CMAJ • May 11, 2004; 170 (10). doi:10.1503/cmaj.1040494.
© 2004 Canadian Medical Association or its licensors
All editorial matter in CMAJ represents the opinions of the authors and not necessarily those of the Canadian Medical Association.
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Letters
Correspondance

Genetics and ARMD

Ian M. MacDonald and Matthew A. Lines

Ocular Genetics Laboratory, University of Alberta, Edmonton, Alta.

Thank you for Erica Weir's Public Health article on age-related macular degeneration (ARMD).1 The term for this condition sounds like an apology for our inability to identify a better cause, but in fact genetics plays a large role in a person's predisposition to macular degeneration. Several genes may be associated with macular degeneration, including ABCA4, VMD2, EFEMP1, TIMP3,2 ELOVL43 and CRX.4 However, a search for mutations in these genes in patients with a diagnosis of ARMD has been disappointing, except in the case of ABCA4. Patients who carry mutations in both ABCA4 alleles have an autosomal recessive disorder called Stargardt disease.5 Allikmets6 has shown a significantly higher incidence of mutations in the ABCA4 gene among patients with ARMD than in a control population. These mutations may contribute to the higher risk of vision loss from ARMD among first-degree relatives of patients with the condition, estimated at 4 times the risk for the general population.7

How can ARMD be prevented? As mentioned by Weir, stopping smoking and eating a healthy diet are both important. In particular, eating fish at least twice a week reduces the risk.8 Fish is an excellent source of omega-3 fatty acids, in particular docosahexaenoic acid, the predominant highly unsaturated fatty acid of the retina. With people now living into their 80s, a healthy lifestyle and a healthy diet are important not only for general well- being but also for good vision.

Ian M. MacDonald Matthew A. Lines Ocular Genetics Laboratory University of Alberta Edmonton, Alta.

References

  1. Weir E. Age-related macular degeneration: armed against ARMD. CMAJ 2004;170(4):463-4.[Free Full Text]
  2. Ambati J, Ambati BK, Yoo SH, Ianchulev S, Adamis AP. Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv Ophthalmol 2003;48:257-93.[CrossRef][Medline]
  3. Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 2001; 27: 89-93.[Medline]
  4. Lines MA, Hebert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. Ophthalmology 2002;109:1862-70.[CrossRef][Medline]
  5. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [published erratum appears in Nat Genet 1997;17(1):122]. Nat Genet 1997;15 (3):236-46.[Medline]
  6. Allikmets R. Simple and complex ABCR: genetic predisposition to retinal disease. Am J Hum Genet 2000;67:793-9.[CrossRef][Medline]
  7. Klaver CCW, Wolfs RCW, Assink JJM, van Duijin CM, Hofman A, de Jong PTVM. Genetic risk of age-related maculopathy. Population-based familial aggregation study. Arch Ophthalmol 1998;116:1646-51.[Abstract/Free Full Text]
  8. Cho E, Hung A, Willet WC, Spiegelman D, Rimm EB, Seddon JM, et al. Prospective study of dietary fat and the risk of age-related macular degeneration. Am J Clin Nutr 2001;73:209-18. [Abstract/Free Full Text]




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