title: Allelic and phenotypic heterogeneity in ABCA4 mutations.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York 10032, USA.
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Burke
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000483:Alleles; D003937:Diagnosis, Differential; D004596:Electroretinography; D005451:Fluorescein Angiography; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters