The genetic basis of heritable corneal disease
Research type
Research Study
Full title
An observational study of phenotype/genotype correlations of heritable corneal disease seen at Moorfields Eye Hospital
IRAS ID
230753
Contact name
Stephen Tuft
Contact email
Sponsor organisation
Moorfields Eye Hospital
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Research Summary
The aim of this study is to determine the genetic cause (the genotype) of various forms of inherited diseases of the anterior segment of the eye. This includes a combination of abnormalities of the cornea, conjunctiva, iris or lens. These results will be correlated with the clinical changes observed in affected individuals (the phenotype). This will provide insight into the mechanisms of disease in affected individuals as well as the pathways that control the normal development and structure of the anterior segment of the eye. These studies will be enhanced by laboratory-based investigations of cells cultured from affected individuals who have the gene change of interest. The use of cultured cells allows an assessment of the behaviour of the cells and potential therapeutic options.
Summary of Results
The cornea is the transparent window at the front of the eye. Disease of the cornea can lead to loss of transparency of the cornea, which can result in blindness. Some causes for corneal disease are inherited and caused by changes in the genetic make-up of individuals. These changes can be passed down in families. The purpose of this study was to look at the DNA extracted from blood of patients with inherited corneal disease to identify changes that cause these diseases. Our results have provided insights into the mechanisms of disease for two of the most common inherited corneal disease - keratoconus and Fuchs endothelial corneal dystrophy.
For this study we recruited 378 patients. Three PhDs have been awarded based on the results of this research, and we anticipate several high quality publications will be submitted. The results have been passed on to patient interest groups. Insights from this work has also been the basis for ongoing studies.REC name
London - City & East Research Ethics Committee
REC reference
17/LO/1671
Date of REC Opinion
13 Nov 2017
REC opinion
Further Information Favourable Opinion