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Autosomal dominant optic atrophy and peripheral neuropathy

MedGen UID:
799432
•Concept ID:
CN201872
•
Disease or Syndrome
Synonym: autosomal dominant optic atrophy and peripheral neuropathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016646
Orphanet: ORPHA250932

Definition

A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant optic atrophy and peripheral neuropathy
Follow this link to review classifications for Autosomal dominant optic atrophy and peripheral neuropathy in Orphanet.

Professional guidelines

PubMed

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ
Ophthalmology 2011 Mar;118(3):558-63. Epub 2010 Oct 30 doi: 10.1016/j.ophtha.2010.07.029. PMID: 21036400Free PMC Article

Recent clinical studies

Etiology

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332Free PMC Article
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H
J Neurol Neurosurg Psychiatry 2014 May;85(5):486-92. Epub 2013 Nov 6 doi: 10.1136/jnnp-2013-306387. PMID: 24198383Free PMC Article
Genetic and phenotypic variability of optic neuropathies.
Neuhann T, Rautenstrauss B
Expert Rev Neurother 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. PMID: 23545052
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G
J Neurol Sci 2012 Jul 15;318(1-2):1-18. Epub 2012 May 1 doi: 10.1016/j.jns.2012.03.025. PMID: 22554690
Hereditary optic neuropathies.
Newman NJ, Biousse V
Eye (Lond) 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591. PMID: 15534600

Diagnosis

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
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep 2016 Jul;14(1):33-40. Epub 2016 May 4 doi: 10.3892/mmr.2016.5209. PMID: 27150940Free PMC Article
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G
J Neurol Sci 2012 Jul 15;318(1-2):1-18. Epub 2012 May 1 doi: 10.1016/j.jns.2012.03.025. PMID: 22554690
Unexplained visual loss.
Buono LM, Foroozan R, Sergott RC
Surv Ophthalmol 2003 Nov-Dec;48(6):626-30. doi: 10.1016/j.survophthal.2003.08.007. PMID: 14609708

Therapy

Ethambutol toxicity exacerbating the phenotype of CMT2A2.
Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, Kissel JT, Lawson VH
Muscle Nerve 2013 Jul;48(1):140-4. Epub 2013 Jun 4 doi: 10.1002/mus.23766. PMID: 23733358

Prognosis

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep 2016 Jul;14(1):33-40. Epub 2016 May 4 doi: 10.3892/mmr.2016.5209. PMID: 27150940Free PMC Article
Mitochondrial dynamics and inherited peripheral nerve diseases.
Pareyson D, Saveri P, Sagnelli A, Piscosquito G
Neurosci Lett 2015 Jun 2;596:66-77. Epub 2015 Apr 3 doi: 10.1016/j.neulet.2015.04.001. PMID: 25847151
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S
J Neurol 2014 Dec;261(12):2275-82. Epub 2014 Sep 9 doi: 10.1007/s00415-014-7481-x. PMID: 25201222
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

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
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D
Orphanet J Rare Dis 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. PMID: 28494813Free PMC Article
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Genetic and phenotypic variability of optic neuropathies.
Neuhann T, Rautenstrauss B
Expert Rev Neurother 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. PMID: 23545052
Hereditary optic neuropathies.
Newman NJ, Biousse V
Eye (Lond) 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591. PMID: 15534600

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