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

Allelic and phenotypic heterogeneity in ABCA4 mutations.

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1
Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York 10032, USA.

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.

PMID:
21510770
PMCID:
PMC3155666
DOI:
10.3109/13816810.2011.565397
[Indexed for MEDLINE]
Free PMC Article
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