scholarly journals LGG-10. AN UNUSUAL PRESENTATION OF BILATERAL OPTIC NERVE GLIOMA IN CROUZON SYNDROME

2021 ◽  
Vol 23 (Supplement_1) ◽  
pp. i33-i33
Author(s):  
Brian Na ◽  
Anthony C Wang ◽  
Christopher Travis Watterson ◽  
Julian A Martinez-Agosto ◽  
Sulagna Saitta ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Optic Atrophy ◽  
Low Grade ◽  
Optic Pathway ◽  
Crouzon Syndrome ◽  
Optic Nerve Glioma ◽  
Autosomal Dominant Disorder ◽  
Low Grade Gliomas ◽  
Optic Pathway Gliomas

Abstract Optic pathway gliomas (OPGs) are low grade gliomas intrinsic to the visual pathway, frequently associated with Neurofibromatosis Type 1 (NF-1). Bilateral OPGs without chiasmatic involvement are almost pathognomonic for NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month old male patient with craniosynostosis and Crouzon Syndrome, an autosomal dominant disorder caused by activating FGFR2 mutations associated with craniosynostosis and optic atrophy. The patient’s c.1032 G>A pathogenic variant in FGFR2 is a variant known to affect splicing and results in a protein that lacks part of an important domain involved in ligand binding. Although FGFR1 mutations have been implicated in low-grade glioma through MAPK activation, FGFR2 mutations have not yet been described in OPGs, although they have been described in epileptogenic low-grade gliomas and mixed neuronal-glial tumors. Our patient presented with worsening vision in the setting of known Crouzon Syndrome. An eye examination revealed bilateral primary optic atrophy. Brain and orbital MRIs demonstrated fusiform dilation and STIR hyperintensity of the intraorbital segments of the optic nerves bilaterally with normal pre-chiasmatic optic segments. There were no other radiographic or physical stigmata suggestive of NF-1. Next generation sequencing and copy number analysis from peripheral blood were negative for variants in NF1. RNA based studies for NF1 aberrations are pending. Although follow up MRI scans demonstrated stable size of his OPGs, the risk of further visual deficit was considered significant due to his pre-existing optic atrophy and poor baseline visual acuity. Therefore, he was started on vincristine and carboplatin chemotherapy according to A9952, and induction therapy has been well tolerated. To our knowledge, this is the first patient with Crouzon Syndrome who has developed bilateral optic pathway gliomas. Orbital MRIs should be considered for these patients with worsening visual acuity not explained by other causes.

Carboplatin treatment of progressive optic pathway gliomas to delay radiotherapy

1993 ◽  
Vol 79 (2) ◽  
pp. 223-227 ◽  
Author(s):  
Albert Moghrabi ◽  
Henry S. Friedman ◽  
Peter C. Burger ◽  
Robert Tien ◽  
W. Jerry Oakes
Keyword(s):  
Low Grade ◽  
Optic Pathway ◽  
Radiographic Evidence ◽  
Content Type ◽  
The Third ◽  
Arrest Growth ◽  
Unacceptable Toxicity ◽  
Optic Pathway Gliomas ◽  
Fine Print ◽  
Do So

✓ Six patients with optic pathway gliomas who were previously managed with surgery and/or chemotherapy were treated with carboplatin (560 mg/sq m) after radiographic evidence of disease progression. The median age at diagnosis was 2 years (range 4 months to 7 years), and the interval between diagnosis and carboplatin therapy ranged between 7 months and 6.5 years (median 1.8 years). Treatment was given at 4-week intervals and continued until unacceptable toxicity supervened, the disease progressed, or the disease was stable for 12 months. All patients demonstrated disease stability at the outset of the third cycle and continued to do so at the time of this writing. Two patients are 16 and 32 months from initial carboplatin therapy and have been off treatment for 5 and 14 months, respectively; two patients are still receiving therapy at 7 and 11 months after their initial treatment. During the study, two patients developed hypersensitivity to the drug, requiring its discontinuation. Toxicity was minimal, consisting mainly of thrombocytopenia, requiring a one-dose reduction in four of the six treated patients. No platelet transfusions were needed. These results suggest that carboplatin can arrest growth of progressive optic pathway gliomas in children and can allow delay of radiotherapy. A larger trial will be required to define the optimal use of carboplatin in the treatment of low-grade gliomas in children.

scholarly journals Optic pathway gliomas associated with neurofibromatosis type I in children

2019 ◽  
Vol 18 (4) ◽  
pp. 29-38
Author(s):  
E. F. Valiakhmetova ◽  
N. A. Mazerkina ◽  
O. A. Medvedeva ◽  
Y. Y. Trunin ◽  
E. M. Tarasova ◽  
...  
Keyword(s):  
Survival Rate ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Low Grade ◽  
Type I ◽  
Optic Pathway ◽  
Neurofibromatosis Type I ◽  
National Medical ◽  
Optic Pathway Gliomas ◽  
Visual Disturbances

Neurofibromatosis type I (NFI) is one of the most common brain tumor predisposition syndromes. Children with NFI are prone to develop a low grade gliomas, which can be localized in various areas of the brain, however, most of them occur in the structures of the optic pathway: optic nerves, chiasm, tracts and optic radiations – that is, are optic pathway gliomas (OPG). This retrospective study included children with newly diagnosied low grade glioma of the optic pathway at the age from 0 to 18 years with NFI, who underwent medical examination and / or treatment at the Burdenko Neurosurgery Institute from January 1, 2003 till December 31,2015. Atotal from 264 patients 42 (16%) had clinical manifestations of NFI. The ratio of boys and girls was 1:1. The median age was 4.25 years (range 4.5 months – 17 years). Visual disturbances were the most frequent clinical manifestation of the tumor. Surgical resection was performed in 18 patients. The remaining 24 patients OPG were diagnosed based on clinical and radiological findings: 9 patients were in observation group, 11 patients chemotherapy was carried out, three were given radiation therapy, and spontaneous regression of the tumor was recorded in 1 patient. Progression of the disease was observed in 14 patients in our cohort. The overall survival rate in patients with NFI was 98 ± 2% at 5 years. Event free survival rate was 68 ± 7% at 5 years.The study was approved by the Independent Ethics Committee of N.N. Burdenko National Medical Research Center of neurosurgery Ministry of healthcare ofRussian Federation.

scholarly journals EPCT-16. LENALIDOMIDE ACTIVITY IN PILOCYTIC ASTROCYTOMA AND OPTIC PATHWAY GLIOMAS: REPORT ON CHILDREN’S ONCOLOGY GROUP ACNS1022

2021 ◽  
Vol 23 (Supplement_1) ◽  
pp. i50-i50
Author(s):  
Katherine Warren ◽  
Gilbert Vezina ◽  
Linda Springer ◽  
Allen Buxton ◽  
Cody Peer ◽  
...  
Keyword(s):  
Pilocytic Astrocytoma ◽  
Low Dose ◽  
Objective Response ◽  
Low Grade Glioma ◽  
Activity Level ◽  
High Dose ◽  
Low Grade ◽  
Optic Pathway ◽  
Long Term Effects ◽  
Optic Pathway Gliomas

Abstract Children with low-grade glioma have excellent survival rates but often suffer from the morbidity of treatment, particularly from cytotoxic chemotherapies. Targeted agents appear to have some activity but the long-term effects of inhibiting normal developmental pathways are unknown. Lenalidomide is an oral immunomodulatory agent with additional properties including anti-angiogenesis. Phase I studies indicated greater tolerability of this agent compared to adults, and a potential dose-response effect. We performed a Phase 2 trial of lenalidomide in children with pilocytic astrocytoma and optic pathway gliomas who failed initial therapy. The primary objective was to determine the objective response rate of children randomized to Regimen A low-dose (20 mg/m2 /dose) or Regimen B high-dose (115 mg/m2 /dose) lenalidomide, each administering lenalidomide daily x 21 days of each 28-day course. Secondary objectives included estimation of event-free survival (EFS) in this population and correlation of plasma lenalidomide concentration with toxicity and outcome. Results 74 eligible patients were enrolled (n=37 to each arm). The pre-defined activity level of interest was achieved for both arms. Objective responses were observed in both arms, with 4 partial responses in each. A total of n=18 patients completed 26 courses of therapy (Arm A, n=12, Arm B, n=6) The median number of courses on each arm was 14 (range 2–26) for Arm A and 11 for Arm B (range 1- 26). Of the 74 eligible patients who received study drug, 30 required a dose reduction for toxicity (Arm A, n=6, Arm B, n=24) and 16 discontinued treatment on protocol due to toxicity (Arm A, n=2, Arm B, n=14). Conclusion Lenalidomide demonstrates a sufficient level of activity in children with low-grade glioma to warrant further exploration in Phase 3 studies. Low-dose (20 mg/m2) lenalidomide appears to have better tolerability.

scholarly journals Neuroophthalmological management of optic pathway gliomas

2007 ◽  
Vol 23 (5) ◽  
pp. E1 ◽  
Author(s):  
Andrew G. Lee
Keyword(s):  
Growth Rate ◽  
Optic Nerve ◽  
Major Complication ◽  
Initial Step ◽  
Neurofibromatosis Type ◽  
Tumor Location ◽  
Optic Pathway ◽  
First Line ◽  
Younger Patients ◽  
Optic Pathway Gliomas

✓ The growth rate of optic pathway gliomas (OPGs) is unpredictable and quite variable, especially in children with neurofibromatosis Type 1 (NF1). Close neuroophthalmalogical clinical follow-up with serial imaging (magnetic resonance imaging of the brain with and without contrast enhancement) is the recommended initial step in management to establish the growth rate of the lesion in an individual patient. Typically, only symptomatic and/or radiographically growing tumors require treatment, and observation is the accepted first-line option. Although both chemotherapy and radiotherapy can stabilize growth or even decrease the size of tumors, chemotherapy, especially in younger patients, has fewer side effects than radiation therapy (such as secondary tumors, radiation necrosis, and Moyomoya disease) and is generally considered the first-line treatment for progressive lesions in younger patients. The tumor location defines prognosis in OPGs; optic nerve gliomas (ONG) have the lowest rate of complications and death, and optic chiasm and retrochiasmal gliomas the highest. Although the major complication of an OPG is visual loss, hypothalamic involvement can lead to death. Resection is an option for ONGs but is generally reserved for tumors confined to the optic nerve with poor or no vision, or for patients with severe, cosmetically unappealing proptosis, producing severe pain or exposure keratopathy in a blind eye. Resection is generally not an option for intrinsic chiasmal or retrochiasmal OPGs. Extrinsic (exophytic) components can be debulked surgically, and surgery can be performed for hydrocephalus (ventriculoperitoneal shunt placement). The approach to a patient with OPG must be individualized based on tumor location, radiographic or clinical progression, the presence of NF1, and a risk–benefit comparison for treatment.

Optic pathway gliomas: a review

2007 ◽  
Vol 23 (5) ◽  
pp. E2 ◽  
Author(s):  
Mandy J. Binning ◽  
James K. Liu ◽  
John R. W. Kestle ◽  
Douglas L. Brockmeyer ◽  
Marion L. Walker
Keyword(s):  
Progressive Disease ◽  
Clinical Course ◽  
Mass Effect ◽  
Neurofibromatosis Type ◽  
Low Grade ◽  
Optic Pathway ◽  
Intracranial Tumors ◽  
First Line ◽  
Optic Pathway Gliomas

✓Optic pathway gliomas represent approximately 3–5% of childhood intracranial tumors. They usually occur in children during the first decade of life and are seen in 11–30% of patients with neurofibromatosis Type 1 (NF1). Although these tumors are typically low-grade gliomas, the clinical course and natural history are highly variable, making treatment paradigms difficult. Overall, however, they are often indolent tumors that can be observed over time for progression without initial treatment, especially in patients with NF1. Chemotherapy is the first-line treatment for progressive tumors, and radiation therapy is reserved for patients with progressive disease who are older than 5–7 years. Surgery is reserved for large tumors causing mass effect or hydrocephalus and tumors confined to the orbit or unilateral optic nerve.

Trauma and Glaucoma Emergencies

Glaucoma ◽  
2012 ◽  
Author(s):  
Vandana K. Badlani
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Trabecular Meshwork ◽  
Optic Atrophy ◽  
Blood Cells ◽  
Ciliary Body ◽  
Blood Clot ◽  
Prognostic Significance ◽  
Clot Lysis ◽  
African American Race

• A tear in the anterior face of the ciliary body, with damage to the major arterial circle of the iris, arterial branches to the ciliary body, or veins coursing between the ciliary body and episcleral venous plexus • In most cases, the hyphema clears in a few days, with the red blood cells exiting the eye through the trabecular meshwork • The size of initial hyphema has prognostic significance regarding final visual acuity. • 76% of subtotal hyphemas attain a visual acuity of 20/50 or better, whereas only 35% of total hyphemas attain a visual acuity of 20/50 or better. •Overall in literature: 3.5% to 38% • Scandinavian literature: 2% to 9% • Most studies in urban North American centers: 20% to 30% •Clot lysis and retraction from the traumatized vessel can lead to a rebleed. • Usually between the third and the fifth day Increase in the size of the hyphema, a layer of fresh blood over older blood, and dispersed erythrocytes over the clot once the blood has settled •Ocular hypotony, hypertension, use of aspirin, and African-American race • The incidence of rebleed does not seem to correlate with the size of hyphema. Therefore, the use of medications to prevent rebleed should not depend on the size of hyphema. • Approximately one third of all patients with hyphema have increased IOP. • Obstruction of the trabecular meshwork by erythrocytes and blood products or damage to the trabecular meshwork function • In larger hyphemas, pupillary block by a blood clot can also contribute to increase in IOP. • Peripheral anterior synechiae (PAS) •Persistence of hyphema for more than 1 week can result in the formation of PAS. •Approximately 6% of patients have optic atrophy, exhibited by optic nerve pallor. • Secondary to elevated IOP or optic nerve contusion •The risk of optic atrophy appears to be greater if the IOP is allowed to remain 50 mmHg or more for 5 days or 35 mmHg or more for 7 days in sickle cell-negative patients without prior optic nerve damage. •The incidence of corneal blood staining is between 2% and 11% and is much higher in patients with a total hyphema.

scholarly journals Diseases of the eye in chronic alcoholism

2013 ◽  
Vol 94 (1) ◽  
pp. 101-105
Author(s):  
R R Iskhakova ◽  
F R Saifullina
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Peripheral Vision ◽  
Clinical Manifestations ◽  
Chronic Alcoholism ◽  
Low Grade ◽  
Optic Nerve Atrophy ◽  
Eye Disorders ◽  
Temporal Parts ◽  
Late Stages

Chronic alcoholism is a disease affecting all the vital organs, including development of functional and organic eye disorders in 2-70% of cases. Alcoholic (ethanol) amblyopia with such features as slow gradient visual acuity decrease in both eyes (although visual acuity can decrease down do a very low grade, the complete blindness is rare) is among the disorders in patients with chronic alcoholism. Fundus of the eye at the beginning of the disease is normal in most of the cases, sometimes an optic nerve congestion and mild features of optic neuritis can be observed. Sometimes optic nerve hyperemia or anemia can be observed. Simple optic nerve atrophy seen as the temporal parts or the entire disc blanching can be seen at the late stages. Alcohol toxicity can also result as peripheral vision decrease, with degree of it increasing depending on the clinical manifestations of the alcoholism. Generally, eye disorders in patients with chronic alcoholism in most of the cases manifest as central retinal area damage and combination of retinal and optic nerve involvement.

scholarly journals Management of low-grade gliomas of the optic nerve and chiasm

Cancer ◽  
1988 ◽  
Vol 61 (4) ◽  
pp. 635-642 ◽  
Author(s):  
John C. Flickinger ◽  
Carlos Torres ◽  
Melvin Deutsch
Keyword(s):  
Optic Nerve ◽  
Low Grade ◽  
Low Grade Gliomas
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