Analysis of the Arg345Trp disease-associated allele of the EFEMPI gene in individuals with early onset drusen or familial age-related macular degeneration

Abstract

Background: A single base change within the EFEMPI gene has been associated with malattia leventinese and Doyne honeycomb retinal dystrophy, two dominantly inherited macular diseases with early onset drusen. The aim of this study was to determine whether the same disease allele was also associated with other forms of early onset drusen or familial cases of age-related macular degeneration. Methods: Thirteen index cases of early onset drusen together with 15 other family members were examined. In addition, 54 familial cases of age-related macular degeneration were examined. Blood was taken for DNA analysis and screened for the Arg345Trp disease-associated allele of the EFEMPI gene. Twenty-fou..