Although retinal detachment contributes nearly 500 new blind registrations in the UK each year, in contrast to many other sight-threatening retinal disorders, sight loss from retinal detachment is potentially avoidable with a better understanding of the mechanisms putting individual patients at high risk. It is a popular public misconception that most retinal detachment is the result of trauma. In fact this is rarely the case.
Our research programme is directed at investigating the cellular and molecular mechanisms underlying retinal detachment so that more effective strategies for prevention can be developed. Much of our background research has been focussed on a genetic connective tissue disorder with a very high risk of retinal detachment. Initially considered a monogenic disorder, Stickler syndrome is now known to comprise least 6 different sub-groups and we are investigating the relative risks of detachment between these together with studies on prophylaxis to reduce the risk of blindness in the high risk variants. In 2011 we were commissioned to provide a national diagnostic service for patients and families with Stickler syndrome.
In addition, by investigating large cohorts of patients with isolated or non-syndromic retinal detachment, we have also identified two potential genetic loci where irregular pre-mRNA splicing potentially appears to influence their risk of retinal detachment. Our current work is focussed on investigating the exact DNA changes involved in irregular pre-mRNA processing by cloning different study alleles as minigenes into expression vectors for use as splicing reporters. We are also investigating the cellular differences between physiological and pathological posterior vitreous detachment and thereby its influences on vitreoretinal pathology in general and and retinal detachment in particular.
|Martin Snead||Consultant Vitreoretinal Surgeon, Director of Research|
|Allan Richards PhD||Assistant Director of Research|
|Arabella Poulson||Consultant Vitreoretinal Surgeon|
|Annie McNinch SRN||Stickler Specialist Research Nurse|
|David Hill||Laboratory Technical Support|
|Carl Spickett PhD||Research Scientist|
|Greg Fincham||Vitreoretinal Research Fellow|
Retinal detachment - what your granny taught you or what your granny gave you?
Many genes in the human body are read or "spliced" in different ways by different cells. This ingenious mechanism allows a single gene to produce a variety of subtly different types of protein in different cells according to the varying and individual needs of the different tissues in the body. As an example, some of the genes in the eye are also expressed (differently) in the ear, human cartilage and joints and is one reason why retinal detachment, deafness and arthritis can be associated with each other if these genes are affected.
In November 2013 in collaboration with colleagues from London and Devon we identified and reported a new genetic cause of retinal detachment associated with total deafness and arthropathy. In addition by recruiting several hundred patients with retinal detachment from across the UK we have identified and reported the first example of gene "mis-splicing" as a cause of retinal detachment in the general population.