Evaluation of the bestrophin gene as a candidate gene in familial and sporadic cases of age � related macular degeneration

Abstract

Age-related macular degeneration (ARMD) is the leading cause of blindness in the elderly. A population-based segregation study as well as various twin studies suggest a role for genetic factors. Since ARMD shares some ocular phenotypic features with Best disease, we hypothesized that the Best disease gene may be involved in some cases of ARMD. In this report we have tested this possibility in two familial and two sporadic cases of ARMD. Our analysis failed to identify any disease-causing or polymorphic changes in the bestrophin gene. This, however, does not completely exclude the bestrophin gene as a candidate gene, because mutations in the distal promoter region as well as within the intron-branch site cannot be ruled out. The above results indicate that the structural and functional changes in the bestrophin gene are not the major factors associated with disease phenotype of ARMD in the families analyzed.