Case #38 – Leber’s Hereditary Optic Neuropathy

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Case 2: Zeiss VISUCAM Color Fundus Camera Image OS March 2007 Although the fundus camera utilized in March 2007 was different than the one 3 years earlier, the disc and surrounding retina appear relatively unchanged. BCVA in the left eye at this time was 20/20.

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Case 2: Topcon Color Fundus & Zeiss GDx OS September 2004 The left disc and surrounding structures were minimally abnormal back in Sept 2004. There is perhaps slight disc hyperemia and subtle relative opacity of the RNFL.

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Case 2: Topcon & Zeiss VISUCAM Color Fundus Camera Images & Zeiss GDx OD Advanced serial analysis with the Sept 2004 GDx used as a baseline reveals first thickening and then thinning of the RNFL. In the column of images on the right, the Deviation from Baseline is depicted. Note the initial thickening

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Case 2: Topcon & Zeiss VISUCAM Color Fundus Camera Images OD Although he had no symptoms at age 9-12 and had 20/20 BCVA in each eye during this period, his right optic disc was not normal and displayed the characteristic findings of LHON carriers at risk of converting. Symptoms and VA reduction

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Case 2: Zeiss VISUCAM Color Fundus Camera Image & Zeiss GDx OD August 2007 Several months after the RNFL thickens as a result of both axoplasmic stasis and upregulation of mitochondria, the RNFL begins thinning and optic atrophy results.

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Case 2: Zeiss VISUCAM Color Fundus Camera Image & Zeiss GDx OD May 2007 The temporal pallor shown above correlates with the attenuation of the RNFL in the papillo-macula bundle. At the same time, the remainder of the RNFL is thickening as well documented with the GDx.

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Case 2: Zeiss VISUCAM Color Fundus Camera Image & Zeiss GDx OD April 2007 It has been shown with both optical coherence tomography (OCT) and scanning laser polarimetry that RNFL thickening can precede vision loss and occurs in a specific temporal sequence, typically starting in the inferior temporal quadrant.

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