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Congenital optic disk excavation

MedGen UID:
1842935
•Concept ID:
C5681348
•
Congenital Abnormality
Synonym: Congenital optic disc excavation
 
Monarch Initiative: MONDO:0850010
Orphanet: ORPHA519333

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital optic disk excavation

Professional guidelines

PubMed

Morphology of Serous Retinal Detachment in Morning Glory Optic Disc Anomaly in a Patient before and after Treatment with Systemic Carboanhydrase Inhibitors.
Sinner V, Valmaggia C, Todorova M
Klin Monbl Augenheilkd 2023 Apr;240(4):499-501. Epub 2023 Apr 25 doi: 10.1055/a-2017-5161. PMID: 37164393

Recent clinical studies

Etiology

Morning Glory Disc Anomaly: Expanding the MR Phenotype.
Firouzabadi FD, Soldatelli MD, Rameh V, Heidary G, Vargas SO, Gonzalez E, Rispoli J, Rahbar R, Robson CD
AJNR Am J Neuroradiol 2024 Aug 9;45(8):1070-1075. doi: 10.3174/ajnr.A8296. PMID: 38991766Free PMC Article
Systemic abnormalities in children with congenital optic disc excavations.
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672
Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.
Lee KM, Woo SJ, Hwang JM
Graefes Arch Clin Exp Ophthalmol 2014 Nov;252(11):1853-60. Epub 2014 Jun 7 doi: 10.1007/s00417-014-2680-9. PMID: 24906342
A classic temporal optic disc pit showing progression in the corresponding optic nerve fiber and visual field defects.
Tawara A, Miyamoto R, Tou N, Ishibashi S, Kondo H
Jpn J Ophthalmol 2013 May;57(3):263-7. Epub 2012 Dec 20 doi: 10.1007/s10384-012-0225-5. PMID: 23263695
The optic nerve head in congenital fibrosis of the extraocular muscles.
Khan AO, Shinwari J, Omar A, Khalil D, Al-Anazi M, Al-Amri A, Al-Tassan NA
Ophthalmic Genet 2011 Sep;32(3):175-80. Epub 2011 Mar 31 doi: 10.3109/13816810.2011.567318. PMID: 21449832

Diagnosis

Morning Glory Disc Anomaly: Expanding the MR Phenotype.
Firouzabadi FD, Soldatelli MD, Rameh V, Heidary G, Vargas SO, Gonzalez E, Rispoli J, Rahbar R, Robson CD
AJNR Am J Neuroradiol 2024 Aug 9;45(8):1070-1075. doi: 10.3174/ajnr.A8296. PMID: 38991766Free PMC Article
Systemic abnormalities in children with congenital optic disc excavations.
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672
Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.
Lee KM, Woo SJ, Hwang JM
Graefes Arch Clin Exp Ophthalmol 2014 Nov;252(11):1853-60. Epub 2014 Jun 7 doi: 10.1007/s00417-014-2680-9. PMID: 24906342
Evaluation of congenital optic disc pits and optic disc colobomas by swept-source optical coherence tomography.
Ohno-Matsui K, Hirakata A, Inoue M, Akiba M, Ishibashi T
Invest Ophthalmol Vis Sci 2013 Nov 25;54(12):7769-78. doi: 10.1167/iovs.13-12901. PMID: 24168988
Nonglaucomatous optic disk atrophy and excavation in the elderly.
Roodhooft JM
Bull Soc Belge Ophtalmol 2003;(287):45-9. PMID: 12784577

Therapy

Two cases of congenital retrobulbar cyst or peripapillary staphyloma with an alcoholic mother.
Kitano A, Shirai K, Okada Y, Saika S
J Pediatr Ophthalmol Strabismus 2011;48 Online:e1-5. Epub 2010 May 21 doi: 10.3928/01913913-20100218-06. PMID: 20210277
Morning glory syndrome associated with posterior pituitary ectopia and hypopituitarism.
Pierre-Filho Pde T, Limeira-Soares PH, Marcondes AM
Acta Ophthalmol Scand 2004 Feb;82(1):89-92. doi: 10.1111/j.1395-3907.2004.00214.x. PMID: 14738491

Prognosis

Morphology of Serous Retinal Detachment in Morning Glory Optic Disc Anomaly in a Patient before and after Treatment with Systemic Carboanhydrase Inhibitors.
Sinner V, Valmaggia C, Todorova M
Klin Monbl Augenheilkd 2023 Apr;240(4):499-501. Epub 2023 Apr 25 doi: 10.1055/a-2017-5161. PMID: 37164393
MMP19 expression in the human optic nerve.
Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH
Mol Vis 2016;22:1429-1436. Epub 2016 Dec 14 PMID: 28003733Free PMC Article
Evaluation of congenital optic disc pits and optic disc colobomas by swept-source optical coherence tomography.
Ohno-Matsui K, Hirakata A, Inoue M, Akiba M, Ishibashi T
Invest Ophthalmol Vis Sci 2013 Nov 25;54(12):7769-78. doi: 10.1167/iovs.13-12901. PMID: 24168988
A classic temporal optic disc pit showing progression in the corresponding optic nerve fiber and visual field defects.
Tawara A, Miyamoto R, Tou N, Ishibashi S, Kondo H
Jpn J Ophthalmol 2013 May;57(3):263-7. Epub 2012 Dec 20 doi: 10.1007/s10384-012-0225-5. PMID: 23263695

Clinical prediction guides

Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology.
Hwang ES, Morgan DJ, Pennington KL, Owen LA, Fingert JH, Bernstein PS, DeAngelis MM
BMC Med Genet 2019 Apr 27;20(1):63. doi: 10.1186/s12881-019-0800-4. PMID: 31029096Free PMC Article
MMP19 expression in the human optic nerve.
Chirco KR, Hazlewood RJ, Miller K, Workalemahu G, Jampol LM, Lesser GR, Mullins RF, Kuehn MH, Fingert JH
Mol Vis 2016;22:1429-1436. Epub 2016 Dec 14 PMID: 28003733Free PMC Article
Systemic abnormalities in children with congenital optic disc excavations.
Beby F
Curr Eye Res 2015 Apr;40(4):450-5. Epub 2014 Jun 9 doi: 10.3109/02713683.2014.925931. PMID: 24911672
Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography.
Lee KM, Woo SJ, Hwang JM
Graefes Arch Clin Exp Ophthalmol 2014 Nov;252(11):1853-60. Epub 2014 Jun 7 doi: 10.1007/s00417-014-2680-9. PMID: 24906342
Evaluation of congenital optic disc pits and optic disc colobomas by swept-source optical coherence tomography.
Ohno-Matsui K, Hirakata A, Inoue M, Akiba M, Ishibashi T
Invest Ophthalmol Vis Sci 2013 Nov 25;54(12):7769-78. doi: 10.1167/iovs.13-12901. PMID: 24168988

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