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Late-onset Stargardt disease.

Joseph B Alsberge1, Anita Agarwal2,3

  • 1Department of Ophthalmology, Northwest Permanente, Portland, OR, USA.

American Journal of Ophthalmology Case Reports
|March 4, 2022
PubMed
Summary
This summary is machine-generated.

Late-onset Stargardt disease can mimic other eye conditions in adults. High-dose vitamin A supplementation may worsen Stargardt disease, so patients should discuss avoidance with their doctors.

Keywords:
ABCA4 geneDifferential diagnosisHereditary macular dystrophyLate-onset stargardt diseaseMacular degenerationVitamin A

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Stargardt disease (STGD) is a common inherited macular dystrophy.
  • STGD typically presents in childhood or adolescence.

Observation:

  • A 60-year-old man presented with bilateral vision impairment.
  • Clinical findings included macular atrophy, hyperautofluorescent flecks, and a dark choroid on angiography.
  • Genetic testing confirmed STGD due to pathogenic ABCA4 variations.

Findings:

  • This case highlights a rare late-onset presentation of STGD.
  • The patient's symptoms and signs could be misdiagnosed as age-related macular degeneration.
  • Normal rod and cone function on electroretinogram was noted.

Implications:

  • Late-onset STGD requires consideration in adult patients with macular disease.
  • High-dose vitamin A supplementation may pose a risk for STGD progression.
  • Clinicians should counsel STGD patients on vitamin A intake.