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Optic atrophy 14(OPA14)

MedGen UID:
1851745
•Concept ID:
C5882708
•
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]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Mitochondrial structure and function adaptation in residual triple negative breast cancer cells surviving chemotherapy treatment.
Baek ML, Lee J, Pendleton KE, Berner MJ, Goff EB, Tan L, Martinez SA, Mahmud I, Wang T, Meyer MD, Lim B, Barrish JP, Porter W, Lorenzi PL, Echeverria GV
Oncogene 2023 Mar;42(14):1117-1131. Epub 2023 Feb 22 doi: 10.1038/s41388-023-02596-8. PMID: 36813854Free PMC Article
An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
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
The use of mesenchymal stem cells for the treatment of progressive retinal diseases: a review.
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

Recent clinical studies

Etiology

Optic Nerve Atrophy in Syndromic Craniosynostosis.
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
Wolfram syndrome: Portuguese research.
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
Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.
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
Acupuncture for glaucoma.
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article
Optic neuropathies. An overview.
Van Stavern GP, Newman NJ
Ophthalmol Clin North Am 2001 Mar;14(1):61-71, viii. PMID: 11370572

Diagnosis

The Phenotypic Continuum of ATP1A3-Related Disorders.
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
Optic Nerve Atrophy in Syndromic Craniosynostosis.
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
Wolfram syndrome: Portuguese research.
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
Optic neuropathies. An overview.
Van Stavern GP, Newman NJ
Ophthalmol Clin North Am 2001 Mar;14(1):61-71, viii. PMID: 11370572
Radiation optic neuropathy.
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

Therapy

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.
Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, Mozzillo E
Ital J Pediatr 2023 Nov 30;49(1):158. doi: 10.1186/s13052-023-01553-1. PMID: 38037112Free PMC Article
Acupuncture for glaucoma.
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
The use of mesenchymal stem cells for the treatment of progressive retinal diseases: a review.
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
Acupuncture for glaucoma.
Law SK, Li T
Cochrane Database Syst Rev 2013 May 31;5(5):CD006030. doi: 10.1002/14651858.CD006030.pub3. PMID: 23728656Free PMC Article
Radiation optic neuropathy.
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

Association of retinal vessel pathology and brain atrophy in relapsing-remitting multiple sclerosis.
Romahn EF, Wiltgen T, Bussas M, Aly L, Wicklein R, Noll C, Berthele A, Dehmelt V, Mardin C, Zimmer C, Korn T, Hemmer B, Kirschke JS, Mühlau M, Knier B
Front Immunol 2023;14:1284986. Epub 2023 Nov 28 doi: 10.3389/fimmu.2023.1284986. PMID: 38090586Free PMC Article
Optic Nerve Atrophy in Syndromic Craniosynostosis.
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
Neuro-Ophthalmic Phenotype of OPA3.
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
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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
Ocular features of multiple system atrophy.
Garcia MD, Pulido JS, Coon EA, Chen JJ
J Clin Neurosci 2018 Jan;47:234-239. Epub 2017 Oct 21 doi: 10.1016/j.jocn.2017.10.028. PMID: 29066238

Clinical prediction guides

Association of retinal vessel pathology and brain atrophy in relapsing-remitting multiple sclerosis.
Romahn EF, Wiltgen T, Bussas M, Aly L, Wicklein R, Noll C, Berthele A, Dehmelt V, Mardin C, Zimmer C, Korn T, Hemmer B, Kirschke JS, Mühlau M, Knier B
Front Immunol 2023;14:1284986. Epub 2023 Nov 28 doi: 10.3389/fimmu.2023.1284986. PMID: 38090586Free PMC Article
Mitochondrial structure and function adaptation in residual triple negative breast cancer cells surviving chemotherapy treatment.
Baek ML, Lee J, Pendleton KE, Berner MJ, Goff EB, Tan L, Martinez SA, Mahmud I, Wang T, Meyer MD, Lim B, Barrish JP, Porter W, Lorenzi PL, Echeverria GV
Oncogene 2023 Mar;42(14):1117-1131. Epub 2023 Feb 22 doi: 10.1038/s41388-023-02596-8. PMID: 36813854Free PMC Article
The Phenotypic Continuum of ATP1A3-Related Disorders.
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
Optic Nerve Atrophy in Syndromic Craniosynostosis.
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
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
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

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
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
Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.
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
Acupuncture for glaucoma.
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
Acupuncture for glaucoma.
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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