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Dorothy Hitchmoth, Jerome Sherman; New Potential Biomarker of Neurofibromatosis Type I, discovered with Multi-Spectral Imaging (MSI) of the Retinal Pigment Epithelium (RPE) and Choroid. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1574.
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© ARVO (1962-2015); The Authors (2016-present)
The purpose of our research was to document the nature and type of choroidal lesions that were detected with a novel commercially available imaging device.
A retrospective analysis of the examination records and images of 210 consecutive patients who were imaged with the Annidis RHA. Ten sequential images were obtained, each with a different color LED with a unique spectrum. Seven of 10 of these LEDs were in the red and infra-red part of the spectrum. Visible lesions greater than .5 DD on one or more of the 10 images were identified. Patient records of those with such documented lesions were evaluated in detail. Ultra-widefield (UWF) color images (Optos) were available in each case. In select cases, UWF FA, AF, Spectralis OCT, AF, FA, Topcon OCT and color images were also available.
1)There was one patient with approximately 15 lesions in each eye with corresponding dermatological lesions consistent with Neurofibromatosis Type I (NFI-1). The lesions were highly defined by MSI with red and infra-red LEDs but were invisible on ophthalmoscopy, SD-OCT, and high resolution Magnetic Resonance Imaging of the orbits. 2) Five patients had choroidal lesions which were visible with ophthalmoscopy and hence typical of choroidal nevi 3) Three patients had choroidal lesions that were invisible to ophthalmoscopy and hence not traditional nevi or other known choroidal lesions. One of these 3 patients had skin lesions highly suggestive of NF1.
Multi-spectral imaging (MSI) is a novel way to examine the retina and choroid. This technique revealed choroidal lesions associated with Neurofibromatosis 1 which are invisible to ophthalmoscopy and many other imaging devices. Such lesions have been rarely, if ever, documented in the world’s literature. We hypothesize that these choroidal lesions revealed by MSI, that were clinically invisible on SD-OCT and high resolution MRI, may represent a new biomarker for Neurofibromatosis 1. There are at least a dozen NFI -1 interventional drug studies presently underway. Whether these lesions change with treatment with any of these experimental drugs remains to be determined.
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