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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
 
Cytogenetic location: Xp11
OMIM®: 308905

Clinical features

Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Recent clinical studies

Etiology

Yum HR, Chae H, Shin SY, Kim Y, Kim M, Park SH
Invest Ophthalmol Vis Sci 2014 Oct 23;55(12):8095-101. doi: 10.1167/iovs.14-15311. PMID: 25342614
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
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. [Epub ahead of print] 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. [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 22400981Free PMC Article
La Russa A, Cittadella R, Andreoli V, Valentino P, Trecroci F, Caracciolo M, Gallo O, Gambardella A, Quattrone A
Mult Scler 2011 Jun;17(6):763-6. doi: 10.1177/1352458511404033. PMID: 21685233
van Westen D, Hammar B, Bynke G
J Neuroophthalmol 2011 Mar;31(1):48-51. doi: 10.1097/WNO.0b013e3181f3f203. PMID: 21157374

Therapy

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
Seo JH, Hwang JM, Park SS
Clin Experiment Ophthalmol 2010 May;38(4):363-6. Epub 2010 Feb 22 doi: 10.1111/j.1442-9071.2010.02240.x. [Epub ahead of print] 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. [Epub ahead of print] 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

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
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
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20232220

Clinical prediction guides

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. [Epub ahead of print] 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
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 20232220
Zhang AM, Zou Y, Guo X, Jia X, Zhang Q, Yao YG
Biochem Biophys Res Commun 2009 Aug 21;386(2):392-5. Epub 2009 Jun 13 doi: 10.1016/j.bbrc.2009.06.051. [Epub ahead of print] PMID: 19527690

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. [Epub ahead of print] PMID: 17123466

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