A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

Invest Ophthalmol Vis Sci. 1999 Oct;40(11):2740-4.


Purpose: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Age of Onset
  • Aged
  • Codon, Terminator / genetics
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Indocyanine Green
  • Macular Degeneration / diagnosis
  • Macular Degeneration / genetics*
  • Male
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Rod Cell Outer Segment / pathology*


  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Codon, Terminator
  • DNA Primers
  • Indocyanine Green