Stargardt disease
The most common inherited macular dystrophy: central vision fades in children or young adults while side vision stays. Avoid vitamin A supplements.
What it is
An autosomal recessive macular dystrophy, usually caused by mutations in the ABCA4 gene, that leads to accumulation of toxic visual cycle by-products (lipofuscin) in the retinal pigment epithelium. Central vision declines in childhood or early adulthood, with yellow flecks around the macula and later atrophy. Peripheral vision is usually preserved.
Who gets it
The most common inherited macular dystrophy; onset usually in the first two decades but can be later.
Causes
- Biallelic mutations in the ABCA4 gene (autosomal recessive)
Risk factors
- Parents who carry the mutation, consanguinity
Pathophysiology
Defective ABCA4 transport allows vitamin A derivatives to build up as lipofuscin in the pigment epithelium, which dies, followed by the overlying photoreceptors at the macula.
Symptoms and signs
- Gradual loss of central vision in both eyes
- Difficulty reading and recognising faces
- Slow dark adaptation
- Colour vision changes
Diagnosis
- Clinical
- Bilateral macular atrophy with yellow-white pisciform flecks; early on the fundus may look nearly normal despite reduced acuity.
- Tests
- Genetic testing; electroretinography.
- Imaging
- Fundus autofluorescence shows flecks and atrophy; OCT shows outer retinal loss; angiography may show a 'dark choroid'.
Differential diagnosis
- Cone or cone-rod dystrophy
- Drug toxicity (hydroxychloroquine)
- Other macular dystrophies
- Functional visual loss
Goal of treatment
Support vision, slow damage and offer genetic counselling.
Treatment
- Rehabilitation
- Low vision aids, educational support and visual rehabilitation.
- Lifestyle
- Avoid vitamin A supplements and protect the eyes from bright light and ultraviolet.
- Follow-up
- Genetic counselling and information about clinical trials of gene and drug therapies.
Complications
- Legal blindness from central loss
- Rarely choroidal neovascularisation
Prognosis
Central vision usually declines to a low level over years, but peripheral vision and independent mobility are often preserved.
Test yourself
Think of the answer, then tap the question to see it.
Which gene is usually mutated in Stargardt disease?
ABCA4.
Which supplement should patients avoid?
Vitamin A supplements.
Which imaging best shows the flecks?
Fundus autofluorescence.
In ophthalmology
Connections
Educational information, not medical advice. For any symptom, see a health professional.
Sources: Stargardt Disease (StatPearls Publishing (NCBI Bookshelf), 2024).
Spotted a mistake?We are always improving for the community. Tell us what is wrong and our team will review it.Report a mistake
Representative model, for educational purposes only.