Fine mapping and positional cloning of an X linked congenital nystagmus gene

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Congenital Idiopathic Nystagmus (CIN) causes rapid, involuntary, eye movements. It causes a significant visual problem and affects approximately 1 in 350 children. However, despite years of study, and the identification of one causative gene, the its pathogenesis is unknow. We have collected a large number of DNA samples and clinical details from patients with various forms of nystagmus which provides more chance than ever before of locating new genes for nystagmus and discovering how these genes function in health and can malfunction to cause nystagmus. Assesing the contribution of these genes to certain forms of nystagmus will instantly help some CIN children by allowing a simple genetic test and thus avoiding numerous invasive investigations. Furthermore, molecular biological techniques are being used to understand how the defective genes lead to uncontrolled eye movements. This knowledge will provide the first glimpses of the process underlying nystagmus but also may have relevance to many other ophthalmic and neurological diseases. It is hoped that this information will then lead to the design of novel therapies for these conditions.