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Hereditary optic atrophy

MedGen UID:
45207
•Concept ID:
C0029125
•
Disease or Syndrome
Synonyms: Atrophies, Hereditary Optic; Atrophy, Hereditary Optic; Hereditary Optic Atrophies; Hereditary Optic Atrophy; Optic Atrophies, Hereditary; Optic Atrophy, Hereditary
SNOMED CT: Hereditary optic atrophy (26360005)
 
Monarch Initiative: MONDO:0043878
OMIM® Phenotypic series: PS165500

Definition

A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. [from NCI]

Professional guidelines

PubMed

Hydroxocobalamin in the treatment of Leber's hereditary optic atrophy.
Foulds WS, Cant JS, Chisholm IA, Bronte-Stewart J, Wilson J
Lancet 1968 Apr 27;1(7548):896-7. doi: 10.1016/s0140-6736(68)90243-2. PMID: 4171494

Recent clinical studies

Etiology

The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy.
Yang YP, Foustine S, Hsiao YJ, Tsai ET, Tsai FT, Wang CL, Ko YL, Tai HY, Tsai YC, Yang CH, Fu YJ, Wang AG, Chien Y
J Chin Med Assoc 2023 Jun 1;86(6):539-541. Epub 2023 Apr 10 doi: 10.1097/JCMA.0000000000000927. PMID: 37027535
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
Leber hereditary optic neuropathy: new and emerging therapies.
Davila-Siliezar P, Carter M, Milea D, Lee AG
Curr Opin Ophthalmol 2022 Nov 1;33(6):574-578. Epub 2022 Aug 24 doi: 10.1097/ICU.0000000000000891. PMID: 36066375
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150Free PMC Article
Hereditary optic neuropathies.
Newman NJ, Biousse V
Eye (Lond) 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591. PMID: 15534600

Diagnosis

Rapid and Sensitive Diagnosis of Leber Hereditary Optic Neuropathy Variants Using CRISPR/Cas12a Detection.
Wan X, Chen J, Wu Y, Chen Z, Liu Y, Li T, Sun J, Zhang T, Zhou F, Huang X, Li Y, Wang X, Sun X
J Mol Diagn 2023 Aug;25(8):540-554. doi: 10.1016/j.jmoldx.2023.04.006. PMID: 37517824
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet JM
Brain 2023 Aug 1;146(8):3156-3161. doi: 10.1093/brain/awad131. PMID: 37071596Free PMC Article
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P
Handb Clin Neurol 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. PMID: 36813316
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ
Curr Neurol Neurosci Rep 2022 Dec;22(12):881-892. Epub 2022 Nov 21 doi: 10.1007/s11910-022-01246-y. PMID: 36414808Free PMC Article
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150Free PMC Article

Therapy

Leber hereditary optic neuropathy gene therapy.
Lam BL
Curr Opin Ophthalmol 2024 May 1;35(3):244-251. Epub 2023 Dec 20 doi: 10.1097/ICU.0000000000001028. PMID: 38117686Free PMC Article
Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.
Shamsnajafabadi H, MacLaren RE, Cehajic-Kapetanovic J
Cells 2023 Aug 7;12(15) doi: 10.3390/cells12152013. PMID: 37566092Free PMC Article
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ
Curr Neurol Neurosci Rep 2022 Dec;22(12):881-892. Epub 2022 Nov 21 doi: 10.1007/s11910-022-01246-y. PMID: 36414808Free PMC Article
Leber hereditary optic neuropathy: new and emerging therapies.
Davila-Siliezar P, Carter M, Milea D, Lee AG
Curr Opin Ophthalmol 2022 Nov 1;33(6):574-578. Epub 2022 Aug 24 doi: 10.1097/ICU.0000000000000891. PMID: 36066375

Prognosis

Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.
Shamsnajafabadi H, MacLaren RE, Cehajic-Kapetanovic J
Cells 2023 Aug 7;12(15) doi: 10.3390/cells12152013. PMID: 37566092Free PMC Article
Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects.
Chow-Wing-Bom HT, Callaghan MF, Wang J, Wei S, Dick F, Yu-Wai-Man P, Dekker TM
Neuroimage Clin 2022;36:103240. Epub 2022 Oct 25 doi: 10.1016/j.nicl.2022.103240. PMID: 36510411Free PMC Article
Disorders of vision in multiple sclerosis.
Dhanapalaratnam R, Markoulli M, Krishnan AV
Clin Exp Optom 2022 Jan;105(1):3-12. Epub 2021 Aug 4 doi: 10.1080/08164622.2021.1947745. PMID: 34348598
Treatment strategies for Leber hereditary optic neuropathy.
Jurkute N, Harvey J, Yu-Wai-Man P
Curr Opin Neurol 2019 Feb;32(1):99-104. doi: 10.1097/WCO.0000000000000646. PMID: 30516647
Genetic Testing in Pediatric Ophthalmology.
Verma IC, Paliwal P, Singh K
Indian J Pediatr 2018 Mar;85(3):228-236. Epub 2017 Oct 2 doi: 10.1007/s12098-017-2453-7. PMID: 28971364

Clinical prediction guides

The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy.
Yang YP, Foustine S, Hsiao YJ, Tsai ET, Tsai FT, Wang CL, Ko YL, Tai HY, Tsai YC, Yang CH, Fu YJ, Wang AG, Chien Y
J Chin Med Assoc 2023 Jun 1;86(6):539-541. Epub 2023 Apr 10 doi: 10.1097/JCMA.0000000000000927. PMID: 37027535
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
Disorders of vision in multiple sclerosis.
Dhanapalaratnam R, Markoulli M, Krishnan AV
Clin Exp Optom 2022 Jan;105(1):3-12. Epub 2021 Aug 4 doi: 10.1080/08164622.2021.1947745. PMID: 34348598
Hereditary optic neuropathies.
Newman NJ, Biousse V
Eye (Lond) 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591. PMID: 15534600
Leber's hereditary optic atrophy.
Berninger TA, Bird AC, Arden GB
Ophthalmic Paediatr Genet 1989 Sep;10(3):211-27. doi: 10.3109/13816818909009877. PMID: 2685705

Recent systematic reviews

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.
Yuan J, Zhao J, Ye C, Pang L, Zhang X, Luk A, Du Y, Fan KY, Zhang X, Li B, Chen C
Biomed Res Int 2023;2023:1107866. Epub 2023 Jan 24 doi: 10.1155/2023/1107866. PMID: 36743514Free PMC Article
Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.
Harvey JP, Sladen PE, Yu-Wai-Man P, Cheetham ME
J Neuroophthalmol 2022 Mar 1;42(1):35-44. Epub 2021 Sep 30 doi: 10.1097/WNO.0000000000001375. PMID: 34629400
Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development.
Karaarslan C
Adv Ther 2019 Dec;36(12):3299-3307. Epub 2019 Oct 11 doi: 10.1007/s12325-019-01113-2. PMID: 31605306Free PMC Article

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