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The ABCA4 Gene and Age-Related Macular Degeneration
Innocence or Guilt by Association
Arch Ophthalmol. 2001;119:752-753.
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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.6-9
The article by Guymer et al10 in this
issue of . . . [Full Text of this Article]
RELATED ARTICLE
Variation of Codons 1961 and 2177 of the Stargardt Disease Gene Is Not Associated With Age-Related Macular Degeneration
Robyn H. Guymer, Elise Héon, Andrew J. Lotery, Francis L. Munier, Daniel F. Schorderet, Paul N. Baird, Robyn J. McNeil, Heidi Haines, Val C. Sheffield, and Edwin M. Stone
Arch Ophthalmol. 2001;119(5):745-751.
ABSTRACT
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Detailed Analysis of Allelic Variation in the ABCA4 Gene in Age-Related Maculopathy
Schmidt et al.
IOVS 2003;44:2868-2875.
ABSTRACT
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