期刊
OPHTHALMOLOGY
卷 113, 期 6, 页码 1010-1013出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ophtha.2006.02.030
关键词
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Purpose: To describe the ophthalmic findings inpatients 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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