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  • Title: Ophthalmic manifestations of Danon disease.
    Author: Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N.
    Journal: Ophthalmology; 2006 Jun; 113(6):1010-3. PubMed ID: 16751040.
    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.
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