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Optic atrophy 14(OPA14)

MedGen UID:
1049906
Concept ID:
CN375629
Disease or Syndrome
Synonym: OPA14
 
Gene (location): MIEF1 (22q13.1)
 
Monarch Initiative: MONDO:0957824
OMIM®: 620550

Definition

Optic atrophy-14 (OPA14) is characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Optic discs are pale and excavated, and there is loss of the retinal nerve fiber layer on optical coherence tomography (Charif et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Professional guidelines

PubMed

Chen AT, Brady L, Bulman DE, Sundaram ANE, Rodriguez AR, Margolin E, Waye JS, Tarnopolsky MA
PLoS One 2019;14(11):e0225656. Epub 2019 Nov 25 doi: 10.1371/journal.pone.0225656. PMID: 31765440Free PMC Article
Borkowska-Kuczkowska A, Sługocka D, Świątkowska-Flis B, Boruczkowski D
Regen Med 2019 May;14(4):321-329. Epub 2019 Apr 12 doi: 10.2217/rme-2019-0022. PMID: 30977436
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515

Recent clinical studies

Etiology

Oertel FC, Sotirchos ES, Zimmermann HG, Motamedi S, Specovius S, Asseyer ES, Chien C, Cook L, Vasileiou E, Filippatou A, Calabresi PA, Saidha S, Pandit L, D'Cunha A, Outteryck O, Zéphir H, Pittock S, Flanagan EP, Bhatti MT, Rommer PS, Bsteh G, Zrzavy T, Kuempfel T, Aktas O, Ringelstein M, Albrecht P, Ayzenberg I, Pakeerathan T, Knier B, Aly L, Asgari N, Soelberg K, Marignier R, Tilikete CF, Cobo Calvo A, Villoslada P, Sanchez-Dalmau B, Martinez-Lapiscina EH, Llufriu S, Green AJ, Yeaman MR, Smith TJ, Brandt AU, Chen J, Paul F, Havla J; with the GJCF International Clinical Consortium for NMOSD and the CROCTINO study group
Ann Neurol 2022 Sep;92(3):476-485. Epub 2022 Jul 16 doi: 10.1002/ana.26440. PMID: 35703428
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
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
Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M
Prog Neurobiol 2013 Jul-Aug;106-107:33-54. Epub 2013 Jul 1 doi: 10.1016/j.pneurobio.2013.06.002. PMID: 23827971

Diagnosis

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free 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
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
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
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

Therapy

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
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
Borkowska-Kuczkowska A, Sługocka D, Świątkowska-Flis B, Boruczkowski D
Regen Med 2019 May;14(4):321-329. Epub 2019 Apr 12 doi: 10.2217/rme-2019-0022. PMID: 30977436
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article
Brown GC, Shields JA, Sanborn G, Augsburger JJ, Savino PJ, Schatz NJ
Ophthalmology 1982 Dec;89(12):1489-93. doi: 10.1016/s0161-6420(82)34612-6. PMID: 7162793

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
Lin Q, Jia Y, Li T, Wang S, Xu X, Xu Y, Lu L, Yang C, Zou H
Acta Ophthalmol 2022 Feb;100(1):e157-e166. Epub 2021 May 5 doi: 10.1111/aos.14885. PMID: 33949131Free PMC Article
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
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Claessen H, Kvitkina T, Narres M, Trautner C, Bertram B, Icks A
Graefes Arch Clin Exp Ophthalmol 2021 May;259(5):1089-1101. Epub 2020 Sep 25 doi: 10.1007/s00417-020-04885-4. PMID: 32974733

Clinical prediction guides

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free 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
Moon Y, Lim BC, Chae JH, Jung JH
Mult Scler Relat Disord 2022 Apr;60:103709. Epub 2022 Feb 22 doi: 10.1016/j.msard.2022.103709. PMID: 35220001
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
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
Haarman AEG, Tedja MS, Brussee C, Enthoven CA, van Rijn GA, Vingerling JR, Keunen JEE, Boon CJF, Geerards AJM, Luyten GPM, Verhoeven VJM, Klaver CCW
JAMA Ophthalmol 2022 Feb 1;140(2):115-123. doi: 10.1001/jamaophthalmol.2021.5346. PMID: 34913968Free 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
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article

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