Work

Allelic and phenotypic heterogeneity inABCA4mutations

Year: 2011

Type: review

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.

Source: Ophthalmic Genetics

DOI: 10.3109/13816810.2011.565397

Authors: Tomas R. Burke, Stephen H. Tsang

Institutions: Columbia University, Columbia University Irving Medical Center

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Wellcome Trust, National Eye Institute