Purchase this article with an account.
Danielle S. Rudich, Christine A. Curcio, Melissa Wasserstein, Scott E. Brodie; Retinal Ganglion Cell Hypertrophy Demonstrated by Optical Coherence Tomography in Neimann-Pick Disease. Invest. Ophthalmol. Vis. Sci. 2012;53(14):963.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Neimann-Pick disease is a lysosomal storage disease which leads to multi-organ failure and death at an early age in severe cases. The "cherry red spot" is the classic retinal finding in patients with Neimann-Pick disease. These retinal changes are actually annular zones of whitening of the inner retina adjacent to the fovea, called "macular haloes." It is believed that the accumulation of undigested lipid material within retinal ganglion cells leads to hypertrophy and loss of transparency resulting in the characteristic halo. We have attempted to demonstrate this ganglion cell hypertrophy by optical coherence tomography imaging (OCT).
A retrospective case series. Three patients diagnosed with Neimann-Pick disease who underwent thorough ophthalmologic examination, including spectral mode OCT (Heidelberg Spectralis) between 2008-2011 at our instititution are presented.
The first patient was examined at age 34. A striking macular halo was present. Extensive hypertrophy of the retinal ganglion cell layer was seen by OCT at the shoulders of the foveal pit, extending centrally. The other two patients were brothers, examined at ages 5 and 10. The first brother initially presented with subtle clouding of the perimacular region, a forme fruste of macular halo. This was not seen at follow up examination 3 years later. His younger brother presented with perimacular clouding at age 5. In both brothers, a subtle intensification of the innermost retinal layer was seen in the perifoveal region on OCT.
Optical coherence tomography provides evidence that the clinical observation of macular haloes corresponds to ganglion cell hypertrophy in patients with Neimann-Pick disease.
This PDF is available to Subscribers Only