.gov Identifier

    1, Dong Yang & Dean Eliott (2017) Systemic Mineralocorticoid Antagonists in the Treatment of Central Serous Chorioretinopathy, Seminars in Ophthalmology, 32:1, 36-42, DOI: 10.1080/08820538.2016.1228418; 2, Wang M et al. Central serous chorioretinopathy. Acta ophthalmologica. Mar 2008;86(2):126-145; 3, Liew G et al. Central serous chorioretinopathy: a review of epidemiology and pathophysiology. Clinical & experimental ophthalmology. Mar 2013;41(2):201-214.; 4, De Jong EK et al. Chronic Central Serous Chorioretinopathy Is Associated with Genetic Variants Implicated in Age-Related Macular Degeneration. Ophthalmology. Nov 6 2014. ; 5, Miki A et al. Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy. Ophthalmology. May 2014;121(5):1067-1072.; 6, Horie-Inoue K, Inoue S. Genomic aspects of age-related macular degeneration. Biochemical and biophysical research communications. Sep 19 2014;452(2):263-275.; 7, Bouzas EA et al. Central serous chorioretinopathy and glucocorticoids. Survey of ophthalmology. Sep-Oct 2002;47(5):431-448; 8, Weenink A, C, Borsje R, A, Oosterhuis J, A, Familial Chronic Central Serous Chorioretinopathy. Ophthalmologica 2001;215:183-187

  • Duration of Study in the UK

    5 years, 0 months, 1 days

  • Research summary

    Degenerative eye disease affects over 10 million people in Europe alone. Central Serous Chorioretinopathy (CSC), is a common cause of eye disease in the Western World amongst those of working age (1). It affects the retinal tissue in the back of the eye in an area known as the macula. There are two forms of CSC, acute and chronic. Acute CSC is the more prevalent form of the disease, however approximately 50% go on to develop chronic disease leading to a significant impairment of central vision (2,3). The cause of the disease however, is currently unknown and consequently there are limited treatment options available. Chronic CSC shows clinical similarities with age-related macular degeneration (AMD): a progressive chronic disease of the central retina. Genetic changes have been associated with both AMD and chronic CSC suggesting genetic and pathophysiologic overlap between these two conditions (4,5,6).

    In this study, we want to examine genes in a large number of patients with CSC and in healthy controls to test for a correlation between disease status and genetic variation.
    We will analyse the DNA, plasma and serum of patients with CSC to evaluate those genes that are different between them and controls, enabling us to determine what changes might contribute to disease causation.
    Exploring the genetic and molecular basis of CSC will provide new insights into the pathogenesis of this important retinal condition as well as furthering our understanding of related retinopathies such as AMD.

  • REC name

    North West - Liverpool Central Research Ethics Committee

  • REC reference

    18/NW/0116

  • Date of REC Opinion

    19 Apr 2018

  • REC opinion

    Further Information Favourable Opinion