Article
Allelic and phenotypic heterogeneity in ABCA4 mutations.
Ophthalmic genetics - 1 Sept 2011
Burke Tomas R, Tsang Stephen H
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.