June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients
Author Affiliations & Notes
  • agathe roubertie
    INM U 1051, INSERM, Montpellier, France
    Pediatric Neurology, Hôpital Gui de Chauliac, Montpellier, France
  • Nicolas Leboucq
    Neuroradiology, Hôpital Gui de Chauliac, Montpellier, France
  • Hervé Brunel
    Neuroradiology, Hôpital Gui de Chauliac, Montpellier, France
  • Emmanuelle Lebars
    Neuroradiology, Hôpital Gui de Chauliac, Montpellier, France
  • Michel Mondain
    ENT, Gui de Chauliac Hospital, Montpellier, France
  • Patrizia Amati Bonneau
    INSERM, U 694, Angers, France
  • Max Villain
    Ophtalmology, Gui de Chauliac Hospital, Montpellier, France
  • Isabelle Meunier
    Ophtalmology, Gui de Chauliac Hospital, Montpellier, France
    Center of Reference for Genetic Sensory Diseases, Gui de Chauliac Hospital, Montpellier, France
  • Guy Lenaers
    INM U 1051, INSERM, Montpellier, France
  • Christian Hamel
    INM U 1051, INSERM, Montpellier, France
    Center of Reference for Genetic Sensory Diseases, Gui de Chauliac Hospital, Montpellier, France
  • Footnotes
    Commercial Relationships agathe roubertie, Genzyme (F); Nicolas Leboucq, None; Hervé Brunel, None; Emmanuelle Lebars, None; Michel Mondain, None; Patrizia Amati Bonneau, None; Max Villain, None; Isabelle Meunier, None; Guy Lenaers, None; Christian Hamel, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1205. doi:
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      agathe roubertie, Nicolas Leboucq, Hervé Brunel, Emmanuelle Lebars, Michel Mondain, Patrizia Amati Bonneau, Max Villain, Isabelle Meunier, Guy Lenaers, Christian Hamel; Neurological and neuroradiological alterations in OPA1-linked dominant optic atrophy patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1205.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: To describe clinical and neuroradiological features of patients with OPA1 mutations in order to delineate their morphological and functional brain abnormalities in relation with the presence or absence of an OPA1-plus clinical phenotype.

Methods: Twenty two patients from 17 families with decreased visual acuity related to optic atrophy and carrying an OPA1 mutation were enrolled. Neurological and ophthalmological examinations were done including peripapillary RNFL thickness assessment using optical coherence tomography (OCT). Brain magnetic resonance imaging (T1, T2 and flair sequences) was performed on a 1.5-Tesla MR Unit. Measurement of the chiasm width and height was performed on T1 coronal sections. Twenty among the 22 patients underwent 2-D proton spectroscopic imaging (MRS) performed with a point-resolved spectroscopy (PRESS) multivoxel sequence, as 15-mm of slice thickness localized in the bicommissural plane at the level of the central grey nuclei, or monovoxel sequence in the cerebellum.

Results: Neurological examination was normal in all but one patient who presented with a transient right hand motor deficit. Brain imaging disclosed abnormalities in 12 patients: aspecific white matter hypersignal (5 patients), cerebellar atrophy (5 patients), hemispheric cortical atrophy (1 patient), lactate peak (3 patients). Mean chiasmatic dimensions were significantly reduced compared to normal values, and chiasmatic width was below 2 SD in 7 patients. When comparing the group of patients with brain imaging abnormalities with that of patients with normal MRI, no difference was sorted out regarding age at onset, duration of the disease, severity of the visual deficit, dimensions of the chiasm, RNFL thickness assessed by OCT, or OPA1 mutation subtypes. All the patients with hearing loss had abnormal brain imaging findings.

Conclusions: Our results demonstrate that brain imaging abnormalities are common in patients harboring OPA1 mutation, even in those without neurological complain and normal neurological examination. Lactate peak and cerebellar atrophy are consistent with the mitochondrial dysfunction related to OPA1 mutations. Cortical atrophy and white matter hypersignal suggest that OPA1 mutations result in widespread neuronal degeneration.

Keywords: 613 neuro-ophthalmology: optic nerve • 600 mitochondria • 550 imaging/image analysis: clinical  
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