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).
Rudich DS, Curcio CA, Wasserstein M, Brodie SE. Inner Macular Hyperreflectivity Demonstrated by Optical Coherence Tomography in Niemann-Pick Disease. JAMA Ophthalmol. 2013;131(9):1244-1246. doi:10.1001/jamaophthalmol.2013.2374