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  • Effect of docosahexaenoic acid supplementation on retinal function in a patient with autosomal dominant Stargardt-like retinal dystrophy

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Effect of docosahexaenoic acid supplementation on retinal function in a patient with autosomal dominant Stargardt-like retinal dystrophy
  1. I M MacDonald,
  2. M Hébert,
  3. R J Yau,
  4. S Flynn,
  5. J Jumpsen,
  6. M Suh,
  7. M T Clandinin
  1. Departments of Ophthalmology and Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada; and the Department of Ophthalmology (MH), Medical Research Centre, CHUQ, Laval University, Québec City, Québec, Canada
  1. Correspondence to: Dr Ian M MacDonald Department of Ophthalmology, Royal Alexandra Hospital, 10240 Kingsway Ave., Edmonton, Alberta, Canada T5H 3V9; macdonalualberta.ca

https://doi.org/10.1136/bjo.2003.024299

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    The gene, ELOVL4, is mutated in Stargardt-like macular dystrophy, a juvenile onset disorder. ELOVL4 is homologous to a fatty acid elongase presumably involved in the biosynthesis of docosahexaenoic acid, DHA.1 Humans can synthesise DHA from precursors in small amounts, which may not be sufficient for normal retinal function if intake is minimal.2

    Case report

    A 15 year old girl with Stargardt-like macular dystrophy and a mutation in ELOVL4 was given a dietary supplement of DHA on two occasions. A 7 day dietary history, prior to starting DHA supplementation, estimated her daily intake of DHA as 20 mg, in a diet of 1602 kcal. Beginning in April 2001, she was supplemented with 20 mg/kg body weight per day of DHA in capsules (Martek BioSciences, Columbia, MD, USA). Her functional response was determined by a VF-14 questionnaire,3 visual acuity testing, multifocal electroretinography (mfERG), and …

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