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Stargardt disease
Other Resources UpToDate PubMed

Stargardt disease

Contributors: Deepak Sobti MD
Other Resources UpToDate PubMed


Stargardt disease is a hereditary disorder of macular degeneration due to mutations in the ABCA4 (autosomal recessive pattern) or ELOVL4 (autosomal dominant pattern) genes. The most common type of juvenile macular degeneration. As a result of the build-up of toxic substances in photoreceptor cells due to ABCA4 mutation, retinal cell death occurs and central vision progressively worsens. Long-chain fatty acid ELOVL4 aggregate build-up impairs cell function and causes retinal cell death, contributing to progressive vision loss. Onset in children ages 7-12. No curative therapy is available, although gene replacement therapy is in development. Avoiding overexposure to light and avoiding vitamin A supplements may help delay progression.


H35.50 – Unspecified hereditary retinal dystrophy

70099003 – Stargardt's disease

Differential Diagnosis & Pitfalls

  • Fundus albipunctatus
  • Drusen
  • Retinitis punctate albescens
  • Cone or cone-rod dystrophy
  • Chloroquine / hydroxychloroquine toxicity
  • Batten disease
  • Spielmeyer-Vogt syndrome
  • Functional vision loss

Best Tests

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Last Updated:01/24/2022
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Stargardt disease
A medical illustration showing key findings of Stargardt disease : Blurred vision, Macula abnormality, Vision loss
Clinical image of Stargardt disease - imageId=6214948. Click to open in gallery.
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