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T.S. Aleman, A.V. Cideciyan, E.A. M. Windsor, S.B. Schwartz, L.M. Gardner, J.M. Emmons, K.G. Duncan, J.D. Steinberg, E.M. Stone, S.G. Jacobson; Macular Pigment in ABCA4–Associated Retinal Degenerations: Response to Lutein Supplementation . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5810.
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To determine macular pigment optical density (MPOD) in patients with ABCA4–associated retinal degenerations (ABCA4–RD) and the response of MP and vision to supplementation with lutein.
Patients with disease–causing mutations in the ABCA4 gene and documented foveal fixation had MPOD profiles measured with heterochromatic flicker photometry at 0.17°, 0.5°, 1° and 2° eccentricities. Serum carotenoids, foveal sensitivity, visual acuity, and retinal thickness (by OCT) were quantified. In a subset of patients, the effects on MP and central vision of 6 months of lutein supplementation at 20 mg/day were determined.
Foveal (0.17°, 0.5°) MPOD could be reproducibly measured in all ABCA4–RD patients; parafoveal (1°, 2°) MPOD could be measured only in a subset of less affected patients. MPOD ranged from undetectable to normal; mean MPOD was lower in ABCA4–RD patients compared to normals. Patients with lower serum carotenoid levels and more severe disease expression tended to have lower MPOD. Inner retinal thickness by OCT was positively correlated with MP density in the patients. After supplementation, most participants showed increases in serum lutein but less than half of the patients showed a statistically significant increase in MPOD. Retinal non–responders had slightly greater disease severity but were otherwise not distinguishable from responders. Central vision remained unchanged 6 months post–supplementation.
As a group, patients with ABCA4–RD showed lower MPOD than normals. MP in patients may be affected by the severity of their macular disease, especially that leading to abnormal foveal architecture. MP of only some patients could be augmented by supplemental lutein. There was no change in central vision in retinal responders or non–responders after 6 months of lutein supplementation. Long–term influences on the natural history of these retinal degenerations are under investigation.
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