H00-H59 Diseases of the eye and adnexa
One study in Diseases of the eye and adnexa is accessible to registered UDBN website users.
UDBN partners:
Dr Andrew Webster (Institute of Opthalmology London)
Prof Shomi Bhattacharya (Institute of Opthalmology London)
Age-related macular degeneration (AMD) is the leading cause of blindness in the UK for over 50% of blind registration, and is estimated to affect over 3 million people in the UK alone (Rubin et al 1997). Sufferers lose the ability to use accurate central vision and require extensive assistance placing a large burden on relatives, social services and health resources. There is no proven effective treatment or preventive measures. The microscopic abnormalities that precede and produce visual loss can be examined non-invasively in the clinic making this disease, easy to characterise accurately clinically when compared with other common systemic conditions.
Extensive epidemiological studies of AMD have not produced firm evidence of significant environmental risk factors although there is a strong suspicion that such factors exist. However, high concordance rates in twin studies and relative risks of between 2-9 in sibship studies demonstrate an important genetic role in the pathogenesis of the disorder. Linkage studies of inherited macular disorders, retinal cell biology research and genome scans on affected sib-pairs are generating numerous candidate genes for AMD susceptibility.
The determination of susceptibility disease genes offers the greatest hope for further understanding of the disease, and the development of effective preventive measures and interventional treatments. In order to be able to assess accurately the involvement of specific genes and combinations of genes, we propose a structured collection of clinical data and DNA over a three year period of 2400 cases with AMD.ARM (age related maculopathy) and 600 age-matched controls without AMD in the UK population.
The large throughput of patients at Moorfields Eye Hospital (MEH), the experience and technology available to characterise carefully the phenotype of AMD and the logistic advantages of both units being on the same site make MEH and the Institute ideal to base such a collection. We envisage that such a resource will be invaluable throughout the country and abroad interested in determining the genetic basis of this common, blinding and untreatable condition, and would compliment studies already underway and proposed.
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