Table of Contents
Main Features
Eye Findings
Other Findings
Etiology
Resources
Danon Disease
Main Features
Hypertropic Cardiomyopathy
Skeletal myopathy
Intellectual disability
Eye Findings
Pigmentary Retinopathy (20%)
Cone-Rod Dystrophy
Other Findings
Cardiac conduction abnormalities
Wolff-Parkinson-White syndrome
other arrhythmias
Heart failure
Etiology
LAMP2 gene mutations- X-linked
encodes the lysosome-associated membrane protein-2
Males present earlier and have a more severe course often requiring heart transplant by the 3rd decade of life
Histopathology
autophagic vaculoes showing disrupted autophage
Resources
International Consensus on Differential Diagnosis and Management of Patients With Danon Disease
Ophthalmic Manifestations of Danon Disease
Gene Reviews
syndrome