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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

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
Treatment of Leber's Hereditary Optic Neuropathy.
Karanjia R, Chahal J, Ammar M, Sadun AA
Curr Pharm Des 2017;23(4):624-628. doi: 10.2174/1381612823666170125164856. PMID: 28128056

Recent clinical studies

Etiology

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group
Cell Rep Med 2024 Mar 19;5(3):101437. Epub 2024 Feb 29 doi: 10.1016/j.xcrm.2024.101437. PMID: 38428428Free PMC Article
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
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

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group
Cell Rep Med 2024 Mar 19;5(3):101437. Epub 2024 Feb 29 doi: 10.1016/j.xcrm.2024.101437. PMID: 38428428Free 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
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
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
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

Therapy

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group
Cell Rep Med 2024 Mar 19;5(3):101437. Epub 2024 Feb 29 doi: 10.1016/j.xcrm.2024.101437. PMID: 38428428Free PMC Article
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
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

Idiopathic intracranial hypertension in atypical demographics.
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
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
Superior segmental optic nerve hypoplasia: A review.
Wu JH, Lin CW, Liu CH, Weinreb RN, Welsbie DS
Surv Ophthalmol 2022 Sep-Oct;67(5):1467-1475. Epub 2022 Feb 18 doi: 10.1016/j.survophthal.2022.02.008. PMID: 35189184
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

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
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
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

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor Other Hyperkinet Mov (N Y) 2023;13:36. Epub 2023 Oct 6 doi: 10.5334/tohm.801. PMID: 37810989Free PMC Article
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM, Di Candia F, Occhiati L, Fedi L, Malvone FP, Foschini DF, Franzese A, Mozzillo E
Int J Environ Res Public Health 2022 Jan 12;19(2) doi: 10.3390/ijerph19020835. PMID: 35055657Free 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
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
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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      Clinical tests in GTR
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