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STARGARDT DISEASE: Beyond Flecks and Atrophy.

Jacob G Light1, Masoud A Fard2, Mehdi Yaseri2

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Subtle outer retinal changes occur in Stargardt disease (STGD) even without visible atrophy or flecks. These early spectral-domain optical coherence tomography findings indicate more widespread pathology in STGD than previously recognized.

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Area of Science:

  • Ophthalmology
  • Retinal Imaging
  • Genetic Eye Diseases

Background:

  • Stargardt disease (STGD) is a common inherited macular dystrophy.
  • Clinical examination may not reveal subtle outer retinal changes in STGD.
  • Spectral-domain optical coherence tomography (SD-OCT) allows detailed visualization of retinal layers.

Purpose of the Study:

  • To identify early, subclinical changes in the outer retina of Stargardt disease patients.
  • To investigate alterations in areas without apparent atrophy or flecks using SD-OCT.

Main Methods:

  • SD-OCT imaging was performed on 23 STGD patients and 26 controls.
  • Measurements included outer retina thickness (Bruch membrane [BrM] to ellipsoid zone [EZ]), BrM-retinal pigment epithelium (RPE) apex, EZ thickness, and apical process interdigitation zone.
  • Quantitative analysis compared STGD patients to healthy controls.

Main Results:

  • STGD patients showed increased BrM-EZ thickness in disease-free areas compared to controls.
  • The BrM-RPE segment contributed more to BrM-EZ thickness in STGD.
  • EZ thickness and RPE-EZ interspace were reduced in STGD patients.
  • Interdigitation zone was interrupted in 84.2% of STGD eyes versus 23.1% of control eyes.
  • The BrM-EZ segment lacked the normal trilaminar pattern in STGD patients.

Conclusions:

  • Subtle structural changes exist in the BrM-EZ segment of the outer retina in STGD patients, even in areas without clinical signs of disease.
  • These findings suggest that pathologic processes in Stargardt disease are more extensive than previously appreciated.
  • SD-OCT can detect early, widespread retinal alterations in STGD.