Studying the retina in brittle cornea syndrome
Research type
Research Study
Full title
Investigation of a retinal phenotype in brittle cornea syndrome
IRAS ID
168165
Contact name
Louise F Porter
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
0 years, 3 months, 30 days
Research summary
This application relates to a study on the inherited eye disease brittle cornea syndrome (BCS). BCS is a rare disease in which patients have very thin and fragile corneas (the window on the front of the eye) causing them to rupture easily, leading to blindness. Patients are also often short-sighted (myopic). BCS is caused by DNA mutations in two genes important in making the structural proteins in the cornea. We have focused our studies on examining the eyes of patients with BCS using microscopic techniques to try to understand why they are so fragile. For this work we had the written agreement of the patients, and NHS research ethics committee approval (11/NW/0344). We looked at collagens and other proteins that make up eye tissue. We also studied the retina (photographic plate at the back of the eye) to document whether there are any abnormalities that could also impair the vision of affected individuals. In doing so, we identified abnormalities in the retinas of patients. These abnormalities are not present in the eyes of unaffected people studied as control subjects, with their consent. However we need to add additional samples to the study that do not have consent, because we need to be certain that the abnormalities observed are related to BCS, and not to the corneal rupture or high myopia often also present. Therefore we need to carry out one extra experiment studying 3 additional control samples (the retinas of two individuals who have suffered a ruptured cornea because of trauma and the retina of one individual who is very short-sighted). Eye tissue from healthy individuals who have suffered a traumatic corneal perforation or are highly myopic is available in the department of histopathology, but has not been consented for research purposes, hence the purpose of this application.
REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
14/NW/1495
Date of REC Opinion
9 Dec 2014
REC opinion
Favourable Opinion