[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address Please contact the publisher to request reinstatement.
[Skip to Content Landing]
September 2013

Inner Macular Hyperreflectivity Demonstrated by Optical Coherence Tomography in Niemann-Pick Disease

Author Affiliations
  • 1Department of Ophthalmology, Mount Sinai Medical Center, New York, New York
  • 2Department of Ophthalmology, University of Alabama at Birmingham
  • 3Department of Pediatrics, Genetics, and Genomic Sciences, Mount Sinai Medical Center, New York, New York
JAMA Ophthalmol. 2013;131(9):1244-1246. doi:10.1001/jamaophthalmol.2013.2374

We describe spectral-domain optical coherence tomography (OCT; Heidelberg Spectralis) imaging of 3 patients with Niemann-Pick disease type B. This expands the range of previously reported anatomical correlates of the ophthalmoscopic macular halo surrounding the “cherry-red spot.”1

A 34-year-old man with Niemann-Pick disease type B was referred for ophthalmic evaluation. Best-corrected visual acuity was 20/30 OD and 20/25− OS. Dilated fundus examination revealed normal-appearing optic nerves, tortuous retinal veins, and venous beading. There were striking white macular halos surrounding the normal red foveal depressions in both eyes (Figure 1A). Spectral-domain OCT revealed a layer of hyperreflective retinal tissue at the shoulders of the foveal depression. The hyperreflective tissue extended across the foveal floor but was markedly thinner centrally (Figure 1A).

First Page Preview View Large
First page PDF preview
First page PDF preview