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Optic atrophy 5(OPA5)

MedGen UID:: 377837
•Concept ID:: C1853139
•: Disease or Syndrome

Synonym:	OPA5

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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).

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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.

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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.

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Slow decrease in visual acuity

MedGen UID:: 343976
•Concept ID:: C1853141
•: Finding

See: Feature record | Search on this feature

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Abnormality of the eye
Abnormality of the nervous system
- Abnormality of pattern visual evoked potentials

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: 37094997 Free 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: 35270448 Free 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

See all (71)

Recent clinical studies

Etiology

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Paprocka J, Jezela-Stanek A, Śmigiel R, Walczak A, Mierzewska H, Kutkowska-Kaźmierczak A, Płoski R, Emich-Widera E, Steinborn B
Genes (Basel) 2023 Apr 25;14(5) doi: 10.3390/genes14050972. PMID: 37239332 Free 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: 36350566 Free PMC Article

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

Rocatcher A, Desquiret-Dumas V, Charif M, Ferré M, Gohier P, Mirebeau-Prunier D, Verny C, Milea D, Lenaers G; HON Collaborators Group, Bonneau D, Reynier P, Amati-Bonneau P
Brain 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395. PMID: 36317462

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

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

See all (888)

Diagnosis

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

Metabolic Treatment of Wolfram Syndrome.

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

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: 34708738 Free PMC Article

Strabismus in craniosynostosis.

Lehman S
Curr Opin Ophthalmol 2006 Oct;17(5):432-4. doi: 10.1097/01.icu.0000243017.90004.5b. PMID: 16932059

See all (1020)

Therapy

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.

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: 23728656 Free 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

See all (344)

Prognosis

Treatment With Erythropoietin for Patients With Optic Neuritis: Long-term Follow-up.

Metabolic Treatment of Wolfram Syndrome.

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

See all (485)

Clinical prediction guides

p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification.

Phadwal K, Tang QY, Luijten I, Zhao JF, Corcoran B, Semple RK, Ganley IG, MacRae VE
Int J Mol Sci 2023 Jan 13;24(2) doi: 10.3390/ijms24021643. PMID: 36675156 Free PMC Article

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy.

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: 34708738 Free 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

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: 25700560 Free PMC Article

See all (557)