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Ophthalmology. 2006 Jun;113(6):1010-3.

Ophthalmic manifestations of Danon disease.

Author information

1
Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA.

Abstract

PURPOSE:

To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.

DESIGN:

Retrospective case series.

PARTICIPANTS:

Patients with genetically proven Danon disease.

METHODS:

Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography.

RESULTS:

Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium.

CONCLUSION:

We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.

PMID:
16751040
DOI:
10.1016/j.ophtha.2006.02.030
[Indexed for MEDLINE]

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