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R. Prall, A. Drack, D. Gregory, J. Olson, M. Taylor, N. Mandava; Ophthalmic Manifestations of Danon Disease . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3290.
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To describe the ophthalmic findings in patients with Danon disease, an X–linked cardiomyopathy.
Retrospective study of males and females from a large pedigree with genetically proven Danon disease. Complete eye examination, electroretinogram, color vision, visual fields, and fluorescein angiography were performed.
Five females (four affected) and two affected males were examined. Affected females demonstrated a unique peripheral pigmentary retinopathy. Lens changes, myopia, abnormal ERG and visual fields were also found. Males demonstrated a near complete loss of pigment in the retinal pigment epithelium.
We report the first description of a characteristic retinopathy in patients with Danon disease and the first extra–cardiac manifestations in females. Retinopathy potentially could be used to identify asymptomatic carriers.
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