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Optic atrophy 8(OPA8)

MedGen UID:
898923
Concept ID:
C4085249
Disease or Syndrome
Synonym: OPA8
 
Monarch Initiative: MONDO:0024569
OMIM®: 616648

Definition

Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormal auditory evoked potentials
MedGen UID:
141758
Concept ID:
C0522216
Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Prolonged somatosensory evoked potentials
MedGen UID:
870492
Concept ID:
C4024939
Finding
Abnormality of pattern visual evoked potentials
MedGen UID:
892912
Concept ID:
C4072946
Finding
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
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.
Central scotoma
MedGen UID:
57750
Concept ID:
C0152191
Finding
An area of depressed vision located at the point of fixation and that interferes with central vision.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Professional guidelines

PubMed

Onakpoya OH, Adeoye AO, Akinpelu OV
Orbit 2009;28(2-3):147-52. doi: 10.1080/01676830902919811. PMID: 19839899

Recent clinical studies

Etiology

Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Donaldson L, Jhaveri A, Micieli J, Margolin E
J Neurol Sci 2022 Jun 15;437:120271. Epub 2022 Apr 29 doi: 10.1016/j.jns.2022.120271. PMID: 35525063
Dalvin LA, Deufel CL, Corbin KS, Petersen IA, Olsen TW, Roddy GW
J Neuroophthalmol 2022 Mar 1;42(1):e159-e172. Epub 2021 Nov 11 doi: 10.1097/WNO.0000000000001465. PMID: 34812759Free PMC Article
Sung JY, Lee HM, Lee SB, Kim KN, Lee YH
Neurol Sci 2022 Feb;43(2):1351-1358. Epub 2021 Jul 9 doi: 10.1007/s10072-021-05448-z. PMID: 34241727
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C
Endokrynol Pol 2021;72(4):353-356. Epub 2021 May 19 doi: 10.5603/EP.a2021.0038. PMID: 34010437

Diagnosis

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
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
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C
Endokrynol Pol 2021;72(4):353-356. Epub 2021 May 19 doi: 10.5603/EP.a2021.0038. PMID: 34010437
Kerrison JB, Maumenee IH
Curr Opin Ophthalmol 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. PMID: 10176101

Therapy

Fan C, Wang JX, Xiong ZE, Hu SS, Zhou AJ, Yuan D, Zhang CC, Zhou ZY, Wang T
Pharm Biol 2023 Dec;61(1):1401-1412. doi: 10.1080/13880209.2023.2244532. PMID: 37667488Free PMC Article
Nicoară SD, Brie I, Jurj A, Sorițău O
Int J Mol Sci 2021 Oct 14;22(20) doi: 10.3390/ijms222011077. PMID: 34681739Free PMC Article
Law SK, Wang L, Li T
Cochrane Database Syst Rev 2020 Feb 7;2(2):CD006030. doi: 10.1002/14651858.CD006030.pub4. PMID: 32032457Free PMC Article
Petzold A, Balcer LJ, Calabresi PA, Costello F, Frohman TC, Frohman EM, Martinez-Lapiscina EH, Green AJ, Kardon R, Outteryck O, Paul F, Schippling S, Vermersch P, Villoslada P, Balk LJ; ERN-EYE IMSVISUAL
Lancet Neurol 2017 Oct;16(10):797-812. Epub 2017 Sep 12 doi: 10.1016/S1474-4422(17)30278-8. PMID: 28920886
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article

Prognosis

Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Donaldson L, Jhaveri A, Micieli J, Margolin E
J Neurol Sci 2022 Jun 15;437:120271. Epub 2022 Apr 29 doi: 10.1016/j.jns.2022.120271. PMID: 35525063
Sung JY, Lee HM, Lee SB, Kim KN, Lee YH
Neurol Sci 2022 Feb;43(2):1351-1358. Epub 2021 Jul 9 doi: 10.1007/s10072-021-05448-z. PMID: 34241727
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S
J Neuroophthalmol 2022 Mar 1;42(1):e147-e152. Epub 2021 Apr 14 doi: 10.1097/WNO.0000000000001249. PMID: 33870938
Shrestha P, Sitaula S, Sharma AK, Joshi P
Nepal J Ophthalmol 2021 Jan;13(25):73-81. doi: 10.3126/nepjoph.v13i1.29035. PMID: 33981100

Clinical prediction guides

Remlinger J, Bagnoud M, Meli I, Massy M, Hoepner R, Linington C, Chan A, Bennett JL, Enzmann V, Salmen A
Neurol Neuroimmunol Neuroinflamm 2023 Sep;10(5) Epub 2023 Jul 10 doi: 10.1212/NXI.0000000000200141. PMID: 37429715Free PMC Article
Phadwal K, Tang QY, Luijten I, Zhao JF, Corcoran B, Semple RK, Ganley IG, MacRae VE
Int J Mol Sci 2023 Jan 13;24(2) doi: 10.3390/ijms24021643. PMID: 36675156Free PMC Article
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Costa CBDC, Freitas D
Int Ophthalmol 2022 Oct;42(10):3117-3127. Epub 2022 May 15 doi: 10.1007/s10792-022-02311-8. PMID: 35569052
Sung JY, Lee HM, Lee SB, Kim KN, Lee YH
Neurol Sci 2022 Feb;43(2):1351-1358. Epub 2021 Jul 9 doi: 10.1007/s10072-021-05448-z. PMID: 34241727

Recent systematic reviews

Law SK, Wang L, Li T
Cochrane Database Syst Rev 2020 Feb 7;2(2):CD006030. doi: 10.1002/14651858.CD006030.pub4. PMID: 32032457Free PMC Article
Petzold A, Balcer LJ, Calabresi PA, Costello F, Frohman TC, Frohman EM, Martinez-Lapiscina EH, Green AJ, Kardon R, Outteryck O, Paul F, Schippling S, Vermersch P, Villoslada P, Balk LJ; ERN-EYE IMSVISUAL
Lancet Neurol 2017 Oct;16(10):797-812. Epub 2017 Sep 12 doi: 10.1016/S1474-4422(17)30278-8. PMID: 28920886
Pihl-Jensen G, Tsakiri A, Frederiksen JL
CNS Drugs 2015 Apr;29(4):277-91. doi: 10.1007/s40263-015-0239-x. PMID: 25795002
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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