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# Stargardt disease

The most common inherited macular dystrophy: central vision fades in children or young adults while side vision stays. Avoid vitamin A supplements.

Updated Nov 12, 2026

On this page

- The basics What it is
- Who gets it
- Causes
- Risk factors
- Pathophysiology
- In ophthalmology

- Clinical Symptoms and signs
- Red flags
- Diagnosis
- Differential diagnosis
- Complications
- Prognosis

- Treatment Goal of treatment
- Treatment

- Study Test yourself

- Connections Connections

## 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](https://durgical.com/en/anatomy/macula/) and later atrophy. Peripheral vision is usually preserved.

See it in 3D

- [Macula](https://durgical.com/en/anatomy/macula/)
- [Retina](https://durgical.com/en/anatomy/retina/)
- [Choroid](https://durgical.com/en/anatomy/choroid/)

## 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

## Red flags

- Unexplained bilateral central visual loss in a child or young adult
- Sudden worsening (rare choroidal new vessels)

## 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](https://durgical.com/en/anatomy/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.

[Add to my cards (3)](https://durgical.app/estudiar/?add=/en/conditions/stargardt-disease/)

## In ophthalmology

- [Visual electrophysiology: ERG, EOG and VEP](https://durgical.com/en/ophthalmology/visual-electrophysiology-erg-eog-and-vep/)

## Connections

## Related conditions 2

- [Retinitis pigmentosa](https://durgical.com/en/conditions/retinitis-pigmentosa/)
- [Age-related macular degeneration](https://durgical.com/en/conditions/age-related-macular-degeneration/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Stargardt Disease](https://www.ncbi.nlm.nih.gov/books/NBK587351/) (StatPearls Publishing (NCBI Bookshelf), 2024).

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Representative model, for educational purposes only.

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Source: https://durgical.com/en/conditions/stargardt-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/stargardt-disease/