Abstract
Purpose: :
Exudative AMD is phenotypically heterogeneous, including different subtypes of choroidal neovascularisation (CNV), defined by angiographic criteria, such as classic CNV, predominantly classic CNV, occult CNV, minimally classic CNV, polypoidal choroidal vasculopathy, or retinal angiomatosis proliferation. Our purpose was to establish a large DNA bank of patients affected with exudative AMD, with phenotype based on fluorescein angiography.
Methods: :
A total of 1229 patients were recruited in four retinal departments in France in 20 months (Centre Hospitalier Intercommunal at Créteil, Centre d'Imagerie et de Laser at Paris, hospital Quinze-Vingts at Paris, CHU Pellegrin at Bordeaux). Mean age was 79,5 y.o and sex-ratio was 0.33. For each patient were recorded a questionnaire, demographic data, serum, DNA, fundus pictures and fluorescein angiography. We first analyzed the main polymorphisms involved in AMD (CFH and LOC387715 genes).
Results: :
Here is the repartition of our population for both CFH and Loc387715 polymorphisms.
Conclusions: :
The specificity of our large population constituting our DNA bank is a phenotype classification based on fluorescein angiography. Our strategy allows phenotype-genotype correlations on exudative AMD. Our perspective are to analyze interactions with other polymorphisms (ApoE, C3, CX3CR1, ..) and with environmental factors. On the other had, we are looking for new polymorphisms involved in AMD in individuals wtwt for both CFH and LOC387715 polymorphisms. Recruitment of healthy controls is on process.
Keywords: age-related macular degeneration • genetics • candidate gene analysis