[Debut of Leber's hereditary optic neuropathy. Macular segmentation analysis using optical coherence tomography]

Arch Soc Esp Oftalmol. 2015 May;90(5):233-6. doi: 10.1016/j.oftal.2014.04.011. Epub 2014 Nov 20.
[Article in Spanish]

Abstract

Case report: Two clinical cases are presented of two family relatives newly diagnosed with Leber hereditary optic neuropathy (LHON) and G11778A mutation analysis by optical coherence tomography (Cirrus HD-OCT, Carl Zeiss Meditec, Dublin, California, USA) layer peripapillary fibers retina (RNFL) and ganglion cell and internal plexiform layers (GCL/IPL) using macular segmentation.

Discussion: The analysis of the macula by OCT segmentation (version 6.0 Cirrus OCT) allows the GCL/IPL to be evaluated without the interindividual variability of peripapillary RNFL distribution or the presence of edema of the optic disc. When an analysis of the peripapillary RNFL, it does not provide information on this neuronal damage, which itself is evidence in the study of GCL/IPL.

Keywords: Leber; Macular segmentation; Neuropatía óptica; Optic neuropathy; Optical coherence tomography; Segmentación macular; Tomografía coherencia óptica.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fundus Oculi
  • Humans
  • Macula Lutea / pathology*
  • Male
  • Mutation, Missense
  • Nerve Fibers / ultrastructure
  • Optic Atrophy, Hereditary, Leber / diagnosis*
  • Optic Atrophy, Hereditary, Leber / pathology
  • Optic Nerve / pathology
  • Point Mutation
  • Tomography, Optical Coherence*
  • Young Adult