Investigating the genetic basis of pseudoexfoliation syndrome
Research type
Research Study
Full title
Investigating the genetic basis of pseudoexfoliation syndrome
IRAS ID
185759
Contact name
Andrew Tatham
Contact email
Sponsor organisation
NHS Lothian Research and Development
Duration of Study in the UK
1 years, 11 months, 30 days
Research summary
Pseudoexfoliation syndrome (PXF) is an age–related systemic disease manifesting primarily in the eyes, characterized by the accumulation of microscopic granular amyloid-like protein fibers. Although the cause of PXF is unknown, there is very strong suspicion for a significant genetic contribution. It is more prevalent in women than men, and in persons past the age of seventy. Its prevalence in different human populations varies; for example, it is prevalent in Japan and some European countries, but considerably rarer in Chinese. The buildup of protein clumps due to PXF can block normal drainage of the eye fluid called the aqueous humor and can cause, in turn, a buildup of pressure leading to glaucoma and loss of vision. We aim to identify susceptibility genes/loci for PXF.
REC name
South East Scotland REC 02
REC reference
15/SS/0191
Date of REC Opinion
29 Oct 2015
REC opinion
Favourable Opinion