title: A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
abstract: OBJECTIVE
  To report the ophthalmologic features of a novel truncating mutation in the ABCR gene in a patient affected with late-onset fundus flavimaculatus (FFM).
  
  
  METHODS
  A complete ophthalmologic examination was performed in a 70-year-old patient, including best-corrected visual acuity measurement, slit lamp and fundus examination, fundus photographs, frequent fluorescein and indocyanine green angiographies, visual field testing, color vision analysis, electroretinogram, and electro-oculogram. The 50 exons of the ABCR gene were analyzed using direct sequencing.
  
  
  RESULTS
  Fluorescein and indocyanine green angiographies confirmed the diagnosis of FFM. A heterozygous base change was found, resulting in the substitution of an arginine to a stop at codon 152 of the ABCR gene.
  
  
  CONCLUSIONS
  A heterozygous nonsense ABCR gene mutation was found in a patient affected with FFM. No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: E H
authors.initials: EH
authors.lastname: Souied
authors.forename: D
authors.initials: D
authors.lastname: Ducroq
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: I
authors.initials: I
authors.lastname: Perrault
authors.forename: M
authors.initials: M
authors.lastname: Sterkers
authors.forename: N
authors.initials: N
authors.lastname: Benhamou
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: G
authors.initials: G
authors.lastname: Coscas
authors.forename: G
authors.initials: G
authors.lastname: Soubrane
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D017668:Age of Onset; D000368:Aged; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007208:Indocyanine Green; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012374:Rod Cell Outer Segment / Q000473:pathology*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D018388:Codon, Terminator; D017931:DNA Primers; D007208:Indocyanine Green