Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy

Giovanni Rizzo, Kevin R. Tozer, Caterina Tonon, David Manners, Claudia Testa, Emil Malucelli, Maria Lucia Valentino, Chiara la Morgia, Piero Barboni, Ruvdeep S. Randhawa, Fred N. Ross-Cisneros, Alfredo A. Sadun, Valerio Carelli, Raffaele Lodi

Research output: Contribution to journalArticlepeer-review

Abstract

Leber's hereditary optic neuropathy (LHON) is characterized by retinal ganglion cell (RGC) degeneration with the preferential involvement of those forming the papillomacular bundle. The optic nerve is considered the main pathological target for LHON. Our aim was to investigate the possible involvement of the post-geniculate visual pathway in LHON patients. We used diffusion-weighted imaging for in vivo evaluation. Mean diffusivity maps from 22 LHON visually impaired, 11 unaffected LHON mutation carriers and 22 healthy subjects were generated and compared at level of optic radiation (OR). Prefrontal and cerebellar white matter were also analyzed as internal controls. Furthermore, we studied the optic nerve and the lateral geniculate nucleus (LGN) in post-mortem specimens obtained from a severe case of LHON compared to an age-matched control. Mean diffusivity values of affected patients were higher than unaffected mutation carriers (P

Original languageEnglish
Article numbere50230
JournalPLoS One
Volume7
Issue number11
DOIs
Publication statusPublished - Nov 27 2012

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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