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Optic atrophy 15(OPA15)

MedGen UID:: 1849731
•Concept ID:: C5882716
•: Disease or Syndrome

Synonym:	OPA15

Gene (location): Gene(s) directly associated with this condition or phenotype.	MCAT (22q13.2)

Monarch Initiative:	MONDO:0957935
OMIM®:	620583

Definition

Optic atrophy-15 (OPA15) is a degenerative disorder of the retinal ganglion cells that leads to optic nerve atrophy and visual loss (summary by Gerber et al., 2021). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO

Headache

MedGen UID:: 9149
•Concept ID:: C0018681
•: Sign or Symptom

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

See: Feature record | Search on this feature

Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

See: Feature record | Search on this feature

Nystagmus

MedGen UID:: 45166
•Concept ID:: C0028738
•: Disease or Syndrome

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

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.

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Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

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.

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Dyschromatopsia

MedGen UID:: 163559
•Concept ID:: C0858618
•: Disease or Syndrome

A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.

See: Feature record | Search on this feature

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Abnormality of the eye
Abnormality of the nervous system
- Headache
- Photophobia

Professional guidelines

PubMed

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Chen AT, Brady L, Bulman DE, Sundaram ANE, Rodriguez AR, Margolin E, Waye JS, Tarnopolsky MA
PLoS One 2019;14(11):e0225656. Epub 2019 Nov 25 doi: 10.1371/journal.pone.0225656. PMID: 31765440 Free PMC Article

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Ham M, Han J, Osann K, Smith M, Kimonis V
Mitochondrion 2019 May;46:262-269. Epub 2018 Aug 27 doi: 10.1016/j.mito.2018.07.006. PMID: 30165240

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

Hanein S, Perrault I, Gerber S, Tanguy G, Rozet JM, Kaplan J
Adv Exp Med Biol 2006;572:15-20. doi: 10.1007/0-387-32442-9_3. PMID: 17249549

See all (26)

Recent clinical studies

Etiology

Metabolic impairments in neurodegeneration with brain iron accumulation.

Wydrych A, Pakuła B, Janikiewicz J, Dobosz AM, Jakubek-Olszewska P, Skowrońska M, Kurkowska-Jastrzębska I, Cwyl M, Popielarz M, Pinton P, Zavan B, Dobrzyń A, Lebiedzińska-Arciszewska M, Więckowski MR
Biochim Biophys Acta Bioenerg 2025 Jan 1;1866(1):149517. Epub 2024 Oct 2 doi: 10.1016/j.bbabio.2024.149517. PMID: 39366438

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

OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.

Cartes-Saavedra B, Lagos D, Macuada J, Arancibia D, Burté F, Sjöberg-Herrera MK, Andrés ME, Horvath R, Yu-Wai-Man P, Hajnóczky G, Eisner V
Proc Natl Acad Sci U S A 2023 Mar 21;120(12):e2207471120. Epub 2023 Mar 16 doi: 10.1073/pnas.2207471120. PMID: 36927155 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

Axonal dystrophies.

Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

See all (437)

Diagnosis

Mitochondrial optic neuropathies.

Carelli V, La Morgia C, Yu-Wai-Man P
Handb Clin Neurol 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. PMID: 36813316

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

Axonal dystrophies.

Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

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

Gaze-evoked blindness.

Hampton GR, Krohel GB
Ann Ophthalmol 1983 Jan;15(1):73-6. PMID: 6830098

See all (433)

Therapy

Efficacy and safety of avacincaptad pegol in patients with geographic atrophy (GATHER2): 12-month results from a randomised, double-masked, phase 3 trial.

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.

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

Ocular ethambutol toxicity: is it reversible?

Kumar A, Sandramouli S, Verma L, Tewari HK, Khosla PK
J Clin Neuroophthalmol 1993 Mar;13(1):15-7. PMID: 8501256

See all (141)

Prognosis

Metabolic impairments in neurodegeneration with brain iron accumulation.

Efficacy and safety of avacincaptad pegol in patients with geographic atrophy (GATHER2): 12-month results from a randomised, double-masked, phase 3 trial.

Axonal dystrophies.

Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

Infantile neurological Degos disease.

Yeo TH, Vassallo G, Judge M, Laycock N, Kelsey A, Crow YJ
Eur J Paediatr Neurol 2011 Mar;15(2):167-70. Epub 2010 Jul 24 doi: 10.1016/j.ejpn.2010.06.003. PMID: 20659809

Acute demyelinating optic neuritis: a review.

Brass SD, Zivadinov R, Bakshi R
Front Biosci 2008 Jan 1;13:2376-90. doi: 10.2741/2851. PMID: 17981719

See all (249)

Clinical prediction guides

IL-12/15/18-induced cell death and mitochondrial dynamics of human NK cells.

Terrén I, Sandá V, Amarilla-Irusta A, Lopez-Pardo A, Sevilla A, Astarloa-Pando G, Amo L, Zenarruzabeitia O, Scorrano L, Borrego F
Front Immunol 2023;14:1211839. Epub 2023 Jul 27 doi: 10.3389/fimmu.2023.1211839. PMID: 37575238 Free PMC Article

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

Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat.

Funda J, Villena JA, Bardova K, Adamcova K, Irodenko I, Flachs P, Jedlickova I, Haasova E, Rossmeisl M, Kopecky J, Janovska P
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 25 doi: 10.1242/dmm.049223. PMID: 35466996 Free PMC Article

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

Further clinical and pathological observations on Leber's optic atrophy.

Adams JH, Blackwood W, Wilson J
Brain 1966 Mar;89(1):15-26. doi: 10.1093/brain/89.1.15. PMID: 5910901

See all (270)

Recent systematic reviews

Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.

D'Esposito F, Zeppieri M, Cordeiro MF, Capobianco M, Avitabile A, Gagliano G, Musa M, Barboni P, Gagliano C
Genes (Basel) 2024 Nov 29;15(12) doi: 10.3390/genes15121559. PMID: 39766826 Free PMC Article

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.

Yuan J, Zhao J, Ye C, Pang L, Zhang X, Luk A, Du Y, Fan KY, Zhang X, Li B, Chen C
Biomed Res Int 2023;2023:1107866. Epub 2023 Jan 24 doi: 10.1155/2023/1107866. PMID: 36743514 Free PMC Article

Prevalence of Myopic Macular Features in Dutch Individuals of European Ancestry With High Myopia.

Haarman AEG, Tedja MS, Brussee C, Enthoven CA, van Rijn GA, Vingerling JR, Keunen JEE, Boon CJF, Geerards AJM, Luyten GPM, Verhoeven VJM, Klaver CCW
JAMA Ophthalmol 2022 Feb 1;140(2):115-123. doi: 10.1001/jamaophthalmol.2021.5346. PMID: 34913968 Free PMC Article

Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis.

Doxycycline plus ivermectin versus ivermectin alone for treatment of patients with onchocerciasis.

Abegunde AT, Ahuja RM, Okafor NJ
Cochrane Database Syst Rev 2016 Jan 15;2016(1):CD011146. doi: 10.1002/14651858.CD011146.pub2. PMID: 26771164 Free PMC Article

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Optic atrophy 15(OPA15)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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