Article Text

This article has a correction. Please see:

other Versions

PDF
Retinal Findings in Patients with Alport Syndrome: Expanding the Clinical Spectrum
  1. Amani A Fawzi1,
  2. Nahyoung G Lee1,
  3. Dean Eliott1,
  4. Jonathan Song1 and
  5. Jay M Stewart2
  1. 1 University of Southern California, United States;
  2. 2 University of California, San Francisco, United States
  1. * Corresponding author; email: stewartj{at}vision.ucsf.edu

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 pathophysiologic overlap with other maculopathies including age-related macular degeneration is discussed.

Statistics from Altmetric.com

Footnotes

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Linked Articles

    • Correction
      BMJ Publishing Group Ltd.BMA House, Tavistock Square, London, WC1H 9JR