Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

Abstract excerpt

Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Starga...

Topics

• ATP-Binding Cassette Transporters
• Adult
• Child
• Genes, Recessive
• Humans
• Macular Degeneration
• Mutation
• Rod Cell Outer Segment