title: Macular pigment and lutein supplementation in choroideremia.
abstract: Choroideremia is an incurable X-linked retinal degeneration caused by mutations in the gene encoding Rab escort protein-1. A group of clinically defined and genotyped patients were studied to determine: (1) the degree of rod and cone dysfunction and structural abnormality in the central retina and the level of macular pigment; and (2) the response of macular pigment and foveal vision to a 6 month trial of supplementation with oral lutein (at 20 mg per day). Rod and cone-mediated function was measured with dark-adapted static perimetry; in vivo retinal structure was determined with optical coherence tomography; and macular pigment optical density was measured with heterochromatic flicker photometry. In this cohort of patients (ages 15-65 years), both rod- and cone-mediated central function declined with age as did central retinal thickness. Macular pigment levels did not differ between patients and male control subjects. Supplementation of oral lutein in a subset of patients led to an increase in serum lutein and macular pigment levels; absolute foveal sensitivity did not change. It is concluded that macular pigment density can be augmented by oral intake of lutein in patients with choroideremia. There was no short-term change in the central vision of the patients on the supplement, but long-term influences of lutein supplementation on disease natural history warrant further study.
authors.affiliation: Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors.forename: Jacque L
authors.initials: JL
authors.lastname: Duncan
authors.forename: Tomas S
authors.initials: TS
authors.lastname: Aleman
authors.forename: Leigh M
authors.initials: LM
authors.lastname: Gardner
authors.forename: Elaine
authors.initials: E
authors.lastname: De Castro
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Marks
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Emmons
authors.forename: Michelle L
authors.initials: ML
authors.lastname: Bieber
authors.forename: Janet D
authors.initials: JD
authors.lastname: Steinberg
authors.forename: Jean
authors.initials: J
authors.lastname: Bennett
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.forename: Maureen G
authors.initials: MG
authors.lastname: Maguire
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging / Q000502:physiology; D015794:Choroideremia / Q000188:drug therapy* / Q000378:metabolism / Q000503:physiopathology; D019587:Dietary Supplements; D005500:Follow-Up Studies; D006801:Humans; D014975:Lutein / Q000627:therapeutic use*; D008266:Macula Lutea / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology; D012168:Retinal Pigments / Q000378:metabolism*; D014792:Visual Acuity; D058609:Visual Field Tests
chemical_list: D012168:Retinal Pigments; D014975:Lutein