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Ophthalmology. 2019 Feb 26. pii: S0161-6420(18)33301-3. doi: 10.1016/j.ophtha.2019.02.018. [Epub ahead of print]

Functional changes of retinal ganglion cells and visual pathways in patients with Leber's hereditary optic neuropathy during one year of follow-up in chronic phase.

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IRCCS - Fondazione Bietti, Rome, Italy.
IRCCS - Fondazione Bietti, Rome, Italy. Electronic address:
Ospedale Oftalmico, Rome, Italy.
Azienda Ospedaliera San Camillo-Forlanini, Rome, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Bologna, Italy.
Studio oculistico d'Azeglio, Bologna, Italy; IRCCS Istituto Scientifico San Raffaele, Milan, Italy.



To assess changes of retinal ganglion cells (RGCs) and visual pathways' function in patients with Leber's hereditary optic neuropathy (LHON) during 12 months of follow-up of chronic phase.


Retrospective case series.


Twenty-two LHON patients (mean age: 36.3±9.3 years) in the "chronic phase" of the disease, providing 42 eyes (LHON Group) with different pathogenic mitochondrial DNA mutations (Group 11778: 21 eyes; Group 3460: 4 eyes, Group 14484: 13 eyes, and Group14568: 4 eyes) were enrolled. Twenty-five age-similar healthy subjects, providing 25 eyes, served as controls.


Pattern Electroretinogram (PERG) and Visual Evoked Potentials (VEP), in response to 60' and 15' checks visual stimuli, were recorded at baseline in all subjects and after 6 and 12 months of follow-up in LHON patients. At baseline, in all LHON eyes for each PERG and VEP parameter (amplitude and implicit time), the 95 % confidence limit (CL) of test-retest variability was calculated. PERG and VEP mean values observed in LHON eyes were compared (One-Way Analysis of Variance: ANOVA) to those of controls. During the follow-up, the PERG and VEP differences observed with respect to baseline were evaluated by ANOVA.


Changes of individual and of mean absolute values of 60' and 15' PERG amplitude and VEP amplitude and implicit time at each time point compared to baseline values in LHON Group.


At baseline, mean values of PERG and VEP parameters detected in LHON Group were significantly (p<0.01) different with respect to control ones. In LHON Group, at 6 and 12 months of follow-up, the majority of eyes showed unmodified (within 95% CL) PERG and VEP values and mean absolute values of these measures were not significantly (p>0.01) different from baseline ones.


In our untreated chronic LHON patients, with different specific pathogenic mutations, RGCs and visual pathways function were not significantly modified during 12 months of follow-up. This should be considered in the disease natural history when attempts for treatments are proposed in chronic LHON.

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