Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum
- 1Department of Ophthalmology, Doheny Retina Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
- 2Department of Ophthalmology, Children’s Hospital of Los Angeles, Los Angeles, California, USA
- 3Department of Ophthalmology, University of California, San Francisco, San Francisco, California, USA
- Correspondence to Dr J M Stewart, University of California, San Francisco, 10 Koret Way, K301, San Francisco, CA 94143-0730, USA; stewartj{at}vision.ucsf.edu
- Accepted 26 May 2009
- Published Online First 26 July 2009
Abstract
Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as well as review the range of ophthalmic manifestations.
Methods: Retrospective review of clinical records of patients with AS.
Results: Nine patients with AS were identified, of whom three had no eye findings, four showed classic features of AS, and two had new findings, bull’s eye and vitelliform maculopathy. The genetic mutation responsible for the disease in the patient with vitelliform subretinal deposits was identified.
Conclusions: Patients with AS can present with a variety of ophthalmic manifestations. Bull’s eye maculopathy and vitelliform deposits can be features of AS. The mechanism of these new macular findings remains unknown. Possible pathophysiological overlap with other maculopathies including age-related macular degeneration is discussed.
Footnotes
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Funding That Man May See and Research to Prevent Blindness.
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Competing interests None.
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Ethics approval Ethics approval was provided by University of Southern California.
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Patient consent Obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.
