---
title: Danon disease
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/danon-disease/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Danon disease

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