Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum.
OBJECTIVE
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.
Fawzi
A A
AA
Department of Ophthalmology, Doheny Retina Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Lee
N G
NG
Eliott
D
D
Song
J
J
Stewart
J M
JM
D000328:Adult; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D005260:Female; D005453:Fluorescence; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D055815:Young Adult