A Patient With Exophytic Primary Optic Nerve Sheath Meningioma: Stratified Risk of Surgery Based on the Morphology.

Primary optic nerve sheath meningioma (pONSM) is one of the most challenging tumors to manage. Although surgical excision may be considered a treatment option to maintain visual function, the safety of surgery remains debatable due to the non-negligible risk of optic nerve injury. pONSM often grows concentrically around the optic nerve; however, it can also demonstrate an exophytic growth from the optic nerve. The risk of surgical excision of pONSM may vary based on the tumor's growth pattern and area of contact with the optic nerve; however, there has been no detailed report on risk stratification to date. The authors present an illustrative case of an exophytic pONSM which was removed surgically without complications, suggesting that tumor morphology may also influence the surgical risk. In this report, the imaging and intraoperative features of exophytic pONSM are presented in detail, and the risk factors for complications are discussed.

Accuracy of Computed Tomography and Magnetic Resonance Imaging for Detection of Pathologic Risk Factors in Patients Diagnosed with Retinoblastoma.

Aim: To assess and compare the diagnostic accuracy of magnetic resonance imaging (MRI) and computed tomography (CT) for detecting the extent of tumor invasion in eyes with advanced retinoblastoma prior to enucleation using histopathologic analysis as a reference.Methods: A total of 56 patients (68 eyes) enucleated for retinoblastoma were reviewed. Eyes with complete data (CT 28, MRI 16) were included for analysis. Imaging data were reviewed by a pediatric radiologist, blinded to histopathology results. Four high-risk factors which included scleral, choroidal, anterior eye segment invasion, and postlaminar optic nerve invasion were assessed.Results: For CT, the diagnostic odds ratio (DOR), sensitivity, and specificity for detecting postlaminar optic nerve invasion were 1.7%, 25%, and 83.3%. Choroidal invasion was correctly identified in only 2 of 10 eyes (DOR 0.5, sensitivity 20%, specificity 66.7%). For scleral invasion, CT showed a diagnostic ratio of 1.5%, sensitivity 40%, specificity 69.6% whereas for anterior segment invasion DOR was 9.2%, sensitivity 100%, and specificity 65.4%. MRI showed a higher DOR for detecting postlaminar optic nerve invasion of 39%, sensitivity 77.8%, and specificity 100%. Choroidal and scleral invasion on MRI had a DOR of 6.5% (sensitivity 25%, specificity 100%) and 6% (sensitivity 33.3%, specificity 92.3%) respectively while DOR for anterior segment invasion was 1.3% (sensitivity 50%, specificity 57.1%).Conclusion: CT showed a poor diagnostic accuracy for all four high-risk factors in advanced retinoblastoma and therefore may not be a useful tool for assessment of tumor extension. For MRI, detection of postlaminar optic nerve invasion was moderately accurate although less accurate for detection of other risk factors. Decision-making for each child should not be based on any single parameter but rather on consideration of clinical factors in combination with radiologic findings.

Opto-chiasmatic apoplexy as a compartment syndrome? Anatomical and surgical considerations on two bleeding cavernous malformations.

OBJECTIVE: Opto-chiasmatic (OC) cavernous malformations are sporadic lesions that are often misdiagnosed clinically and radiologically. Presenting symptoms range from incidental findings to the more frequent and dramatic "chiasmal apoplexy." The present study aims to evaluate the potential role of arachnoidal membranes of the basal cisterns in the onset of OC apoplexy. A possible mechanism resembling a compartment syndrome is discussed through the description of two cases of bleeding cavernomas. METHODS: We describe clinical, radiological, intraoperative findings in two cases of young patients presenting with OC apoplexy from bleeding cavernoma. The first was a 38-year-old man diagnosed with optic neuritis at the first episode of visual acuity deterioration. The second patient was a 22 -year-old woman who suffered two OC apoplexy episodes from a recurrence, which also presented with bleeding. RESULTS: Both patients were operated on via pterional craniotomy and presented a postoperative improvement of visual symptoms. The second patient experienced deterioration 30 months after surgical resection due to rebleeding from a recurrence and required a second operation. Follow-up revealed a good recovery of visual disturbances; MRI at 6 and 3 years showed in both patients an apparent complete removal of the cavernous malformations. CONCLUSION: The cisternal environment where OC cavernous malformations develop and the paradigm of a compartment syndrome could explain the clinical presentation variability. This very rare subset of cavernomas would benefit from a classification system using ad hoc neuroimaging protocols and consistent indications.

Accuracy and Interrater Reliability of CISS Versus Contrast-Enhanced T1-Weighted VIBE for the Presence of Optic Canal Invasion in Tuberculum Sellae Meningiomas.

BACKGROUND: The magnetic resonance imaging sequence used to assess optic canal invasion by tuberculum sella meningiomas (TSMs) has not been standardized. Both constructive interference in steady state (CISS) and contrast-enhanced T1-weighted volume-interpolated breath-hold examination (VIBE) sequences are frequently used. The aim of the present study was to compare the accuracy and interrater reliability of these sequences in predicting optic canal invasion by TSMs. METHODS: In the present retrospective study of 27 patients (54 optic canals) who had undergone endoscopic transtuberculum transplanum resection of TSMs, images from preoperative CISS and contrast-enhanced T1-weighted VIBE sequences were assessed by 5 neuroradiologists who were unaware of the operative findings. The readers evaluated the optic canal in 4 quadrants at 2 locations (the posterior tip of the anterior clinoid process and the optic strut). A quadrant was considered positive for tumor invasion if invasion was present at either of these 2 locations. The reference standard was intraoperative observation of gross optic canal invasion. RESULTS: The interrater agreement was good for the presence or absence of tumor involvement in a particular quadrant (CISS, 0.635; VIBE, 0.643; 95% confidence interval for the difference, -0.086 to 0.010). The mean sensitivity and specificity for optic nerve invasion were 0.643 and 0.438 with CISS and 0.643 and 0.454 with VIBE, respectively. No significant differences were seen between the sequences in terms of reader accuracy when the intraoperative findings were used as the reference standard. CONCLUSION: CISS and VIBE sequences both have good accuracy in predicting for optic canal tumor invasion by TMEs.

Genetic characterization of an aggressive optic nerve pilocytic glioma.

Optic nerve glioma (ONG) is a rare, typically slow-growing WHO I grade tumor that affects the visual pathways. ONG is most commonly seen in the pediatric population, in association with neurofibromatosis type 1 syndrome. However, sporadic adult cases may also occur and may clinically behave more aggressively, despite benign histopathology. Genetic characterization of these tumors, particularly in the adult population, is lacking. A 39-year-old female presented with 1 month of progressive left-sided visual loss secondary to a enhancing mass along the left optic nerve sheath. Initial empiric management with focal radiotherapy failed to prevent tumor progression, prompting open biopsy which revealed a WHO I pilocytic astrocytoma of the optic nerve. Whole-exome sequencing of the biopsy specimen revealed somatic mutations in NF1,FGFR1 and PTPN11 that may provide actionable targets for molecularly guided therapies. Genetic characterization of ONG is lacking but is needed to guide the management of these rare but complex tumors. The genomic alterations reported in this case contributes to understanding the pathophysiology of adult sporadic ONG and may help guide future clinical prognostication and development of targeted therapies.

Neurofibromatosis Type 1-Associated Optic Pathway Glioma in Children: A Follow-Up of 10 Years or More.

PURPOSE: This study reports on neurofibromatosis type 1 (NF1)-associated optic pathway gliomas (OPGs) and a follow-up period of at least 10 years in a cohort of children. OPGs are a common manifestation of NF1 and can cause significant visual morbidity. Long-term follow-up in children with NF1-associated OPGs has not been reported previously. DESIGN: Retrospective observational case series. METHODS: This study included children with a documented follow-up of at least 10 years. Three final outcomes were evaluated: visual acuity (VA) per eye (i.e., in the more severely affected eye), VA per patient (i.e., VA when both eyes were open), and the presence of optic nerve head pallor. RESULTS: A total of 45 children were included, followed for a mean of 14 years (range, 10-21 years). At the end of follow-up, abnormal VA (considered moderate to severe impairment) in the more severely affected eye was present in 36% of the patients and in both eyes in 11%. Optic nerve head pallor of 1 or both nerves was present in 62%. In multivariate analysis, only initial VA and optic nerve head appearance at presentation were found to predict the final outcomes. All patients, except for 1, were asymptomatic at presentation and had normal VA and nerves that appeared normal, preserved their good vision in both eyes. Only 1 patient, who had normal VA and normal appearing nerves at presentation, had moderate to severe VA loss at long term follow-up. CONCLUSIONS: In this study, children with NF1-associated OPG whose examination signs and symptoms were normal had a normal initial examination and excellent long-term visual and anatomical outcomes. VA and the appearance of the optic nerve head at presentation predict long-term outcome.

Cavernous malformation of the intracranial optic nerve with operative video and review of the literature.

Optic pathway cavernous malformations represent less than 1% of all central nervous system cavernomas. They can lead to visual loss with indeterminate speed, and therefore, the timing of intervention is controversial. We present a patient with an optic nerve cavernoma, which was discovered incidentally 3 years before the onset of visual symptoms. The evolution of her symptoms, visual function and radiographic findings are reported in detail. The cavernoma was eventually removed via a transciliary orbitocranial keyhole approach with the goal to protect the optic chiasm from progressive involvement. The function in the affected optic nerve was not salvageable. This is the second reported case of a cavernoma selectively involving the intracranial portion of the optic nerve. The debate on the timing of intervention is highlighted with reference to the natural history of these rare lesions.

Multimodal imaging in optic nerve melanocytoma: Optical coherence tomography angiography and other findings.

PURPOSE: To evaluate optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging and optical coherence tomography angiography (OCTA) as diagnostic tools in optic disc melanocytoma (ODM) and study the differences in peripapillary and macular vascular density in eyes with ODM using OCTA. METHODS: Patients with ODM were enrolled in this case series. Each patient underwent evaluation of best-corrected visual acuity, slit-lamp biomicroscopy, fundus examination, fundus photography, standard visual field testing, spectral domain OCT, ultrasound B-scan examination, FAF, fluorescein angiography and OCTA. RESULTS: Eight patients (three males and five females) with ODM (9 eyes) were enrolled. The largest ODM presented a nodular appearance with a hyper-reflective tumor surface and a posterior optical shadow on OCT. FAF images showed hypoautofluorescence of the tumor with well-defined outlines. Analysis of optic nerve vascular area showed decreased values in the radial peripapillary capillary plexus (3 of 5) and the outer retinal plexus (4 of 5) in the eyes with ODM. In contrast, the ODM eyes had a higher macular vascular area in the deep capillary plexus in 4 of 6 patients. CONCLUSIONS: ODM may be associated with changes in peripapillary and macular perfusion, with an increase in peripapillary vascularization being a possible risk factor for growth. OCTA might be a helpful objective method in the analysis of changes in flow in patients with ODM.

Optic disc melanocytoma with normal tension glaucoma and angle closure glaucoma: Two case reports.

RATIONALE: Optic disc melanocytoma is an ophthalmic tumor that arises from melanocytes, and is a variant of the melanocytic nevus. Here we report 2 cases of optic disc melanocytoma in Asian patient: one associated with normal tension glaucoma (NTG), and the other associated with angle closure glaucoma (ACG). PATIENT CONCERNS: Case 1 is a 57-year-old Asian female presented to our department for a general ophthalmic examination. Incidentally, brownish pigmented lesion was found on dilated fundus examination of her right eye. The fundus examination and optical coherence tomography (OCT) examination revealed a mass within optic disc, and superotemporal retinal nerve fiber layer (RNFL) thinning. The Humphrey visual field test showed corresponding visual field defect. Fluorescein angiography showed no leakage around the lesion. Case 2 is a 78-year-old Asian woman presented with complaints of acute bilateral ocular pain. The initial examination revealed shallow anterior chamber. Under the impression of intermittent angle closure attack, prophylactic laser peripheral iridotomy were performed. On dilated fundus examination, black pigmented lesion was found at superior sector of optic disc. Further examination revealed bilateral superotemporal, inferotemporal RNFL thinning on OCT, and spatially corresponding visual field defects. DIAGNOSES: Clinical diagnosis of NTG was made for case 1 patient. Although it was a little distant from typical glaucomatous changes, nevertheless she had RNFL defect compatible with visual field defects. Considering her normal IOP and angle structures, we believe NTG was a probable diagnosis for the patient. In case 2, we made diagnosis of ACG presenting as intermittent angle closure attack because of her presenting symptoms, narrowing of anterior chamber and angle structures found on gonioscopic and slit lamp examinations. INTERVENTIONS: In Case 1, we prescribe 0.005% latanoprost ophthalmic solution. In Case 2, at first prophylactic laser peripheral iridotomy was performed. Then, topical eyedrops administration was started, and the patient was examined periodically. OUTCOMES: In Case 1, at 6 months' follow-up, OCT and visual field test showed no progression. In Case 2, to this date, the optic disc melanocytoma remains stable for over a 6-year-follow-up period. LESSONS: The fact that NTG and ACG can coexist in patients with melanocytoma of optic disc should be recognized, and the possibility of such should appropriately be evaluated.

Transient Hepatotoxicity Induced by Vinblastine in a Young Girl with Chiasmatic Low Grade Glioma.

BACKGROUND: Vinblastine (VBL) is a cytostatic drug frequently applied in children with lymphoma and progressive low-grade glioma (LGG), with hematotoxicity as the main side effect. CASE REPORT: Here, the case of a 7-month-old girl with tumor progression of an LGG during standard chemotherapy with carboplatin and vincristine, is presented. Switching to VBL led to a 20-30- fold increase of transaminases (grade IV CTCAE 5.0), spontaneously resolving after the end of treatment. The toxicity is possibly age-related since it did not re-occur at the restart of VBL at 4 years old. This finding might have consequences for toxicity screening in future protocols, especially when including infants.

Optic nerve invasion of non-juxtapapillary uveal melanoma: a rare occurrence.

A 44-year-old man presented with complaints of pain and discomfort in his left eye (OS). On examination, he had bare perception of light in OS and had a diffuse pigmented mass lesion in the nasal quadrant of the bulbar conjunctiva, associated with neovascularisation of the iris and iridocyclitis, with no fundus view. Intraocular pressure OS was 40 mm Hg. B-scan ultrasonography OS revealed an intraocular mass with thickened sclerochoroidal complex. A clinical diagnosis of OS ciliochoroidal melanoma with extraocular extension was made. He underwent OS extended enucleation with implant. Histopathological examination confirmed the diagnosis of ciliochoroidal melanoma with tumour extension into the optic nerve posteriorly and the extrascleral tissues anteriorly. There was no evidence of systemic metastasis. Even in a case of non-juxtapapillary uveal melanoma, poor vision and high intraocular pressure are clinical indicators of optic nerve tumour invasion.

Rare Case of Sporadic Malignant Optic Pathway Glioma in 71-Year-Old Woman.

A 71-year-old woman presented to our institution with a 2-week history of concentric bilateral left accentuated visual field loss. Examination of her eyes including funduscopy was normal. A gadolinium-enhanced magnetic resonance tomography showed contrast enhancement of the optic pathway in the T1-weighted sequence that included both optic nerves, the optic chiasm, and the left optic tract. Differential diagnoses of this kind of lesion extending along the optic nerves include neurosarcoidosis, lymphoma, and glioma. The patient was treated with high-dose corticosteroids under the suspicion of neurosarcoidosis. During that time her vision deteriorated, resulting in amaurosis on her left eye and marginal peripheral vision on the right. A biopsy of the left optic nerve revealed a pilocytic astrocytoma, which to some extent contrasted the observed clinical course. After discussing the treatment options including radiotherapy and chemotherapy, the patient opted for supportive care and died 3 months later.

Management of advanced uni- or bilateral retinoblastoma with macroscopic optic nerve invasion.

BACKGROUND: Retinoblastoma with macroscopic optic nerve (ON) invasion depicted by imaging at diagnosis remains a major problem and carries a poor prognosis. We sought to describe the treatment and outcome of these high-risk patients. METHODS: Retrospective mono-institutional clinical, radiological, and histological review of patients with uni- or bilateral retinoblastoma with obvious ON invasion, defined by radiological optic nerve enlargement (RONE) depicted by computed tomography scan or magnetic resonance imaging (MRI), was performed. RESULTS: Between 1997 and 2014, among the 936 patients with retinoblastoma treated at Institut Curie, 11 had detectable RONE. Retinoblastoma was unilateral in 10 and bilateral in one. Median age at diagnosis was 28 months (range, 11-96). ON enlargement extended to the orbital portion in three patients, to the optic canal in five, to the prechiasmatic portion in two, and to the optic chiasm in one. Nine patients received neoadjuvant chemotherapy and partial response was obtained in all. Enucleation was performed in 10/11 patients-by an anterior approach in three and by anterior and subfrontal approaches in seven. Three patients had a positive ON resection margin (2/3 after primary enucleation). All enucleated patients received adjuvant treatment (conventional chemotherapy: 10, high-dose chemotherapy: seven, radiotherapy: five). Leptomeningeal progression occurred in four patients. Seven are in first complete remission (median follow up: 8 years [3.5-19.4]). CONCLUSION: Neoadjuvant chemotherapy and microscopic complete resection have a pivotal role in the management of retinoblastoma with RONE. MRI is recommended for initial and pre-operative accurate staging. Surgery should be performed by neurosurgeons in case of posterior nerve invasion. Radiotherapy is required in case of incomplete resection.

Rosette-forming Glioneuronal Tumor in the Optic Pathway of a Child.

Rosette-forming glioneuronal tumor is a rare World Health Organization grade I neoplasm, primarily involving the posterior fossa. Most cases have been reported in young adults. Although maximal surgical resection is advocated, a precise treatment modality is yet to be established. We describe an unusual presentation of rosette-forming glioneuronal tumor occurring in the optic pathway in a child. As the site of the tumor was not amenable to resection, he underwent radiotherapy and is currently well on follow-up.