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Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches. ...Although approved treat …
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeuti …
Ophthalmological management in craniosynostosis.
Touzé R, Bremond-Gignac D, Robert MP. Touzé R, et al. Neurochirurgie. 2019 Nov;65(5):310-317. doi: 10.1016/j.neuchi.2019.09.016. Epub 2019 Sep 28. Neurochirurgie. 2019. PMID: 31574284 Review.
RESULTS AND DISCUSSION: Many ophthalmic, potentially sight-threatening, complications, can occur in patients with craniosynostosis, especially when syndromic. Optic neuropathy, mostly resulting from the papilledema-optic atrophy sequence, secondary to raised …
RESULTS AND DISCUSSION: Many ophthalmic, potentially sight-threatening, complications, can occur in patients with craniosynostosis, especial …
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K. Verma IC, et al. Indian J Pediatr. 2018 Mar;85(3):228-236. doi: 10.1007/s12098-017-2453-7. Epub 2017 Oct 2. Indian J Pediatr. 2018. PMID: 28971364 Review.
The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis …
The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, ant …
Current treatment options for treating OPA1-mutant dominant optic atrophy.
Ferro Desideri L, Traverso CE, Iester M. Ferro Desideri L, et al. Drugs Today (Barc). 2022 Nov;58(11):547-552. doi: 10.1358/dot.2022.58.11.3448291. Drugs Today (Barc). 2022. PMID: 36422516 Review.
Dominant optic atrophy (DOA) is caused by OPA1 gene mutation, and it represents one of the most frequently diagnosed forms of hereditary optic neuropathies. ...Furthermore, gene therapy represents also a promising therapeutic approach; however, …
Dominant optic atrophy (DOA) is caused by OPA1 gene mutation, and it represents one of the most frequently diagnosed forms of …
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24. Am J Ophthalmol. 2024. PMID: 38278202 Free article.
PURPOSE: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of Dominant Optic Atrophy (DOA). We aimed at …
PURPOSE: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene …
Treatment of hereditary optic neuropathies.
Newman NJ. Newman NJ. Nat Rev Neurol. 2012 Oct;8(10):545-56. doi: 10.1038/nrneurol.2012.167. Epub 2012 Sep 4. Nat Rev Neurol. 2012. PMID: 22945544 Review.
Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. ...Lessons learned from treatment of the hereditary optic neuropathies may have …
Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic …
Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.
Newman NJ, Yu-Wai-Man P, Biousse V, Carelli V. Newman NJ, et al. Lancet Neurol. 2023 Feb;22(2):172-188. doi: 10.1016/S1474-4422(22)00174-0. Epub 2022 Sep 22. Lancet Neurol. 2023. PMID: 36155660 Review.
Hereditary optic neuropathies result from defects in the human genome, both nuclear and mitochondrial. The two main and most recognised phenotypes are dominant optic atrophy and Leber hereditary optic neuropathy. Advances in modern molecular diagnosis …
Hereditary optic neuropathies result from defects in the human genome, both nuclear and mitochondrial. The two main and most recognis …
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu X, Wang P, Jia X, Sun W, Li S, Xiao X, Hejtmancik JF, Zhang Q. Xu X, et al. Mol Genet Genomics. 2021 Jul;296(4):845-862. doi: 10.1007/s00438-021-01783-0. Epub 2021 Apr 21. Mol Genet Genomics. 2021. PMID: 33884488
Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. ...Variants in OPA1 were selected from the exome sequencing results in 7092 cases of hereditary eye diseases and control groups from our in-h …
Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. . …
From Transcriptomics to Treatment in Inherited Optic Neuropathies.
Gilhooley MJ, Owen N, Moosajee M, Yu Wai Man P. Gilhooley MJ, et al. Genes (Basel). 2021 Jan 22;12(2):147. doi: 10.3390/genes12020147. Genes (Basel). 2021. PMID: 33499292 Free PMC article. Review.
Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultima …
Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA …
Progress in diagnosis and treatment of Leber's hereditary optic neuropathy.
Ma Q, Sun Y, Lei K, Luo W. Ma Q, et al. J Mol Med (Berl). 2024 Jan;102(1):1-10. doi: 10.1007/s00109-023-02389-2. Epub 2023 Nov 20. J Mol Med (Berl). 2024. PMID: 37982904 Review.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease with central vision loss as the main symptom. It is one of the diseases that cause vision loss and optic atrophy in young and middle-aged people. The mutations of these three primar …
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease with central vision loss as the main symptom. It is one …
95 results