SPECTRUM OF ABCR GENE-MUTATIONS IN AUTOSOMAL RECESSIVE MACULAR DYSTROPHIES

Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) ar e autosomal recessive conditions leading to macular degenerations in c hildhood and adulthood, respectively, Recently, mutations of the photo receptor cell-specific ATP binding transporter gene (ABCR) have been r eported in Stargardt disease, Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consi stently led to STGD, Conversely, all mutations identified in FFM were missense mutations affecting uncharged amino acids, These results prov ide the first genotype-phenotype correlations in ABCR gene mutations.