Docosahexaenoic acid supplementation in a family with a mutation in ELOVL4

Abstract

Abstract: : Purpose: To test the effect of docosahexaenoic acid (DHA) supplementation on retinal function in patients with a mutation in ELOVL4 Methods: A non–random, unmasked trial of DHA supplementation was conducted in 7 patients from 1 family with autosomal dominant Stargardt–like macular dystrophy and a mutation in ELOVL4. Each patient was provided with a supplement of DHA (20mg/kg/day). Primary outcomes of the trial were: VF14 score, Snellen visual acuity, and the foveal and parafoveal responses of the (61 hexagons) multifocal electroretinogram (mfERG). Nutritional surveys were completed and serum plasma DHA was measured to monitor compliance at each visit. Results: Seven subjects received DHA over 3 months and six subjects received a further 3 months of DHA supplementation. A threefold increase in serum DHA was measured. Five of the seven patients reported a subjective improvement in vision as measured by the VF14 score. The average responses of the mfERG from both eyes, from the fovea (0–5 degrees) and parafoveal (5–10 degrees) regions, improved in four patients, showed no change in one and declined in two. There was, however, no consistent change in the VF14 score or visual acuity in response to supplementation. The average P1 amplitude change of the mfERG from the fovea and parafovea after supplementation was not significant. Conclusions: Given the improvements found in some of the patients, a large cohort in a masked, randomized, controlled trial is necessary to determine if DHA supplementation can truly alter macular function in these patients.

Keywords: electroretinography: clinical • nutritional factors • retinal degenerations: hereditary