Allelic and phenotypic heterogeneity in ABCA4 mutations

Ophthalmic Genet. 2011 Sep;32(3):165-74. doi: 10.3109/13816810.2011.565397. Epub 2011 Apr 21.


Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Important differential diagnoses are presented and unusual presentations of ABCA4 disease highlighted.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Alleles
  • Diagnosis, Differential
  • Electroretinography
  • Fluorescein Angiography
  • Genetic Heterogeneity*
  • Humans
  • Mutation*
  • Phenotype
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Tomography, Optical Coherence
  • Visual Field Tests


  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters