An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

Cavernous Malformation of the Optic Nerve and Chiasm: Prompt Suspicion and Surgery Matter.

BACKGROUND: Cavernous malformations (CMs) of the optic nerve and chiasm are extremely rare, accounting for less than 1% of all intracranial CMs. Acute, subacute, or progressive visual loss from CM may occur with or without hemorrhage. Prompt surgical excision of the CM offers the best hope to improve or stabilize vision. Given its rarity, optic nerve and chiasm CMs may not be readily suspected. We provide 3 cases of optic nerve and chiasm CM, highlighting key neuroimaging features and the importance of expedited intervention. METHODS: Case records of the neuro-ophthalmology clinics of the Bascom Palmer Eye Institute and the University of Colorado, and literature review of reported cases of optic CM. RESULTS: A 49-year-old woman reported acute progressive painless vision loss in the right eye. MRI showed a suprasellar mass with heterogeneity in signal involving the right prechiasmatic optic nerve. Surgical excision of the CM 5 days after onset of visual loss improved vision from 20/300 to 20/30. A 29-year-old woman with acute painless blurred vision in the right eye had anterior chiasmal junctional visual field defects corresponding to a heterogeneously minimally enhancing mass with blood products enlarging the optic chiasm and proximal right optic nerve. Surgical excision of the CM 8 weeks after onset of visual loss improved vision from 20/40 to 20/15 with improved visual fields. A 33-year-old woman with a history of familial multiple CMs, diagnosed at age 18, reported new-onset severe headache followed by blurred vision. MRI showed a hemorrhagic lesion of the optic chiasm and right optic tract. She was 20/20 in each eye with a reported left superior homonymous hemianopia. No intervention was recommended. Vision of the right eye worsened to 20/400 2 months later. The patient was followed over 13 years, and the MRI and visual function remained unchanged. Literature review yielded 87 optic CM cases occurring across gender and nearly all ages with visual loss and headache as the most common presenting symptoms. Optic chiasm is the most common site of involvement (79%). Nearly 95% of reported CM cases were treated with surgery with 81% with improved vision and 1% with worsened vision. CONCLUSION: MRI features are critical to the diagnosis of optic nerve and chiasm CM and may mimic other lesions. A high index of suspicion by the neuro-ophthalmologist and neuroradiologist leads to early recognition and intervention. Given optic CM displaces and does not infiltrate neural tissue, expedited surgical resection by a neurosurgeon after consideration of other diagnostic possibilities improves visual function in most cases.

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.

Vision Loss from Metastatic Colon Cancer to the Planum Sphenoidale and Optic Nerves.

An 80-year-old man was seen in urgent neuro-ophthalmology consultation for bilateral vision loss. He had a past medical history of hypertension and metastatic stage IV colorectal adenocarcinoma. Four months prior to presentation, he developed gradual onset, painless blurred vision in his right eye. He underwent cataract surgery in that eye, but his vision continued to decline to the point of no light perception. He developed new onset, painless, blurred vision in his left eye 3 weeks prior to presentation and woke up with no light perception in his left eye one day prior to presentation.

Neurofibromatosis 1-associated optic pathway gliomas.

BACKGROUND: Optic Pathway Gliomas (OPG) are the most common brain tumor in Neurofibromatosis 1 patients (NF1). They are found along the optic pathway and may involve the optic nerves, chiasm, retro-chiasmatic structures, and the optic radiations. NF1 associate OPG (NF1-OPG) have variable presentation, disease course and response to treatment. The optimal management is patient-specific and should be tailored by a multidisciplinary team. Age, sex, histology, and molecular markers may be important factors in the individualized decision-making process. Chemotherapy is the first-line treatment in cases of progressive tumors, and visual preservation is the main goal of treatment. PURPOSE: In this paper we will review the disease, practical management, and recent advances of NF1-OPG.

Laparoscopy-assisted placement of a ventriculobiliary shunt: a technical note.

PURPOSE: Hydrocephalus is a common condition in pediatric neurosurgeon's clinical practice. Peritoneal and atrial shunting is the treatment of choice in the immense majority of patients. Sometimes, there are complex cases that may need innovative solutions in order to implant the distal catheter of the shunt: in these situations, the gallbladder is a well-described option and it can be safely used. METHODS: We report the case of a 4-month-old baby with a wide optic-chiasmal hypothalamic glioma generating hydrocephalus with high protein values in CSF. Ventriculobiliary shunting was decided, and the distal catheter was directed by the assistance of laparoscopic surgery. RESULTS: The outcome was satisfactory. CONCLUSIONS: As far as we know, laparoscopic placement of a distal catheter in the gallbladder has not been described in the literature; herein, we describe the tenets and the technical tips of this approach.

Optical coherence tomography angiography findings of an optic disc melanocytoma in a glaucoma eye.

PURPOSE: To determine the optical coherence tomography angiography (OCTA) characteristics of a case of optic disc melanocytoma (ODM) associated with glaucomatous visual field and retinal nerve fiber layer (RNFL) defects in normal tension glaucoma. METHODS: The left eye of a 37-year-old female patient followed for a stable ODM for 10 years was investigated with OCT, OCTA, fluorescein (FA), and indocyanine green (ICGA) angiography. The ODM was unchanged, but a previously unknown inferotemporal neuroretinal rim loss and inferotemporal and superotemporal wedge shape glaucomatous RNFL thinning were seen with corresponding glaucomatous visual field defects. The intraocular pressure was 12 mmHg without treatment. RESULTS: In the area of the ODM, FA showed minimal vasculature, and week staining in the late phase, while ICGA showed no signal. In contrast, OCTA showed a dense vasculature in both the superficial and deep layers of the melanocytoma, which was clearly separated from the capillaries of the peripapillary retina. OCTA also showed reduced peripapillary perfusion in the areas of the glaucomatous RNFL bundle defects. CONCLUSIONS: In the presented case of a stable ODM and newly detected normal tension glaucoma, OCTA provided more information on perfusion than FA and ICGA which are limited by the heavy pigmentation of the ODM. OCTA also showed a similarly decreased capillary perfusion in both RNFL bundle defects suggesting that the structural damage was related to glaucoma and not compression by ODM. These results suggest that OCTA may be a method preferred over conventional angiography in ODM cases.

Optic disk melanocytoma associated with polypoidal choroidal vasculopathy lesions, after combination treatment of photodynamic therapy and intavitreal aflibercept (Eylea), a case report.

BACKGROUND: We report a rare case of a woman with optic disk melanocytoma (ODMC) in conjunction with polypoidal choroidal vasculopathy (PCV). We also present, for the first time in literature, the clinical and morphological outcomes of the applied treatment, consisting of a session of photodynamic therapy (PDT) and three monthly intravitreal aflibercept injections. CASE PRESENTATION: An 83-year-old Greek woman, complaining for visual decline at her left eye, referred to our department and was diagnosed with ODMC associated with PCV. At presentation, best corrected visual acuity (BCVA) was 2/10, fundus examination revealed a pigmented lesion covering partially the optic nerve head and extending into the peripapillary choroid and retina, while hard exudates were observed temporal to it. Blocked hypofluorescence in the area covered by the lesion and diffuse hyperfluorescence at its temporal rim were shown by fluorescein angiography (FA). Indocyanine green angiography (ICGA) identified 3 hyperfluorescent polypoidal lesions arising from the choroidal vasculature. Optical coherence tomography (OCT) revealed subretinal fluid and retinal pigment epithelium detachment (RPE) at the region corresponding to polyps. The treatment included a PDT session combined with 3 monthly intravitreal aflibercept injections. Three months since the treatment initiation, new BCVA was 5/10, ICGA demonstrated total polyps occlusion, while OCT detected RPE detachment without subretinal fluid. Ten months later, ODMC was stable, BCVA rose to 7/10, no polyps were present, and total resolution of RPE detachment was achieved. CONCLUSIONS: This is the first case report of PCV coexisting with ODMC, presenting both ICGA and OCT findings, and the applied treatment and its outcomes. Furthermore, we demonstrated that PDT combined with intravitreal aflibercept injections seems to be a promising treatment for PCV.

Optic nerve Schwannoma: Neurofibromatosus Type-1? A case report.

Optic nerve Schwannoma is a very rare tumour described in literature. The rarity of this tumour is due to the fact that the optic nerve is myelinated by oligodendrocytes. We present a case of an ancient optic nerve schwannoma in a 16 year old girl who presented to the clinic with right sided proptosis and bilateral loss of vision. She underwent complete excision of the tumour via a craniotomy and histopathology was confirmatory. The various theories explaining the origin of this tumour are discussed along with surgical nuances of removing this tumour. The importance of taking every precaution to preserve vision and avoiding imaging confusion in patients with von Recklinghausen syndrome is also discussed. Only 6 cases of optic nerve schwannomas are described in literature while none have been described in a patient with NF 1.

Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision.

Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1), leading to visual deficits in fewer than half of these individuals. The goal of chemotherapy is to preserve vision, but vision loss in NF1-associated OPG can be unpredictable. Determining which child would benefit from chemotherapy and, equally important, which child is better observed without treatment can be difficult. Unfortunately, despite frequent imaging and ophthalmologic evaluations, some children experience progressive vision loss before treatment. Indications for chemotherapy usually are based on a comprehensive, quantitative assessment of vision, but reliable vision evaluation can be challenging in young children with NF1-OPG. The ability to identify and predict impending vision loss could potentially improve management decisions and visual outcomes. To address this challenge, ophthalmologic, electrophysiologic, and imaging biomarkers of vision in NF1-OPG have been proposed. We review current recommendations for the surveillance of children at risk for NF1-OPG, outline guidelines for initiating therapy, and describe the utility of proposed biomarkers for vision.

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1.

Sporadic optic pathway gliomas (OPGs) have been reported to cause more vision loss than OPGs associated with neurofibromatosis type-1, but long-term visual outcome data are limited. The purpose of this study was to report the visual outcomes of a cohort of pediatric patients with sporadic OPGs. This was a retrospective, cohort study at a tertiary care pediatric hospital and cancer institute. The study included all patients with sporadic OPGs evaluated from 1990 to 2014. The primary outcome was visual acuity at final follow-up. Secondary outcomes were risk factors for a poor visual outcome and the rate of progression. There were 59 pediatric patients included in the study. Median age at presentation was 2.5 years old and median follow-up was 5.2 years. In the worse eye at final follow-up, 16 patients (27 %) were 20/30 or better, 9 patients (15 %) were between 20/40 and 20/80, and 34 patients (58 %) were 20/100 or worse. In the better eye at final follow-up, 33 patients (56 %) were 20/30 or better, 11 patients (19 %) were between 20/40 and 20/80, and 15 patients (25 %) were 20/100 or worse. Risk factors for a poor visual outcome included younger age at presentation, optic nerve pallor, and tumor extent. Of the 54 patients (92 %) who received treatment, 40 (74 %) experienced disease progression during or after treatment. A majority of pediatric patients with sporadic OPGs had significant long-term visual impairment. In spite of treatment, tumor progression is common. Serial ophthalmic examinations with quantitative vision measurements are essential in the management of sporadic OPGs.

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

OBJECTIVE: To evaluate the utility of screening brain/orbital magnetic resonance imaging (MRI) in a large population of children with neurofibromatosis type 1 (NF1) over a 20-year period. STUDY DESIGN: A retrospective analysis of clinical and imaging data from children with NF1 seen at a single center between 1990 and 2010 was performed. RESULTS: During the 20-year study period, 826 individuals with NF1 (402 females, 424 males) ages 1-9 years were screened for optic pathway gliomas (OPGs) using brain/orbital MRI; 18% were identified with OPGs with a median age at detection of 3 years. Fifteen percent of patients with OPGs had radiologic or clinical progression requiring therapy. Children with chiasmatic and postchiasmatic tumors were more likely to require therapy compared with patients with prechiasmatic OPGs (P < .0001). Patients with visual deficits at the time of diagnosis were more likely to experience visual decline despite therapy when compared with patients treated based on radiologic progression (P < .012). CONCLUSIONS: Our findings confirm that chiasmatic and postchiasmatic OPG in children with NF1 have the highest risk for progression and vision loss. Early identification of OPG by screening MRI prior to the development of vision loss may lead to improved visual outcomes. Children with negative brain and orbital MRI screening at age 15 months or later did not develop symptomatic OPGs.

Optic disc drusen associated with optic nerve tumors.

PURPOSE: To propose a theory based on clinical observation, namely, whether axonal distress induced by optic nerve tumors could be a triggering factor for optic disc drusen (ODD) formation. CASE REPORTS: A 28-year-old woman with ODD and optic disc melanocytoma, a 53-year-old woman with ODD and optic nerve meningioma, and a 29-year-old woman with ODD and optic nerve glioma underwent comprehensive ophthalmologic examinations including spectral-domain optical coherence tomography, swept-source optical coherence tomography, visual field tests, color vision tests, and complete neurologic examinations including brain magnetic resonance imaging. In two cases, unilateral ODD existed on the same side of optic nerve tumors. In the bilateral case, the nerve that contained the tumor had ODD that were located more deeply and on both nasal and temporal sides of the optic nerve compared with the contralateral eye. In two cases, optic disc edema (ODE) was also present, and ODD persisted after ODE resolved. CONCLUSIONS: Optic nerve tumors can trigger the formation of ODD, which suggests that ODD pathogenesis involves axonal flow distress in the optic nerve. The presence of asymmetric ODD and ODE may indicate the presence of an optic nerve tumor.

Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma.

INTRODUCTION: Varadi-Papp syndrome (VPS) or oral-facial-digital syndrome type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. It can be associated with central nervous system tumors, which most commonly has been a hypothalamic hamartoma. CLINICAL CASE REPORT: The boy had unusual facial features, developmental delay, limb malformations, and other phenotypic anomalies suggestive of VPS. X-ray of the hand and feet showed right hand polydactyly. He also had a deep wider peduncular fossa, thickened superior cerebellar peduncle, and inferior vermian hypoplasia along with optochiasmatic tumor. The patient underwent a right pterional craniotomy and tumor decompression. Histopathology was suggestive of a pilocytic astrocytoma. CONCLUSION: This is the first case in available literature in which the OFDS-VI has been associated with an optochiasmatic pilocytic astrocytoma. We suggest an expansion of the disease spectrum of OFDS-VI to include the association of optochiasmatic pilocytic astrocytoma.

[Eight cases of cavernous hemangioma of the optic chiasm].

OBJECTIVE: To report the clinical characteristics, neuto-imaging and prognosis of cavernous hemangioma of the optic chiasm. METHODS: Retrospective data analysis was conducted in 8 patients from Beijing Tongren Hospital and Beijing Tiantan Hospital. Patients' clinical characteristics, neuroimaging and prognosis were assessed. RESULTS: There were eight patients aging from 16-58 years old including 3 females and 5 males. The median age was 39.5 years. From the time of onset to diagnosis, the shortest time was 25 days and the longest was 2 years and 4 months. Clinical characteristics of 8 cases were analyzed. Among 8 cases, 3 patients had acute course, 3 patient had chronic course with acute exacerbation and 2 patients had chronic course. All patients presented with decreased visual acuity and/or visual field defect and 3 cases had headache. The most common initial manifestation was decreased visual acuity and/or visual field defect (4 cases). Only 4 cases were diagnosed cavernous hemangioma of the optic chiasm before surgery. The hemangioma was total resected in 6 patients and other two got partly removed. Visual function was improved in 4 cases after surgery. MRI showed mixed signal. CONCLUSIONS: All patients presented decreased visual acuity and/or visual field defect, often accompanied with headache. It can be misdiagnosed at early stage. MRI may be helpful to the diagnosis. Complete resection at early stage may improve the visual function.

Unexplained loss of vision in a child: consider bilateral primary optic nerve sheath meningioma.

A 4-year-old girl gradually lost her vision to become practically blind at the age of 10 years. Examinations at several medical centers had been unable to establish an etiology. Traditional investigation using cerebral magnetic resonance imaging (MRI) initially showed normal results; however, later on it showed progressive atrophy of both optical nerves without recognizable cause. Subsequently, MRI including adequate orbital sequences, contrast-enhanced sequences, and fat suppression demonstrated bilateral primary optic nerve sheath meningioma, a rare but treatable tumor of childhood. The patient underwent neurosurgery and to date retains minimal vision. Adequate neuroradiological investigation of unexplained optic atrophy is advocated.

Unusual chiasmal visual field defects.

Masses beneath the chiasm usually cause superiorly denser field defects. This report showed two very rare field defects related with infrachiasmal compression, monocular inferotemporal quadrantanopia in Case 1 and monocular temporal and inferonasal field defect in Case 2. We presume that these very rare visual field defects might be caused by a compression between the mass and the anterior cerebral artery. The detailed anatomic relations of the compressed optic chiasm between the mass and the anterior cerebral artery are best revealed on a coronal T2-weighted image with a section thickness of 3 mm or less, and a routine brain MRI with a larger section thickness may not reveal such findings. Therefore, appropriate resolutions and a meticulous review of MR imaging may provide the clues to the etiology of these visual defects. In conclusion, the clinician should be aware that such unusual visual field defects could also be caused by a compression between the mass and anterior cerebral arteries.