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.