Brief Lay Background
Keratoconus (KC) is a common cause of visual disability, affecting teenagers and young adults at an age when impaired vision has a maximal effect on quality of life, education and employment opportunities. It affects at least 26,000 people in the UK.
The disease affects the cornea, the outermost transparent layer of the eye. In keratoconus, the cornea becomes progressively thinned and changes shape, and vision deteriorates. It can be a major challenge to diagnose KC at an early stage before visual deterioration has occurred. If the disease is not detected early and treated it can result in functional blindness or patients may require a cornea transplantation.
What problem/knowledge gap does it help address?
It can be challenging to identify KC before there is visual loss. It is necessary to improve on this to preserve the vision of affected individuals. We currently understand very little about the causes of KC and this lack of knowledge has hampered diagnosis.
Aim of the research project
To identify genetic risk factors for KC and understand the mechanisms which cause the cornea to change shape. Our goal is to improve identification of individuals at risk of KC who could benefit from early intervention and provide a knowledge base for the future development of new treatments.
Potential impact on people with sight loss
Identification of the genetic risk factors will enable the development of a genetic test to identify individuals at risk of KC, who could benefit from early intervention to stop progression, prevent significant visual loss and reduce requirement for corneal transplantation. It could also enable the identification of susceptible individuals in whom laser eye surgery can trigger the development of KC. In the longer term, knowledge of the genes involved in KC and how they lead to corneal distortion, could lead to the development of new treatments.
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