Targeting rare diseases in children

Blindness in Children

This research was completed on 28 March 2008

Project LeaderDr M E Cheetham PhD and Dr J van der Spuy PhD
LocationInstitute of Ophthalmology, University College London
Grant awarded29 October 2004
Start date29 March 2005
End date28 March 2008
Grant amount£125,591.00
Grant codeSP4014

Leber congenital amaurosis (LCA) is an inherited disease causing total blindness or greatly impaired vision from birth. The causes of LCA are not well understood and there are currently no treatments for this condition. Babies born with LCA have little or no sight and the sight that they have will deteriorate further over time. To develop effective treatments we need to understand the molecular basis of why these children are blind. This project aims to understand LCA through studying one of the disease causing proteins and identifying the other proteins that it interacts with. This will help us move towards therapy for this form of blindness and will enhance understanding of how the eye works and develops. This research will therefore have a broader relevance to other forms of blindness.