CRB1– Associated Retinal Degeneration: Macular Pigment and Lutein Supplementation

Abstract

Abstract: : Purpose: Crumbs homologue 1 (CRB1) mutations are associated with thick, coarsely–laminated retina and severe visual loss. A subset of patients can have relatively preserved central vision. Murine and Drosophila evidence suggests a detrimental effect of light on CRB1–associated retinal degeneration. Seeking means to prevent central visual loss in these patients, we studied their macular pigment (MP) and vision and the response to oral lutein supplementation. Methods: Patients with CRB1 mutations (n=2) and relatively preserved visual acuities (at least 20/50) were included. Both subjects (in the second decade of life) had stable foveal fixation. MP optical density was measured with heterochromatic flicker photometry. MP, serum carotenoids, visual acuity, foveal sensitivity and retinal thickness (by optical coherence tomography, OCT) were quantified at two baseline visits (separated by <1 month) and following supplementation with lutein at 20 mg/day for 6 months. Results: Patients had preserved foveal architecture by OCT but the surrounding retina was abnormally thick and coarsely–laminated. MP density at baseline was within normal limits in one patient and reduced in the second. Foveal thickness was related to MP levels. After supplementation, both patients showed increases in serum lutein and MP density. MP change with supplementation was gradual and varied in magnitude between individuals. Central vision remained unchanged after 6 months of supplementation. Conclusions: MP density was measurable in two patients with CRB1–associated retinal degeneration and could be augmented by supplemental lutein. Central vision was unchanged after 6 months of supplementation. Long–term influences of lutein supplementation on the natural history of this retinal degeneration warrant study.

Keywords: retinal degenerations: hereditary • degenerations/dystrophies • macular pigment