Mitochondrial dysfunction as a cause of optic neuropathies

Carelli, Valerio; Ross‐Cisneros, Fred N.; Sadun, Alfredo A.

doi:10.1016/j.preteyeres.2003.10.003

Cited by 702 publications

(717 citation statements)

References 296 publications

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“…The participation of efferent inhibitory activity of the olivocochlear bundle synapsing on auditory nerve terminals could play a role in attenuating the depolarization of auditory nerve terminal if their spontaneous activity were increased in this disorder. In OPA1 mutations, the visual loss is thought to be due to dysfunction of unmyelinated portions of the optic nerve in the retina while sparing the receptor rods and cones (Carelli et al, 2004). In the present study, electrical stimulation by cochlear implants restored hearing and normal synchronous activity in auditory brainstem pathways most likely by activating myelinated portions of auditory nerve.…”

Section: Discussionsupporting

confidence: 55%

“…Since nerve fibers of the cochlear and the retina are both highly energy-dependent, their function would become susceptibility to ATP deficiency or the negative consequences of their metabolism such as the production of reactive oxygen species (Carelli et al, 2004;Zanna et al, 2008). The time course of the clinical expression of optic and auditory nerve dysfunction can be delayed for many years.…”

Section: Discussionmentioning

confidence: 99%

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Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

2009

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Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative disease characterized by a progressive bilateral visual loss. We report on two affected members of a family with dominantly inherited neuropathy of both optic and auditory nerves expressed by impaired visual acuity, moderate pure tone hearing loss, and marked loss of speech perception. We investigated cochlear abnormalities accompanying the hearing loss and the effects of cochlear implantation. We sequenced OPA1 gene and recorded cochlear receptor and neural potentials before cochlear implantation. Genetic analysis identified R445H mutation in OPA1 gene. Audiological studies showed preserved cochlear receptor outer hair cell activities (otoacoustic emissions) and absent or abnormally delayed auditory brainstem responses (ABRs). Trans-tympanic electrocochleography (ECochG) showed prolonged low amplitude negative potentials without auditory nerve compound action potentials. The latency of onset of the cochlear potentials was within the normal range found for inner hair cell summating receptor potentials. The duration of the negative potential was reduced to normal during rapid stimulation consistent with adaptation of neural sources generating prolonged cochlear potentials. Both subjects had cochlear implants placed with restoration of hearing thresholds, speech perception, and synchronous activity in auditory brainstem pathways. The results suggest that deafness accompanying this OPA1 mutation is due to altered function of terminal unmyelinated portions of auditory nerve. Electrical stimulation of the cochlea activated proximal myelinated portions of auditory nerve to restore hearing

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Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

2009

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“…5). This is a crucial point since the number of optic atrophies associated with mutation of mitochondrial proteins is rapidly growing (47,48). Furthermore, the importance of accurately controlled mitochondrial dynamics in neuronal cells is becoming increasingly well documented.…”

Section: Effects Of Opa1 Pathogenic Alleles On Cellmentioning

confidence: 99%

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

Olichon

Landes

Arnauné-Pelloquin

et al. 2006

Journal Cellular Physiology

129

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“…On the other hand, loss of retinal ganglion cells and RNFL has been demonstrated in LHON. [26][27][28][29][30] Barboni et al 26 showed severely decreased RNFL thickness in the temporal, superior, and inferior quadrants with a relative sparing in the nasal quadrant using OCT in the atrophic phase of LHON. According to their study, the reduction rate of RNFL thickness in the temporal quadrant was about 40%.…”

Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Nagai-Kusuhara

Nakamura

Kanamori

et al. 2007

Eye

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Purpose To test whether Heidelberg Retina Tomograph (HRT) is applicable to assess the optic nerve head (ONH) configuration of the atrophic phase of non-glaucomatous optic neuropathy when a default set of the reference plane is used. Methods Ten eyes with non-arteritic anterior ischaemic optic neuropathy (NAION), 17 eyes with Leber's hereditary optic neuropathy (LHON), 40 eyes with compressive optic neuropathy (CON) owing to chiasmal tumour, and 241 eyes of control individuals were examined with HRT using the default reference plane. The global values of HRT parameters were evaluated among the groups of patients and controls. The sectoral measurements of the eyes with LHON and CON were compared with controls. To eliminate the influence of disc size and age on HRT measurements, eyes with disc area-and age-matched normal controls were used for comparison with eyes with NAION and LHON. Results Cup parameters in eyes with NAION were similar to those in controls. The retinal nerve fibre layer (RNFL) thickness was significantly thinner in eyes with NAION than that of controls. The eyes with LHON had significantly larger cup parameters, smaller rim volume, and thinner mean RNFL thickness than controls. Eyes with CON had significantly larger rim area and smaller cup parameters but similar RNFL thickness compared with controls. Conclusions When the default reference plane is used, HRT can measure the ONH configuration in eyes with NAION and LHON as expected. However, caution must be made to interpret the parameters obtained from the eyes with CON.

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Mitochondrial dysfunction as a cause of optic neuropathies

Cited by 702 publications

References 296 publications

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

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