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Optic atrophy 16(OPA16)

MedGen UID:
1851641
•Concept ID:
C5882723
•
Disease or Syndrome
Synonym: OPA16
 
Gene (location): MECR (1p35.3)
 
Monarch Initiative: MONDO:0957978
OMIM®: 620629

Definition

Optic atrophy-16 (OPA16) is an autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment (Fiorini et al., 2023). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
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
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
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Temporal optic disc pallor
MedGen UID:
576209
•Concept ID:
C0344299
•
Disease or Syndrome
A pale yellow discoloration of the temporal (lateral) portion of the optic disc.
See: Feature record | Search on this feature
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
Visual loss
MedGen UID:
784038
•Concept ID:
C3665386
•
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

From Transcriptomics to Treatment in Inherited Optic Neuropathies.
Gilhooley MJ, Owen N, Moosajee M, Yu Wai Man P
Genes (Basel) 2021 Jan 22;12(2) doi: 10.3390/genes12020147. PMID: 33499292Free PMC Article
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Recent clinical studies

Etiology

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
Odontogenic orbital inflammation.
Costan VV, Bogdănici CM, Gheorghe L, Obadă O, Budacu C, Grigoraș C, Andronic DG, Niagu IA
Rom J Ophthalmol 2020 Apr-Jun;64(2):116-121. PMID: 32685776Free 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
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715
Childhood optic atrophy.
Mudgil AV, Repka MX
Clin Exp Ophthalmol 2000 Feb;28(1):34-7. doi: 10.1046/j.1442-9071.2000.00254.x. PMID: 11345343

Diagnosis

The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
Odontogenic orbital inflammation.
Costan VV, Bogdănici CM, Gheorghe L, Obadă O, Budacu C, Grigoraș C, Andronic DG, Niagu IA
Rom J Ophthalmol 2020 Apr-Jun;64(2):116-121. PMID: 32685776Free 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
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A
Pediatr Diabetes 2015 Feb;16(1):1-9. Epub 2014 Oct 20 doi: 10.1111/pedi.12223. PMID: 25330715

Therapy

Detecting retinal cell stress and apoptosis with DARC: Progression from lab to clinic.
Cordeiro MF, Hill D, Patel R, Corazza P, Maddison J, Younis S
Prog Retin Eye Res 2022 Jan;86:100976. Epub 2021 Jun 5 doi: 10.1016/j.preteyeres.2021.100976. PMID: 34102318
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
Current and emerging medical therapies in the treatment of glaucoma.
Bagnis A, Papadia M, Scotto R, Traverso CE
Expert Opin Emerg Drugs 2011 Jun;16(2):293-307. Epub 2011 Apr 7 doi: 10.1517/14728214.2011.563733. PMID: 21406029
4-Hydroxybutyric aciduria.
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J
Brain Dev 1994 Nov;16 Suppl:64-71. doi: 10.1016/0387-7604(94)90098-1. PMID: 7726383

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
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Odontogenic orbital inflammation.
Costan VV, Bogdănici CM, Gheorghe L, Obadă O, Budacu C, Grigoraș C, Andronic DG, Niagu IA
Rom J Ophthalmol 2020 Apr-Jun;64(2):116-121. PMID: 32685776Free PMC Article
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
Childhood optic atrophy.
Mudgil AV, Repka MX
Clin Exp Ophthalmol 2000 Feb;28(1):34-7. doi: 10.1046/j.1442-9071.2000.00254.x. PMID: 11345343

Clinical prediction guides

The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M
Neurology 2022 Oct 4;99(14):e1511-e1526. Epub 2022 Jul 18 doi: 10.1212/WNL.0000000000200927. PMID: 36192182Free PMC Article
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
Detecting retinal cell stress and apoptosis with DARC: Progression from lab to clinic.
Cordeiro MF, Hill D, Patel R, Corazza P, Maddison J, Younis S
Prog Retin Eye Res 2022 Jan;86:100976. Epub 2021 Jun 5 doi: 10.1016/j.preteyeres.2021.100976. PMID: 34102318
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
The mitochondrial connection in auditory neuropathy.
Cacace AT, Pinheiro JM
Audiol Neurootol 2011;16(6):398-413. Epub 2011 Jan 22 doi: 10.1159/000323276. PMID: 21266802

Recent systematic reviews

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free 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: 36743514Free PMC Article
Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.
Harvey JP, Sladen PE, Yu-Wai-Man P, Cheetham ME
J Neuroophthalmol 2022 Mar 1;42(1):35-44. Epub 2021 Sep 30 doi: 10.1097/WNO.0000000000001375. PMID: 34629400
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

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