Allelic and phenotypic heterogeneity in ABCA4 mutations
TR Burke, SH Tsang - Ophthalmic genetics, 2011 - Taylor & Francis
TR Burke, SH Tsang
Ophthalmic genetics, 2011•Taylor & FrancisSince 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.
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.
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.
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