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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
Management of traumatic hyphema: therapeutic options.
Crouch ER Jr, Crouch ER
J Pediatr Ophthalmol Strabismus 1999 Sep-Oct;36(5):238-50; quiz 279-80. doi: 10.3928/0191-3913-19990901-04. PMID: 10505828

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
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM
Cell Rep Med 2024 Feb 20;5(2):101383. Epub 2024 Jan 24 doi: 10.1016/j.xcrm.2023.101383. PMID: 38272025Free 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
Biotinidase deficiency in childhood.
Venkataraman V, Balaji P, Panigrahi D, Jamal R
Neurol India 2013 Jul-Aug;61(4):411-3. doi: 10.4103/0028-3886.117614. PMID: 24005734
The genetics of mitochondrial disease.
Davis RL, Sue CM
Semin Neurol 2011 Nov;31(5):519-30. Epub 2012 Jan 21 doi: 10.1055/s-0031-1299790. PMID: 22266889

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
Chloroquine retinopathy.
Ganne P, Srinivasan R
JAMA Ophthalmol 2015 May;133(5):603-4. doi: 10.1001/jamaophthalmol.2014.6127. PMID: 25974649
Biotinidase deficiency in childhood.
Venkataraman V, Balaji P, Panigrahi D, Jamal R
Neurol India 2013 Jul-Aug;61(4):411-3. doi: 10.4103/0028-3886.117614. PMID: 24005734
Ophthalmological findings in congenital cytomegalovirus infection: when to screen, when to treat?
Ghekiere S, Allegaert K, Cossey V, Van Ranst M, Cassiman C, Casteels I
J Pediatr Ophthalmol Strabismus 2012 Sep-Oct;49(5):274-82. Epub 2012 Jul 17 doi: 10.3928/01913913-20120710-03. PMID: 22800795
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM
Best Pract Res Clin Obstet Gynaecol 2012 Apr;26(2):221-32. Epub 2011 Nov 9 doi: 10.1016/j.bpobgyn.2011.08.003. PMID: 22075441

Therapy

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM
Cell Rep Med 2024 Feb 20;5(2):101383. Epub 2024 Jan 24 doi: 10.1016/j.xcrm.2023.101383. PMID: 38272025Free PMC Article
Efficacy and safety of avacincaptad pegol in patients with geographic atrophy (GATHER2): 12-month results from a randomised, double-masked, phase 3 trial.
Khanani AM, Patel SS, Staurenghi G, Tadayoni R, Danzig CJ, Eichenbaum DA, Hsu J, Wykoff CC, Heier JS, Lally DR, Monés J, Nielsen JS, Sheth VS, Kaiser PK, Clark J, Zhu L, Patel H, Tang J, Desai D, Jaffe GJ; GATHER2 trial investigators
Lancet 2023 Oct 21;402(10411):1449-1458. Epub 2023 Sep 8 doi: 10.1016/S0140-6736(23)01583-0. PMID: 37696275
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
Perspectives of drug-based neuroprotection targeting mitochondria.
Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485

Prognosis

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM
Cell Rep Med 2024 Feb 20;5(2):101383. Epub 2024 Jan 24 doi: 10.1016/j.xcrm.2023.101383. PMID: 38272025Free PMC Article
Biotinidase deficiency in childhood.
Venkataraman V, Balaji P, Panigrahi D, Jamal R
Neurol India 2013 Jul-Aug;61(4):411-3. doi: 10.4103/0028-3886.117614. PMID: 24005734
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM
Best Pract Res Clin Obstet Gynaecol 2012 Apr;26(2):221-32. Epub 2011 Nov 9 doi: 10.1016/j.bpobgyn.2011.08.003. PMID: 22075441
Multiple sclerosis in Malaysia.
Tan CT
Arch Neurol 1988 Jun;45(6):624-7. doi: 10.1001/archneur.1988.00520300042016. PMID: 3369969
Neurological abnormalities in phenylketonuria.
Pedersen HE, Birket-Smith E
Acta Neurol Scand 1974;50(5):589-98. doi: 10.1111/j.1600-0404.1974.tb02804.x. PMID: 4428957

Clinical prediction guides

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM
Cell Rep Med 2024 Feb 20;5(2):101383. Epub 2024 Jan 24 doi: 10.1016/j.xcrm.2023.101383. PMID: 38272025Free 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
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
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
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM
Best Pract Res Clin Obstet Gynaecol 2012 Apr;26(2):221-32. Epub 2011 Nov 9 doi: 10.1016/j.bpobgyn.2011.08.003. PMID: 22075441

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
Causes of low vision in children: A systematic review.
Garzón-Rodríguez MC, Reyes-Figueredo LS, Velandia-Rodríguez LÁ, Méndez-Ruiz OD, Gómez-Rodríguez MA, Esguerra-Ochoa LT, García-Lozada D
Arch Soc Esp Oftalmol (Engl Ed) 2023 Feb;98(2):83-97. Epub 2022 Sep 6 doi: 10.1016/j.oftale.2022.06.016. PMID: 36068132
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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