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Multimodal Imaging in Best Vitelliform Macular Dystrophy.

Jose Ronaldo Lima de Carvalho1,2,3, Maarjaliis Paavo1, Lijuan Chen1,4

  • 1Department of Ophthalmology, Harkness Eye Institute, Columbia University, New York, New York, United States.

Investigative Ophthalmology & Visual Science
|May 10, 2019
PubMed
Summary

Near-infrared fundus autofluorescence (NIR-AF) can detect early Best vitelliform macular dystrophy (BVMD) before visible symptoms appear. Short-wavelength autofluorescence (SW-AF) is not elevated outside lesions in BVMD patients with BEST1 mutations.

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Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Genetics

Background:

  • Best vitelliform macular dystrophy (BVMD) is a genetic condition affecting central vision.
  • Understanding the pathogenic mechanisms of BVMD is crucial for developing effective treatments.

Purpose of the Study:

  • To investigate the utility of quantitative fundus autofluorescence (qAF), near-infrared fundus autofluorescence (NIR-AF), and spectral-domain optical coherence tomography (SD-OCT) in elucidating BVMD pathogenesis.
  • To correlate imaging findings with different stages of BVMD.

Main Methods:

  • Recruited 14 patients heterozygous for BEST1 mutations.
  • Acquired short-wavelength fundus autofluorescence (SW-AF), NIR-AF, and SD-OCT images.
  • Quantified autofluorescence in nonlesion areas and staged BVMD based on OCT findings.

Main Results:

  • NIR-AF identified the pre-vitelliform stage by showing reduced fluorescence.
  • Puncta of elevated NIR-AF signal were observed in the vitelliruptive stage.
  • Vitelliform lesions in the atrophic stage showed reduced SW-AF and NIR-AF signals.
  • SD-OCT revealed fluid-filled detachments between the ellipsoid zone and RPE/Bruch's membrane.

Conclusions:

  • NIR-AF imaging is valuable for detecting the pre-vitelliform stage of BVMD.
  • BEST1 mutations do not correlate with increased SW-AF outside the lesion.
  • Elevated SW-AF within lesions suggests impaired RPE function and photoreceptor cell damage.