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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

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
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group
Ophthalmology 2021 May;128(5):649-660. Epub 2021 Jan 12 doi: 10.1016/j.ophtha.2020.12.012. PMID: 33451738
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Bagli E, Zikou AK, Agnantis N, Kitsos G
In Vivo 2017 Jul-Aug;31(4):511-525. doi: 10.21873/invivo.11090. PMID: 28652416Free 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

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
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
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
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group
Ophthalmology 2021 May;128(5):649-660. Epub 2021 Jan 12 doi: 10.1016/j.ophtha.2020.12.012. PMID: 33451738

Therapy

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
Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups.
Lam BL, Feuer WJ, Davis JL, Porciatti V, Yu H, Levy RB, Vanner E, Guy J
Am J Ophthalmol 2022 Sep;241:262-271. Epub 2022 Mar 7 doi: 10.1016/j.ajo.2022.02.023. PMID: 35271811Free PMC Article
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group
Ophthalmology 2021 May;128(5):649-660. Epub 2021 Jan 12 doi: 10.1016/j.ophtha.2020.12.012. PMID: 33451738
Treatment of Leber's Hereditary Optic Neuropathy.
Karanjia R, Chahal J, Ammar M, Sadun AA
Curr Pharm Des 2017;23(4):624-628. doi: 10.2174/1381612823666170125164856. PMID: 28128056

Prognosis

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
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group
Ophthalmology 2021 May;128(5):649-660. Epub 2021 Jan 12 doi: 10.1016/j.ophtha.2020.12.012. PMID: 33451738
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

Ophthalmic manifestations of MEPAN syndrome.
Gupta PR, Gospe SM , III
Ophthalmic Genet 2023 Oct;44(5):469-474. Epub 2022 Oct 19 doi: 10.1080/13816810.2022.2135112. PMID: 36262091
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
Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.
Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF
Neurology 2013 Dec 10;81(24):2073-81. Epub 2013 Nov 6 doi: 10.1212/01.wnl.0000437308.22603.43. PMID: 24198293Free 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
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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