Abstract
Purpose: :
To describe the ophthalmic findings in patients with Danon disease, an X–linked cardiomyopathy.
Methods: :
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.
Results: :
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.
Conclusions: :
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.
Keywords: retinal degenerations: hereditary • gene/expression • genetics