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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
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.
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.
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).
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.
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.
Slow decrease in visual acuity
MedGen UID:
343976
Concept ID:
C1853141
Finding

Professional guidelines

PubMed

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
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
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

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
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
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
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
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

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
Ganne P, Srinivasan R
JAMA Ophthalmol 2015 May;133(5):603-4. doi: 10.1001/jamaophthalmol.2014.6127. PMID: 25974649
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
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
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

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
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
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
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
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

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
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
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
Tan CT
Arch Neurol 1988 Jun;45(6):624-7. doi: 10.1001/archneur.1988.00520300042016. PMID: 3369969
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

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
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
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
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
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

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
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
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
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
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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