May 2001

The ABCA4 Gene and Age-Related Macular DegenerationInnocence or Guilt by Association

Author Affiliations

Copyright 2001 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2001

Arch Ophthalmol. 2001;119(5):752-753. doi:10.1001/archopht.119.5.752

THE CONTROVERSY regarding the potential role of the ABCA4 gene (formerly ABCR) and age-related macular degeneration (ARMD) began in 1997, when Allikmets et al1 proposed that this gene might account for 16% of ARMD cases based on the initial association study of a subset of ABCA4 alleles. This gene, which has been convincingly shown to be responsible for most cases of autosomal recessive Stargardt disease and more recently for a subset of patients with cone-rod dystrophy and retinitis pigmentosa,2,3 encodes a transmembrane protein that seems to use adenosine triphosphate to actively transport all-trans retinal out of the outer segments of the rod and cone photoreceptors.4,5 Since that initial report, there has been a flurry of studies in which some have attempted to confirm the association of ABCA4 with ARMD, while others have not found evidence of such a relationship.69

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