Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease

Int Ophthalmol. 2019 Nov;39(11):2545-2552. doi: 10.1007/s10792-019-01102-y. Epub 2019 Apr 11.

Abstract

Purpose: To evaluate accumulation patterns of deposits in retinal layers of type B Niemann-Pick patients by multimodal imaging.

Methods: Seven patients with type B Niemann-Pick disease were included in this study. All participants underwent a complete ophthalmologic evaluation, high-resolution digital colour imaging, spectral-domain optical coherence tomography, blue light fundus autofluorescence and optical coherence tomography angiography (OCTA).

Results: We demonstrated different accumulation patterns in the retinal ganglion cell layer, the retinal nerve fibre layer and the subfoveolar region by multimodal imaging. Local retinal capillary nonflow areas in the superficial plexus, increased vascular tortuosity and deformed foveal avascular areas were shown in OCTA scans.

Conclusion: Multimodal imaging including OCTA is a useful technique for the identification of different types of accumulation patterns, diagnosis and follow-up of type B Niemann-Pick patients.

Keywords: Multimodal imaging; Niemann–Pick; Optical coherence tomography; Optical coherence tomography angiography.

MeSH terms

  • Adolescent
  • Child
  • Female
  • Fluorescein Angiography / methods*
  • Follow-Up Studies
  • Fundus Oculi
  • Humans
  • Male
  • Multimodal Imaging*
  • Niemann-Pick Disease, Type B / complications
  • Niemann-Pick Disease, Type B / diagnosis*
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / etiology
  • Retinal Ganglion Cells / pathology*
  • Retinal Vessels / pathology*
  • Retrospective Studies
  • Tomography, Optical Coherence / methods*
  • Visual Acuity
  • Young Adult