title: Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
abstract: OBJECTIVE
  To determine macular pigment (MP) optical density (OD) in patients with ABCA4-associated retinal degenerations (ABCA4-RD) and the response of MP and vision to supplementation with lutein.
  
  
  METHODS
  Patients with Stargardt disease or cone-rod dystrophy and known or suspected disease-causing mutations in the ABCA4 gene were included. All patients had foveal fixation. MPOD profiles were measured with heterochromatic flicker photometry. Serum carotenoids, visual acuity, foveal sensitivity, and retinal thickness were quantified. Changes in MPOD and central vision were determined in a subset of patients receiving oral supplementation with lutein for 6 months.
  
  
  RESULTS
  MPOD in patients ranged from normal to markedly abnormal. As a group, patients with ABCA4-RD had reduced foveal MPOD, and there was a strong correlation with retinal thickness. Average foveal tissue concentration of MP, estimated by dividing MPOD by retinal thickness, was normal in patients, whereas serum concentration of lutein and zeaxanthin was significantly lower than normal. After oral lutein supplementation for 6 months, 91% of the patients showed significant increases in serum lutein, and 63% of the patients' eyes showed a significant augmentation in MPOD. The retinal responders tended to be female and to have lower serum lutein and zeaxanthin, lower MPOD, and greater retinal thickness at baseline. Responding eyes had significantly lower baseline MP concentration than did nonresponding eyes. Central vision was unchanged after the period of supplementation.
  
  
  CONCLUSIONS
  MP is strongly affected by the stage of ABCA4 disease leading to abnormal foveal architecture. MP could be augmented by supplemental lutein in some patients. There was no change in central vision after 6 months of lutein supplementation. Long-term influences of this supplement on the natural history of these macular degenerations require further study.
authors.affiliation: Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. aleman@mail.med.upenn.edu
authors.forename: Tomas S
authors.initials: TS
authors.lastname: Aleman
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.forename: Elizabeth A M
authors.initials: EA
authors.lastname: Windsor
authors.forename: Sharon B
authors.initials: SB
authors.lastname: Schwartz
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Swider
authors.forename: John D
authors.initials: JD
authors.lastname: Chico
authors.forename: Alexander
authors.initials: A
authors.lastname: Sumaroka
authors.forename: Alexander Y
authors.initials: AY
authors.lastname: Pantelyat
authors.forename: Keith G
authors.initials: KG
authors.lastname: Duncan
authors.forename: Leigh M
authors.initials: LM
authors.lastname: Gardner
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Emmons
authors.forename: Janet D
authors.initials: JD
authors.lastname: Steinberg
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D014975:Lutein / Q000008:administration & dosage* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D010783:Photometry; D010865:Pilot Projects; D012160:Retina / Q000378:metabolism* / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism*; D012168:Retinal Pigments / Q000378:metabolism*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000187:drug effects; D024341:Xanthophylls / Q000378:metabolism*; D065146:Zeaxanthins; D019207:beta Carotene / Q000097:blood
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D012168:Retinal Pigments; D024341:Xanthophylls; D065146:Zeaxanthins; D019207:beta Carotene; D014975:Lutein