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Optic atrophy 5(OPA5)

MedGen UID:
377837
•Concept ID:
C1853139
•
Disease or Syndrome
Synonym: OPA5
 
Gene (location): DNM1L (12p11.21)
 
Monarch Initiative: MONDO:0012543
OMIM®: 610708

Definition

OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO
Abnormality of pattern visual evoked potentials
MedGen UID:
892912
•Concept ID:
C4072946
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Blue color blindness
MedGen UID:
57827
•Concept ID:
C0155017
•
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
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
Slow decrease in visual acuity
MedGen UID:
343976
•Concept ID:
C1853141
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment With Erythropoietin for Patients With Optic Neuritis: Long-term Follow-up.
Küchlin S, Ihorst G, Grotejohann B, Beisse F, Heinrich SP, Albrecht P, Ungewiss J, Wörner M, Hug MJ, Wolf S, Diem R, Lagrèze WA; TONE Study Group
Neurol Neuroimmunol Neuroinflamm 2023 Jul;10(4) Epub 2023 Apr 24 doi: 10.1212/NXI.0000000000200067. PMID: 37094997Free PMC Article
Metabolic Treatment of Wolfram Syndrome.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, Miraglia Del Giudice E
Int J Environ Res Public Health 2022 Feb 27;19(5) doi: 10.3390/ijerph19052755. PMID: 35270448Free PMC Article
Ophthalmological management in craniosynostosis.
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284

Recent clinical studies

Etiology

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
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 Neuropathy in Charcot-Marie-Tooth Disease.
Hamedani AG, Wilson JA, Avery RA, Scherer SS
J Neuroophthalmol 2021 Jun 1;41(2):233-238. doi: 10.1097/WNO.0000000000000965. PMID: 32441898
Therapeutic Approaches to Inherited Optic Neuropathies.
Yu-Wai-Man P
Semin Neurol 2015 Oct;35(5):578-86. Epub 2015 Oct 6 doi: 10.1055/s-0035-1563574. PMID: 26444403
Neurotoxicity of cobalt.
Catalani S, Rizzetti MC, Padovani A, Apostoli P
Hum Exp Toxicol 2012 May;31(5):421-37. Epub 2011 Jul 5 doi: 10.1177/0960327111414280. PMID: 21729976

Diagnosis

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 Neuropathy in Charcot-Marie-Tooth Disease.
Hamedani AG, Wilson JA, Avery RA, Scherer SS
J Neuroophthalmol 2021 Jun 1;41(2):233-238. doi: 10.1097/WNO.0000000000000965. PMID: 32441898
The Eye on Mitochondrial Disorders.
Finsterer J, Zarrouk-Mahjoub S, Daruich A
J Child Neurol 2016 Apr;31(5):652-62. Epub 2015 Aug 14 doi: 10.1177/0883073815599263. PMID: 26275973
Chloroquine retinopathy.
Ganne P, Srinivasan R
JAMA Ophthalmol 2015 May;133(5):603-4. doi: 10.1001/jamaophthalmol.2014.6127. PMID: 25974649
Strabismus in craniosynostosis.
Lehman S
Curr Opin Ophthalmol 2006 Oct;17(5):432-4. doi: 10.1097/01.icu.0000243017.90004.5b. PMID: 16932059

Therapy

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.
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
Epidemiology of Myopia.
Wu PC, Huang HM, Yu HJ, Fang PC, Chen CT
Asia Pac J Ophthalmol (Phila) 2016 Nov/Dec;5(6):386-393. doi: 10.1097/APO.0000000000000236. PMID: 27898441
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
Neurotoxicity of cobalt.
Catalani S, Rizzetti MC, Padovani A, Apostoli P
Hum Exp Toxicol 2012 May;31(5):421-37. Epub 2011 Jul 5 doi: 10.1177/0960327111414280. PMID: 21729976

Prognosis

Metabolic Treatment of Wolfram Syndrome.
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, Miraglia Del Giudice E
Int J Environ Res Public Health 2022 Feb 27;19(5) doi: 10.3390/ijerph19052755. PMID: 35270448Free PMC Article
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
Updates of pathologic myopia.
Ohno-Matsui K, Lai TY, Lai CC, Cheung CM
Prog Retin Eye Res 2016 May;52:156-87. Epub 2016 Jan 6 doi: 10.1016/j.preteyeres.2015.12.001. PMID: 26769165
Bardet-Biedl syndrome.
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213
Optic nerve sheath meningiomas.
Dutton JJ
Surv Ophthalmol 1992 Nov-Dec;37(3):167-83. doi: 10.1016/0039-6257(92)90135-g. PMID: 1475751

Clinical prediction guides

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.
Newman NJ, Yu-Wai-Man P, Subramanian PS, Moster ML, Wang AG, Donahue SP, Leroy BP, Carelli V, Biousse V, Vignal-Clermont C, Sergott RC, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Bazin F, Roux M, Cox ED, Taiel M, Sahel JA; LHON REFLECT Study Group
Brain 2023 Apr 19;146(4):1328-1341. doi: 10.1093/brain/awac421. PMID: 36350566Free PMC Article
Asymmetric diabetic retinopathy.
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Neuro-Ophthalmic Manifestations of Intracranial Malignancies.
Dermarkarian CR, Kini AT, Al Othman BA, Lee AG
J Neuroophthalmol 2020 Sep;40(3):e31-e48. doi: 10.1097/WNO.0000000000000950. PMID: 32282510
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R
Brain 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. PMID: 28459997Free PMC Article
SIRT5 regulation of ammonia-induced autophagy and mitophagy.
Polletta L, Vernucci E, Carnevale I, Arcangeli T, Rotili D, Palmerio S, Steegborn C, Nowak T, Schutkowski M, Pellegrini L, Sansone L, Villanova L, Runci A, Pucci B, Morgante E, Fini M, Mai A, Russo MA, Tafani M
Autophagy 2015;11(2):253-70. doi: 10.1080/15548627.2015.1009778. PMID: 25700560Free PMC Article

Recent systematic reviews

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
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.
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
Medical interventions for traumatic hyphema.
Gharaibeh A, Savage HI, Scherer RW, Goldberg MF, Lindsley K
Cochrane Database Syst Rev 2013 Dec 3;12(12):CD005431. doi: 10.1002/14651858.CD005431.pub3. PMID: 24302299Free 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
Medical interventions for traumatic hyphema.
Gharaibeh A, Savage HI, Scherer RW, Goldberg MF, Lindsley K
Cochrane Database Syst Rev 2011 Jan 19;(1):CD005431. doi: 10.1002/14651858.CD005431.pub2. PMID: 21249670Free PMC Article

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