[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies

P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

Dominant optic atrophy

G Lenaers, C Hamel, C Delettre… - Orphanet journal of rare …, 2012 - Springer
Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition
characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss …

Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy

G Rance, A Starr - Brain, 2015 - academic.oup.com
The effects of inner ear abnormality on audibility have been explored since the early 20th
century when sound detection measures were first used to define and quantify 'hearing loss' …

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

AE Shearer, MR Hansen - Laryngoscope investigative …, 2019 - Wiley Online Library
Cochlear implantation has become the standard‐of‐care for adults and children with severe
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …

Auditory neuropathy spectrum disorders: from diagnosis to treatment: literature review and case reports

RD De Siati, F Rosenzweig, G Gersdorff… - Journal of clinical …, 2020 - mdpi.com
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by deteriorated speech perception, despite relatively preserved pure-tone …

Toward cochlear therapies

J Wang, JL Puel - Physiological reviews, 2018 - journals.physiology.org
Sensorineural hearing impairment is the most common sensory disorder and a major health
and socio-economic issue in industrialized countries. It is primarily due to the degeneration …

The genetic basis of auditory neuropathy spectrum disorder (ANSD)

VKC Manchaiah, F Zhao, AA Danesh… - International journal of …, 2011 - Elsevier
OBJECTIVE: Auditory neuropathy is a hearing disorder where outer hair cell function within
the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is …

Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with …

Y Qiu, H Wang, M Fan, H Pan, J Guan, Y Jiang… - Cell Death & …, 2023 - nature.com
Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment caused by
dysfunction of inner hair cells, ribbon synapses, spiral ganglion neurons and/or the auditory …

Current advances in gene therapies of genetic auditory neuropathy spectrum disorder

AR Saidia, J Ruel, A Bahloul, B Chaix, F Venail… - Journal of Clinical …, 2023 - mdpi.com
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by an impaired transmission of sound from the cochlea to the brain. This …

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

R Santarelli, R Rossi, P Scimemi, E Cama… - Brain, 2015 - academic.oup.com
Hearing impairment is the second most prevalent clinical feature after optic atrophy in
dominant optic atrophy associated with mutations in the OPA1 gene. In this study we …