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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).