Mitochondrial optic neuropathies

Carelli, Valerio; Morgia, Chiara La; Yu‐Wai‐Man, Patrick

doi:10.1016/b978-0-12-821751-1.00010-5

Cited by 15 publications

(6 citation statements)

References 197 publications

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“…Less common presentations include cardiac arrhythmias, movement disorders, seizures, and MS-like illness. 8 …”

Section: Discussionmentioning

confidence: 99%

Relapsing White Matter Disease and Subclinical Optic Neuropathy

O'Neill,

Dugue,

Abreu

et al. 2024

Neurol Neuroimmunol Neuroinflamm

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A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive for oligoclonal bands that were not present in serum. Despite treatment with steroids, IV immunoglobulins, plasmapheresis, and rituximab, he continued to have episodes of weakness and numbness and new areas of T2 hyperintensity on imaging. Neuro-ophthalmologic examination revealed a subclinical optic neuropathy with predominant involvement of the papillomacular bundle. Genetic evaluation and brain biopsy led to an unexpected diagnosis.

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“…Less common presentations include cardiac arrhythmias, movement disorders, seizures, and MS-like illness. 8 …”

Section: Discussionmentioning

confidence: 99%

Relapsing White Matter Disease and Subclinical Optic Neuropathy

O'Neill,

Dugue,

Abreu

et al. 2024

Neurol Neuroimmunol Neuroinflamm

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“…The combinations (B-1), (B-2), (B-3), (B-4), (B-5), (C-1), (C-2), (C-3), (C-4), and (C-5) resulted in 16, 7, 9, 294, 47, 10, 3, 3, 87, and 47 references using Scifindern, while the less detailed, broader search in Google Scholar (where the reference nature cannot be chosen) led to 1400, 1020, 408, 5740, 3400, 376, 218, 122, 1060, and 770 documents. Similar searches in PubMed resulted in 19,3,13,284,196,10,1,6,91, and 60 books, documents, clinical trials, meta-analyses, randomized control trials, and narrative and systematic reviews, most of which were research papers and reviews. A closer look at the publication history of these study results in terms of trends can be appreciated in Figure 1.…”

Section: Methodsmentioning

confidence: 99%

“…Visual loss caused by optic nerve disorders is a frequent reason for consultation [19]. The clinical manifestations of optic neuropathies are highly heterogeneous, with diverse etiologies including vascular, inflammatory, toxico-nutritional, compressive, infiltrative, or traumatic causes.…”

Section: The Hereditary Optic Neuropathiesmentioning

confidence: 99%

“…The therapeutic approach must be multidisciplinary and fundamentally supportive. There are still very few evidence-based therapies (mainly idebenone and gene therapy) [19] that can effectively alter the natural history of visual loss in a favorable way. Genetic counseling is of great importance to assess the risk of genetic transmission to offspring.…”

Section: Treatment Of Hereditary Optic Neuropathiesmentioning

confidence: 99%

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Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells

Ladero,

Reche-Sainz,

Gallardo

2024

Bioengineering

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Hereditary optic neuropathies (HONs) such as dominant optic atrophy (DOA) and Leber Hereditary Optic Neuropathy (LHON) are mitochondrial diseases characterized by a degenerative loss of retinal ganglion cells (RGCs) and are a cause of blindness worldwide. To date, there are only limited disease-modifying treatments for these disorders. The discovery of induced pluripotent stem cell (iPSC) technology has opened several promising opportunities in the field of HON research and the search for therapeutic approaches. This systematic review is focused on the two most frequent HONs (LHON and DOA) and on the recent studies related to the application of human iPSC technology in combination with biomaterials technology for their potential use in the development of RGC replacement therapies with the final aim of the improvement or even the restoration of the vision of HON patients. To this purpose, the combination of natural and synthetic biomaterials modified with peptides, neurotrophic factors, and other low- to medium-molecular weight compounds, mimicking the ocular extracellular matrices, with human iPSC or iPSC-derived cell retinal progenitors holds enormous potential to be exploited in the near future for the generation of transplantable RGC populations.

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“…By far the most common mtDNA disease is caused by homoplasmic variants is LHON [ 51 ], with rarer cases of sensorineural hearing loss (SNHL) due to RNR1 mutation [ 52 ] and maternally-inherited hypertrophic cardiomyopathy (MIHC) due to tRNA Ile mutation [ 53 ] also reported. Most patients diagnosed with LHON present as adults with progressive vision loss in both eyes caused by selective loss of retinal ganglial cells (RGCs) [ 51 ], although some do present with additional neurological symptoms such as generalised dystonia [ 54 ]. LHON occurs more frequently in males (~45% of mutation carriers affected) compared to females (~10% of carriers affected) [ 55 ] and the onset of symptoms is often correlated with certain triggers, especially smoking tobacco [ 56 ].…”

Section: Tissue Specificity Of Homoplasmic Mtdna Disease In Humansmentioning

confidence: 99%

Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease

Burr,

Chinnery

2024

Human Molecular Genetics

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Mutations of mitochondrial (mt)DNA are a major cause of morbidity and mortality in humans, accounting for approximately two thirds of diagnosed mitochondrial disease. However, despite significant advances in technology since the discovery of the first disease-causing mtDNA mutations in 1988, the comprehensive diagnosis and treatment of mtDNA disease remains challenging. This is partly due to the highly variable clinical presentation linked to tissue-specific vulnerability that determines which organs are affected. Organ involvement can vary between different mtDNA mutations, and also between patients carrying the same disease-causing variant. The clinical features frequently overlap with other non-mitochondrial diseases, both rare and common, adding to the diagnostic challenge. Building on previous findings, recent technological advances have cast further light on the mechanisms which underpin the organ vulnerability in mtDNA diseases, but our understanding is far from complete. In this review we explore the origins, current knowledge, and future directions of research in this area.

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Mitochondrial optic neuropathies

Cited by 15 publications

References 197 publications

Relapsing White Matter Disease and Subclinical Optic Neuropathy

Relapsing White Matter Disease and Subclinical Optic Neuropathy

Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells

Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease

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