September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Long-term Follow-up of Autosomal Dominant Stargardt Macular Dystrophy (STGD3) Subjects Enrolled in a Fish Oil Supplement Interventional Trial
Author Affiliations & Notes
  • Rene Choi
    Ophthalmology, Moran Eye Center - University of Utah, Salt Lake City, Utah, United States
  • Aruna Gorusupudi
    Ophthalmology, Moran Eye Center - University of Utah, Salt Lake City, Utah, United States
  • Paul S Bernstein
    Ophthalmology, Moran Eye Center - University of Utah, Salt Lake City, Utah, United States
  • Footnotes
    Commercial Relationships   Rene Choi, None; Aruna Gorusupudi, None; Paul Bernstein, None
  • Footnotes
    Support  Research to Prevent Blindness
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 6593. doi:
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      Rene Choi, Aruna Gorusupudi, Paul S Bernstein; Long-term Follow-up of Autosomal Dominant Stargardt Macular Dystrophy (STGD3) Subjects Enrolled in a Fish Oil Supplement Interventional Trial. Invest. Ophthalmol. Vis. Sci. 2016;57(12):6593.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Autosomal dominant Stargardt macular dystrophy (STGD3) is a rare form of Stargardt disease secondary to mutations in the ELOVL4 gene. Mutations in ELOVL4 disrupt the pathways of synthesis of very-long chain polyunsaturated fatty acids (VLC-PUFAs) from eicosapentaenoic acid (EPA) and arachidonic acid (AA). We have previously reported that members of a large Utah family with a two base-pair deletion in ELOVL4 who regularly consume fish have a much milder phenotype than those who rarely eat fish. Based on this observation, we asked whether fish oil supplementation could slow the course of STGD3.

Methods : We enrolled 11 Utah STGD3 patients in a 7-year open-label, clinical interventional study of over-the-counter fish oil supplements at a recommended dose of 650 mg of EPA and 350 mg of DHA per day (NCT00420602). Subjects had annual eye examinations with complete imaging, visual function testing, multi-focal electroretinograms, and blood lipid analyses.

Results : Compliance with the recommended fish oil supplement intervention was quite variable as assessed by patient self-report and by serum and red blood cell biomarkers of lipid consumption. Thus, even without randomization, we could divide the subjects into high supplementation and low supplementation groups. All subjects showed progression of their maculopathy over the course of the study, and we could not discern a beneficial effect of the intervention.

Conclusions : Our inability to detect a benefit of fish oil supplementation in our cohort of STGD3 patients could be the result of small subject numbers or of intervention too late in the course of the disease. We still advise STGD3 patients to consume fish or fish oil regularly, and we recommend that pre-symptomatic children with ELOVL4 mutations should be especially targeted for these interventions.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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