TY - JOUR
T1 - Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy
AU - Rizzo, Giovanni
AU - Tozer, Kevin R.
AU - Tonon, Caterina
AU - Manners, David
AU - Testa, Claudia
AU - Malucelli, Emil
AU - Valentino, Maria Lucia
AU - la Morgia, Chiara
AU - Barboni, Piero
AU - Randhawa, Ruvdeep S.
AU - Ross-Cisneros, Fred N.
AU - Sadun, Alfredo A.
AU - Carelli, Valerio
AU - Lodi, Raffaele
PY - 2012/11/27
Y1 - 2012/11/27
N2 - 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
AB - 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
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U2 - 10.1371/journal.pone.0050230
DO - 10.1371/journal.pone.0050230
M3 - Article
C2 - 23209682
AN - SCOPUS:84870267230
VL - 7
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 11
M1 - e50230
ER -