title: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
abstract: Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is associated both with environmental factors such as smoking and with genetic factors. Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary form of macular dystrophy. Thirteen different AMD-associated alterations, both deletions and amino acid substitutions, were found in one allele of ABCR in 26 patients (16%). Identification of ABCR alterations will permit presymptomatic testing of high-risk individuals and may lead to earlier diagnosis of AMD and to new strategies for prevention and therapy.
authors.affiliation: Intramural Research Support Program, SAIC-Frederick, NCI-Frederick Cancer Research and Development Center, Frederick, MD 21702, USA.
authors.forename: R
authors.initials: R
authors.lastname: Allikmets
authors.forename: N F
authors.initials: NF
authors.lastname: Shroyer
authors.forename: N
authors.initials: N
authors.lastname: Singh
authors.forename: J M
authors.initials: JM
authors.lastname: Seddon
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: P S
authors.initials: PS
authors.lastname: Bernstein
authors.forename: A
authors.initials: A
authors.lastname: Peiffer
authors.forename: N A
authors.initials: NA
authors.lastname: Zabriskie
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: A
authors.initials: A
authors.lastname: Hutchinson
authors.forename: M
authors.initials: M
authors.lastname: Dean
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: M
authors.initials: M
authors.lastname: Leppert
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008268:Macular Degeneration / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology; D015593:Retinal Drusen / Q000473:pathology; D017384:Sequence Deletion
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters