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Leber optic atrophy, susceptibility to(LOAS)

MedGen UID:
374333
Concept ID:
C1839891
Finding
Synonyms: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF; LHON, MODIFIER OF; LOAS
Modes of inheritance:
X-linked inheritance
MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
 
Cytogenetic location: Xp11
OMIM®: 308905

Clinical features

Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Leber optic atrophy
MedGen UID:
182973
Concept ID:
C0917796
Disease or Syndrome
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes (including mitochondrial recessive ataxia syndrome (MIRAS) resulting from mutation of the nuclear gene POLG, which has emerged as a major cause of mitochondrial disease. Common clinical features of mitochondrial disease – whether involving a mitochondrial or nuclear gene – include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized.

Recent clinical studies

Etiology

Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX
Hum Mol Genet 2016 Aug 15;25(16):3613-3625. Epub 2016 Jul 17 doi: 10.1093/hmg/ddw199. PMID: 27427386
Ji F, Sharpley MS, Derbeneva O, Alves LS, Qian P, Wang Y, Chalkia D, Lvova M, Xu J, Yao W, Simon M, Platt J, Xu S, Angelin A, Davila A, Huang T, Wang PH, Chuang LM, Moore LG, Qian G, Wallace DC
Proc Natl Acad Sci U S A 2012 May 8;109(19):7391-6. Epub 2012 Apr 18 doi: 10.1073/pnas.1202484109. PMID: 22517755Free PMC Article
Zhang AM, Jia X, Guo X, Zhang Q, Yao YG
J Transl Med 2012 Mar 9;10:43. doi: 10.1186/1479-5876-10-43. PMID: 22400981Free PMC Article
Kaewsutthi S, Phasukkijwatana N, Joyjinda Y, Chuenkongkaew W, Kunhapan B, Tun AW, Suktitipat B, Lertrit P
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4742-8. doi: 10.1167/iovs.10-5816. PMID: 21398275
Yu D, Jia X, Zhang AM, Guo X, Zhang YP, Zhang Q, Yao YG
Neurogenetics 2010 Jul;11(3):349-56. Epub 2010 Mar 16 doi: 10.1007/s10048-010-0236-7. PMID: 20232220

Diagnosis

Rezvani Z, Didari E, Arastehkani A, Ghodsinejad V, Aryani O, Kamalidehghan B, Houshmand M
Mol Biol Rep 2013 Dec;40(12):6837-41. Epub 2013 Oct 24 doi: 10.1007/s11033-013-2801-2. PMID: 24158608
Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX
Invest Ophthalmol Vis Sci 2012 Jul 9;53(8):4586-94. doi: 10.1167/iovs.11-9109. PMID: 22577081Free PMC Article
Zhang AM, Jia X, Guo X, Zhang Q, Yao YG
J Transl Med 2012 Mar 9;10:43. doi: 10.1186/1479-5876-10-43. PMID: 22400981Free PMC Article
van Westen D, Hammar B, Bynke G
J Neuroophthalmol 2011 Mar;31(1):48-51. doi: 10.1097/WNO.0b013e3181f3f203. PMID: 21157374
Sanchez RN, Smith AJ, Carelli V, Sadun AA, Keltner JL
J Neuroophthalmol 2006 Dec;26(4):268-72. doi: 10.1097/01.wno.0000249320.27110.ab. PMID: 17204920

Therapy

Lopez Sanchez MI, Crowston JG, Mackey DA, Trounce IA
Pharmacol Ther 2016 Sep;165:132-52. Epub 2016 Jun 8 doi: 10.1016/j.pharmthera.2016.06.004. PMID: 27288727
Seo JH, Hwang JM, Park SS
Clin Exp Ophthalmol 2010 May;38(4):363-6. Epub 2010 Feb 22 doi: 10.1111/j.1442-9071.2010.02240.x. PMID: 20491810
Sanchez RN, Smith AJ, Carelli V, Sadun AA, Keltner JL
J Neuroophthalmol 2006 Dec;26(4):268-72. doi: 10.1097/01.wno.0000249320.27110.ab. PMID: 17204920
Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX
Biochem Biophys Res Commun 2006 Feb 3;340(1):69-75. Epub 2005 Dec 6 doi: 10.1016/j.bbrc.2005.11.150. PMID: 16364244
Qu J, Li R, Tong Y, Hu Y, Zhou X, Qian Y, Lu F, Guan MX
Biochem Biophys Res Commun 2005 Mar 25;328(4):1139-45. doi: 10.1016/j.bbrc.2005.01.062. PMID: 15707996

Prognosis

Ji Y, Liang M, Zhang J, Zhu L, Zhang Z, Fu R, Liu X, Zhang M, Fu Q, Zhao F, Tong Y, Sun Y, Jiang P, Guan MX
Invest Ophthalmol Vis Sci 2016 May 1;57(6):2377-89. doi: 10.1167/iovs.16-19243. PMID: 27177320
Liang M, Jiang P, Li F, Zhang J, Ji Y, He Y, Xu M, Zhu J, Meng X, Zhao F, Tong Y, Liu X, Sun Y, Zhou X, Mo JQ, Qu J, Guan MX
Invest Ophthalmol Vis Sci 2014 Mar 6;55(3):1321-31. doi: 10.1167/iovs.13-13011. PMID: 24398099
Kaewsutthi S, Phasukkijwatana N, Joyjinda Y, Chuenkongkaew W, Kunhapan B, Tun AW, Suktitipat B, Lertrit P
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4742-8. doi: 10.1167/iovs.10-5816. PMID: 21398275
Yu-Wai-Man P, Griffiths PG, Chinnery PF
Prog Retin Eye Res 2011 Mar;30(2):81-114. Epub 2010 Nov 26 doi: 10.1016/j.preteyeres.2010.11.002. PMID: 21112411Free PMC Article
Yu D, Jia X, Zhang AM, Guo X, Zhang YP, Zhang Q, Yao YG
Neurogenetics 2010 Jul;11(3):349-56. Epub 2010 Mar 16 doi: 10.1007/s10048-010-0236-7. PMID: 20232220

Clinical prediction guides

Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX
Hum Mol Genet 2016 Aug 15;25(16):3613-3625. Epub 2016 Jul 17 doi: 10.1093/hmg/ddw199. PMID: 27427386
Yu-Wai-Man P, Griffiths PG, Chinnery PF
Prog Retin Eye Res 2011 Mar;30(2):81-114. Epub 2010 Nov 26 doi: 10.1016/j.preteyeres.2010.11.002. PMID: 21112411Free PMC Article
Yu D, Jia X, Zhang AM, Guo X, Zhang YP, Zhang Q, Yao YG
Neurogenetics 2010 Jul;11(3):349-56. Epub 2010 Mar 16 doi: 10.1007/s10048-010-0236-7. PMID: 20232220
Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM
Ophthalmic Genet 2008 Mar;29(1):17-24. doi: 10.1080/13816810701867607. PMID: 18363168
La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V
Neurology 2008 Mar 4;70(10):762-70. Epub 2008 Jan 23 doi: 10.1212/01.wnl.0000295505.74234.d0. PMID: 18216301

Recent systematic reviews

Bandelt HJ, Yao YG, Salas A, Kivisild T, Bravi CM
Biochem Biophys Res Commun 2007 Jan 12;352(2):283-91. Epub 2006 Nov 3 doi: 10.1016/j.bbrc.2006.10.131. PMID: 17123466

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