Danon disease is an X-linked lysosomal storage disorder causing cardiomyopathy, skeletal myopathy, and intellectual disability. Ocular changes are common.
Eye findings
Retinal involvement can resemble a pigmentary retinopathy.
- Granular or mottled retinal pigment epithelium changes
- Visual field defects and potential night-vision problems
- Ptosis or external ophthalmoplegia in some patients
- LAMP2 gene mutations confirm the diagnosis
Management
Care focuses on cardiac status and visual monitoring.
- Regular cardiology review, including consideration of transplant or devices
- Ophthalmic follow-up for retinal function and low-vision support if needed
- Genetic counselling for family members, particularly females at risk of milder disease
- Physiotherapy for skeletal muscle weakness
