Macular pigment and lutein supplementation in choroideremia.
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.
Duncan
Jacque L
JL
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Aleman
Tomas S
TS
Gardner
Leigh M
LM
De Castro
Elaine
E
Marks
Daniel A
DA
Emmons
Jessica M
JM
Bieber
Michelle L
ML
Steinberg
Janet D
JD
Bennett
Jean
J
Stone
Edwin M
EM
MacDonald
Ian M
IM
Cideciyan
Artur V
AV
Maguire
Maureen G
MG
Jacobson
Samuel G
SG
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
D012168:Retinal Pigments; D014975:Lutein