April 2011
Volume 52, Issue 14
ARVO Annual Meeting Abstract  |   April 2011
Multimodal Imaging of Drusen Associated with Malattia Leventinese
Author Affiliations & Notes
  • Sandrine A. Zweifel
    Eye Department, Triemli Hospital, Zurich, Switzerland
    University Hospital Zurich, Eye department, Switzerland
  • Patrizia Tschuor
    Eye Department, Triemli Hospital, Zurich, Switzerland
  • Istvan Magyar
    Med Molecular Genetics, University of Zurich, Schwerzenbach, Switzerland
  • Wolfgang Berger
    Med Molecular Genetics, University of Zurich, Schwerzenbach, Switzerland
  • Matthias Becker
    Eye Department, Triemli Hospital, Zurich, Switzerland
  • Christina Springer
    Eye Department, Triemli Hospital, Zurich, Switzerland
  • Stephan Michels
    Eye Department, Triemli Hospital, Zurich, Switzerland
  • Footnotes
    Commercial Relationships  Sandrine A. Zweifel, None; Patrizia Tschuor, None; Istvan Magyar, None; Wolfgang Berger, None; Matthias Becker, None; Christina Springer, None; Stephan Michels, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 3703. doi:
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      Sandrine A. Zweifel, Patrizia Tschuor, Istvan Magyar, Wolfgang Berger, Matthias Becker, Christina Springer, Stephan Michels; Multimodal Imaging of Drusen Associated with Malattia Leventinese. Invest. Ophthalmol. Vis. Sci. 2011;52(14):3703.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: : Malattia Leventinese (ML) is a dominantly inherited macular dystrophy characterized by a radial pattern of drusen in the macular area and on the nasal edge of the optic disc. Increasing confluence of these drusen can lead to a honeycomb appearance. This study describes morphological features of drusen associated with ML using multimodal imaging including spectral domain optical coherence tomography (SD OCT).

Methods: : Four eyes from two patients with the ML phenotype were analyzed by fluorescein (FA) and indocyanine green angiography (ICG), fundus autofluorescence (AF), near infrared reflectance (NIR) and SD OCT imaging.

Results: : A 34 year old asymptomatic woman (case 1) presented with multiple drusen in the macular region and around the optic nerve head in both eyes. These deposits fluorescenced early in the FA and showed intense coloration in ICG similar to cuticular drusen. The corresponding SD OCT revealed two types of formed material. The first was sub retinal pigment epithelium (RPE) deposits which appeared as dome- or pyramid-shaped; these findings were in agreement with the findings in literature. The second type seemed to be localized on the anterior part of the RPE which could be confused with subretinal drusenoid deposits (SDD; reticular pseudodrusen). However in contrast to SDD the material was not clearly differentiable from the underlying RPE, was hyperautofluorescent, highly reflective on NIR and was not better visible with blue light. Her 67-year- old mother did not show any type of drusen. Her father and brother declined to participate in the study. Fundus examination of a 33-year-old (case 2) showed more confluent yellowish deposits also known as honeycomb appearance. These macular and parapillary deposits showed the same appearance on FA, ICG, AF and NIR as described in case 1 and appeared as nodular sub RPE deposits on SD OCT similar to the first type of deposits mentioned in case 1.

Conclusions: : Multimodal imaging using SD OCT provided new information about the appearance of drusen in eyes with ML. In addition to the sub-RPE deposits some material which might be mistaken for SDD was observed on SD OCT. However in contrast to SDD drusen associated with ML showed different characteristic findings on FA/ICG, AF, NIR and blue light images. SD OCT alone might not be sufficient to differentiate these types of drusen.

Keywords: drusen • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • imaging/image analysis: clinical 

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