Ophthalmic manifestations of Danon disease.
To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. Retrospective case series. Patients with genetically proven Danon disease. Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography. 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. 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.