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Stargardt Disease.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Stargardt disease (STGD) is a common macular dystrophy affecting young adults, characterized by progressive vision loss. Early onset indicates a more severe disease course, with characteristic fundus findings and potential peripapillary sparing.

Keywords:
Autosomal recessiveStargardt disease

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Stargardt disease (STGD) is a leading cause of macular dystrophy in young adults.
  • It is characterized by slow progression and variable onset, typically in childhood or adolescence.
  • Prevalence ranges from 1:8,000 to 1:10,000, with earlier onset correlating to more severe disease.

Purpose of the Study:

  • To summarize the key clinical and diagnostic features of Stargardt disease.
  • To highlight the typical fundus appearance and imaging characteristics.
  • To discuss potential reasons for peripapillary sparing in STGD.

Main Methods:

  • Review of clinical presentation and diagnostic findings in Stargardt disease.
  • Analysis of fundus autofluorescence (FAF) patterns.
  • Discussion of potential pathomechanisms for peripapillary sparing.

Main Results:

  • STGD presents with vision loss (20/70 to 20/200) and characteristic fundus findings like bull's eye maculopathy or flecks.
  • Fluorescein angiography often shows a dark choroid (80% of cases).
  • FAF reveals dynamic changes in flecks (hyper- to hypoautofluorescence) and peripapillary sparing in most cases (93-98%).

Conclusions:

  • Peripapillary sparing in STGD may be due to genetic resilience, favorable RPE-photoreceptor ratio, and thicker retinal nerve fiber layer.
  • Patients should avoid bright light and excessive vitamin A intake.
  • Understanding STGD's characteristics aids in diagnosis and management.