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Optic nerve glioma

MedGen UID:
138056
Concept ID:
C0346326
Neoplastic Process
Synonym: Optic glioma
SNOMED CT: Optic glioma (254976006); Optic nerve glioma (254976006)
 
HPO: HP:0009734

Definition

A glioma originating in the optic nerve or optic chiasm. [from HPO]

Conditions with this feature

Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Tuberous sclerosis 1
MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical dysplasias, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Neurofibromatosis-Noonan syndrome
MedGen UID:
419089
Concept ID:
C2931482
Disease or Syndrome
A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity.
Chromosome 17q11.2 deletion syndrome, 1.4 MB
MedGen UID:
462278
Concept ID:
C3150928
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Recent clinical studies

Etiology

Mohammad AEA
Ophthalmic Plast Reconstr Surg 2020 Jul/Aug;36(4):399-402. doi: 10.1097/IOP.0000000000001577. PMID: 31917767
Eid H, Crevier-Sorbo G, Aldraihem A, Menegotto F, Wilson N
AJR Am J Roentgenol 2019 Apr;212(4):892-898. Epub 2019 Feb 11 doi: 10.2214/AJR.18.20044. PMID: 30741560
Hamideh D, Hoehn ME, Harreld JH, Klimo PD, Gajjar A, Qaddoumi I
J Child Neurol 2018 May;33(6):375-382. Epub 2018 Mar 5 doi: 10.1177/0883073818758737. PMID: 29502465
Borghei-Razavi H, Shibao S, Schick U
Neurosurg Rev 2017 Jan;40(1):135-141. Epub 2016 May 26 doi: 10.1007/s10143-016-0747-2. PMID: 27230830
Cameron JD, Rodriguez FJ, Rushing E, Horkayne-Szakaly I, Eberhart C
Trans Am Ophthalmol Soc 2014;112:11-25. PMID: 25411512Free PMC Article

Diagnosis

Chotard G, Farah E, Lecler A
Ophthalmology 2021 Mar;128(3):392. doi: 10.1016/j.ophtha.2020.10.004. PMID: 33612164
Bhatti MT, Mansukhani SA, Chen JJ
Ophthalmology 2020 Jul;127(7):930. doi: 10.1016/j.ophtha.2020.03.017. PMID: 32564817
Hamideh D, Hoehn ME, Harreld JH, Klimo PD, Gajjar A, Qaddoumi I
J Child Neurol 2018 May;33(6):375-382. Epub 2018 Mar 5 doi: 10.1177/0883073818758737. PMID: 29502465
Surchev JK, Nachev S, Todorova LP, Marinov M
J Neurol Surg A Cent Eur Neurosurg 2018 May;79(3):268-272. Epub 2018 Jan 2 doi: 10.1055/s-0037-1608869. PMID: 29294511
Nair AG, Pathak RS, Iyer VR, Gandhi RA
Int Ophthalmol 2014 Aug;34(4):999-1005. Epub 2014 Apr 16 doi: 10.1007/s10792-014-9942-8. PMID: 24736941

Therapy

Campbell AA, Gartrell-Corrado RD, Mansukhani M, Zanazzi G, Canoll P, Garvin JH, Kazim M
JAMA Ophthalmol 2020 Jan 1;138(1):102-104. doi: 10.1001/jamaophthalmol.2019.4511. PMID: 31697302
Revere KE, Katowitz WR, Katowitz JA, Rorke-Adams L, Fisher MJ, Liu GT
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S107-S109. doi: 10.1097/IOP.0000000000000687. PMID: 27046034
Nair AG, Pathak RS, Iyer VR, Gandhi RA
Int Ophthalmol 2014 Aug;34(4):999-1005. Epub 2014 Apr 16 doi: 10.1007/s10792-014-9942-8. PMID: 24736941
Jeon S, Lee NY, Park CK
Korean J Ophthalmol 2010 Aug;24(4):252-5. Epub 2010 Aug 3 doi: 10.3341/kjo.2010.24.4.252. PMID: 20714392Free PMC Article
Walrath JD, Engelbert M, Kazim M
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):473-5. doi: 10.1097/IOP.0b013e31818beed9. PMID: 19033845

Prognosis

Hamideh D, Hoehn ME, Harreld JH, Klimo PD, Gajjar A, Qaddoumi I
J Child Neurol 2018 May;33(6):375-382. Epub 2018 Mar 5 doi: 10.1177/0883073818758737. PMID: 29502465
Revere KE, Katowitz WR, Katowitz JA, Rorke-Adams L, Fisher MJ, Liu GT
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S107-S109. doi: 10.1097/IOP.0000000000000687. PMID: 27046034
Cameron JD, Rodriguez FJ, Rushing E, Horkayne-Szakaly I, Eberhart C
Trans Am Ophthalmol Soc 2014;112:11-25. PMID: 25411512Free PMC Article
Han SR, Kim KN, Yee GT, Choi CY, Lee DJ, Sohn MJ, Lee CH
Childs Nerv Syst 2013 May;29(5):867-71. Epub 2013 Jan 22 doi: 10.1007/s00381-013-2031-x. PMID: 23338672
Chen A, Yoon MK, Haugh S, Phan LT, Song J, McCulley TJ
J Neuroophthalmol 2013 Mar;33(1):51-3. doi: 10.1097/WNO.0b013e3182745090. PMID: 23149617

Clinical prediction guides

Eid H, Crevier-Sorbo G, Aldraihem A, Menegotto F, Wilson N
AJR Am J Roentgenol 2019 Apr;212(4):892-898. Epub 2019 Feb 11 doi: 10.2214/AJR.18.20044. PMID: 30741560
Surchev JK, Nachev S, Todorova LP, Marinov M
J Neurol Surg A Cent Eur Neurosurg 2018 May;79(3):268-272. Epub 2018 Jan 2 doi: 10.1055/s-0037-1608869. PMID: 29294511
Borghei-Razavi H, Shibao S, Schick U
Neurosurg Rev 2017 Jan;40(1):135-141. Epub 2016 May 26 doi: 10.1007/s10143-016-0747-2. PMID: 27230830
Cameron JD, Rodriguez FJ, Rushing E, Horkayne-Szakaly I, Eberhart C
Trans Am Ophthalmol Soc 2014;112:11-25. PMID: 25411512Free PMC Article
Spicer GJ, Kazim M, Glass LR, Harris GJ, Miller NR, Rootman J, Sullivan TJ
Ophthalmic Plast Reconstr Surg 2013 Jul-Aug;29(4):277-80. doi: 10.1097/IOP.0b013e318291658e. PMID: 23715516

Recent systematic reviews

Thirunavu VM, Mohammad LM, Kandula V, Beestrum M, Lam SK
J Pediatr Hematol Oncol 2021 May 1;43(4):135-143. doi: 10.1097/MPH.0000000000002060. PMID: 33480655
Hill CS, Devesa SC, Ince W, Borg A, Aquilina K
Childs Nerv Syst 2020 Sep;36(9):1869-1886. Epub 2020 Jun 18 doi: 10.1007/s00381-020-04724-1. PMID: 32556546Free PMC Article
Moreno L, Bautista F, Ashley S, Duncan C, Zacharoulis S
Eur J Cancer 2010 Aug;46(12):2253-9. Epub 2010 Apr 17 doi: 10.1016/j.ejca.2010.03.028. PMID: 20400294
Opocher E, Kremer LC, Da Dalt L, van de Wetering MD, Viscardi E, Caron HN, Perilongo G
Eur J Cancer 2006 Aug;42(12):1807-16. Epub 2006 Jun 30 doi: 10.1016/j.ejca.2006.02.022. PMID: 16809032

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