Enlargement Of Optic Nerve Research Articles

Morning Glory Disc Anomaly: Expanding the MR Phenotype.

Morning glory disc anomaly (MGDA) is a congenital malformation characterized by a funnel-shaped optic disc excavation with radiating vessels and a central glial tuft. Imaging is essential to evaluate associated cephalocele and steno-occlusive vasculopathy. The goal of this study was to assess optic nerve, chiasmatic, and sphenoid bone morphology in MGDA. This retrospective study examined all subjects with funduscopically confirmed MGDA diagnosed and imaged with brain MR imaging between 2008 and 2023. Thirty-two children met inclusion criteria. Ocular involvement was unilateral in 29 subjects and bilateral in 3. Segmental optic nerve enlargement ipsilateral to the MGDA was seen in 21 subjects, with 3 also demonstrating a segmental reduction in the size of the ipsilateral optic nerve. Segmental reduction in the size of the ipsilateral optic nerve was present in 3 additional subjects, one with bilateral MGDA. The optic chiasm appeared asymmetrically thickened in 21 subjects, often with deformity. The optic nerves appeared normal in signal intensity in all subjects, with faint peripheral chiasmatic enhancement in 4 of 20 patients who received contrast. Optic nerve findings were stable in 15 subjects with multiple examinations. A persistent craniopharyngeal canal was identified in 17 subjects with sphenoid cephalocele in 1 and mild inferior pituitary gland displacement in 4. Tubular or nodular nasopharyngeal lesions were seen in 10 subjects. One subject had an off-midline sphenoid bone cleft, midbrain deformity, and abnormal thickening of and enhancement around the left oculomotor nerve; the oculomotor nerve finding was present in 1 additional patient. MGDA often manifests with ipsilateral optic nerve thickening, leading to a potential misdiagnosis as optic glioma. MGDA is also commonly associated with a persistent craniopharyngeal canal with variable pituitary gland and infundibular deformity, cephalocele, and tubular or nodular nasopharyngeal lesions.

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study

PurposeTo report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.MethodsA 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.259G>A, [p.(Glu87Lys)].ResultsVisual acuity was 20/40 OD and 20/30 OS. Examination showed bilateral enlarged optic nerve heads and increased disc cupping, multiple cilioretinal arteries, a pigmentary maculopathy with stellate-shaped region of hypoautofluorescence, shallow serous macular detachment, subretinal deposits and temporal avascular retina. Angiography showed no source of leakage and absence of retinal neovascularisation despite extensive peripheral non perfusion. Electrophysiological assessments demonstrated mild progressive rod and cone pathway abnormalities, reduced light-adapted b:a ratio, and reduced Arden ratio on electro-oculogram. Ten-year follow-up confirmed a stable disease course despite persistent submacular fluid. There was no associated pituitary structural abnormality or dysfunction.ConclusionsThis case study contributes to further understanding of OTX2-associated pattern dystrophy, highlighting its stability over 10 years. Further investigation into inter-individual and intrafamilial variability is warranted.

Leukemic Optic Neuropathy in Pediatric Patients: A Case Series.

To characterize the presentation, clinical course, and treatment of a series of children with leukemic optic neuropathy. Patients with leukemia who were treated at a tertiary children's hospital for optic nerve infiltration were included (n = 11). Demographic information, cancer history, ophthalmologic examination findings, treatment, and outcomes were retrospectively collected. Mean age was 10.0 ± 4.8 years, and 63.6% were male and 36.4% were female. The most common underlying oncologic diagnosis was B-precursor acute lymphoblastic leukemia (n = 7, 63.6%). Notably, the majority presented with optic nerve infiltration during presumed remission (n = 9, 81.8%), but 2 patients (18.2%) presented with optic nerve infiltration at their initial leukemia diagnosis. Cerebrospinal fluid was positive for leukemic cells in 36.4% of patients. Magnetic resonance imaging demonstrated optic nerve enhancement and/or enlargement in only 8 patients (72.7%). In addition to other leukemia-directed treatment, 8 patients (72.7%) received emergent local radiation within 1.5 ± 1.2 days of initial ophthalmology examination. The largely negative cerebrospinal fluid results and variable magnetic resonance imaging findings in this study emphasize the importance of clinical context for this diagnosis. Clinicians should consider optic nerve infiltration in patients with leukemia and visual or ocular complaints, because urgent treatment is required to preserve vision and manage systemic disease. [J Pediatr Ophthalmol Strabismus. 2024;61(1):67-72.].

MALT Lymphoma Presenting as Symptomatic Optic Neuritis: A Case Report (P14-13.001)

<h3>Objective:</h3> To report a case of MALT lymphoma presenting as optic neuritis and highlight its inherent diagnostic challenges. <h3>Background:</h3> Optic neuritis (ON) is the inflammation of the optic nerve associated with multiple sclerosis,. ON with atypical clinical features require thorough evaluation. Primary ocular adnexal lymphomas are the most common orbital tumors, and IgG4-related ocular disease also presents with optic neuropathy and consists of morphologically similar immune infiltrates. Their diagnoses are challenging as corticosteroids can incur non-diagnostic biopsies, complicating further workup. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> 51-year-old healthy African American woman presented with one month of progressive left monocular blurry vision, color desaturation and_pain. Exam showed left visual acuity of 20/60, afferent pupillary defect, and 0/13 Ishihara plates identified in left eye. Remainder of exam was intact. MRI demonstrated left optic nerve sheath enhancement and enlargement. Another enhancing lesion was identified in the right inferior orbit. Despite visual impairment, corticosteroids were deferred prioritizing diagnostic tests. Workup was negative for autoimmunity, systemic neoplasm, and infection. CSF showed a bland profile without malignant cells. Serum and CSF IL2 receptor levels returned normal. Oligoclonal bands and IgG were elevated in serum and CSF; IgG4 levels were high at 156, raising concern for IgG4-related ocular disease. Right intra-orbital mass biopsy demonstrated atypical CD20+ lymphoid infiltrates with rare germinal centers, but &lt;10% plasma cells expressed IgG4. Further molecular analysis was positive for monoclonal IgH gene rearrangement, diagnosing mucosa-associated lymphoid tissue (MALT) lymphoma in the right orbit and probable left optic nerve involvement. She was initiated on bendamustine and rituximab with stabilization of her ocular symptoms. <h3>Conclusions:</h3> Atypical presentations of ON warrant thorough workup. IgG4-related ocular disease and ocular adnexal MALT lymphoma share similarities that require histologic and molecular analysis to differentiate. Early identification of MALT lymphoma is crucial to initiate proper therapies, maintain disease control, and preserve visual acuity. <b>Disclosure:</b> Dr. Jia has nothing to disclose. Ms. Wyckoff has nothing to disclose. Dr. Cohen has nothing to disclose. Dr. Bryar has nothing to disclose. Dr. Lukas has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck and Company, Inc.. Dr. Lukas has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Merck and Company, Inc.. Dr. Lukas has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Novocure. Dr. Lukas has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for EBSCO. Dr. Lukas has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Medlink Neurology. Dr. Lukas has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Lukas has received research support from BMS. The institution of Dr. Lukas has received research support from BrainUp. The institution of Dr. Lukas has received research support from National Cancer Institute. The institution of Dr. Lukas has received research support from National Cancer Institute. The institution of Dr. Lukas has received research support from Ziopharm. Dr. Dixit has nothing to disclose.

Optic nerve sheath diameter measurements using ultrasonography to diagnose raised intracranial pressure in preeclampsia: an observational study

To estimate the incidence of raised intracranial pressure (ICP) as evident by enlarged optic nerve sheath diameter (ONSD) by ocular ultrasound among patients with preeclampsia and its relationship to severity of disease. Sixty pregnant mothers with preeclampsia were compared to 30 normotensive, uncomplicated pregnant controls. For ONSD measurement, a 7-MHZ linear probe was used and three values from each optic nerve were taken and the mean of six values of both eyes was recorded. All study subjects were followed until seven days after delivery. Two cut off values (5.8 mm and 4.6 mm) were used to compare ONSD in severe and non-severe preeclampsia with that of healthy pregnant individuals. The incidence of raised ICP among severe preeclampsia above 5.8 mm and 4.6 mm cut-off were 43.3% and 90%, respectively, before delivery. ONSD was significantly elevated among preeclampsia subjects at both cut-off values at pre-delivery (p=0.004 for ONSD >5.8 mm and p<0.001 for ONSD >4.6 mm) compared to controls. There a significant association between presence of neurological manifestations and enlarged ONSD (p<0.001 for ONSD >5.8 mm and p=0.04 for ONSD >4.6 mm) before delivery. Severe preeclampsia with neurological features was associated with increased ONSD, reflecting raised ICP. Further studies are needed to compare ONSD values with invasive ICP monitoring for better understanding of this relationship.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) as a novel presentation of CNS autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome (WAS)

Objective Report a novel case of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) presenting as relapsing bilateral optic neuritis in a pediatric patient with Wiskott-Aldrich syndrome (WAS). Background WAS is a rare X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Known CNS autoimmune manifestations include cerebral vasculitis, but optic neuritis, CNS demyelination, and MOGAD have not been previously reported. Design/Methods Chart review Results A 5-year-old boy with a history of chronic immune thrombocytopenia, hypogammaglobulinemia, anemia, and focal epilepsy developed binocular vision loss. MRI of the brain demonstrated enlargement of bilateral optic nerves with marked enhancement of the nerve sheaths consistent with optic neuritis, as well as multiple small enhancing supratentorial lesions. He was treated with pulse methylprednisolone followed by oral steroid taper, and he returned to baseline with no reported residual visual deficits. Five months later, he experienced a relapse of bilateral vision loss, and repeat MRI re-demonstrated bilateral optic neuritis as well as resolution of prior brain lesions. He was treated with repeat course of steroids and experienced moderate improvement in his vision. Rituximab was then initiated to prevent further relapses of optic neuritis while treating his chronic suspected immune-mediated thrombocytopenia. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of MOGAD. At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression consistent with a diagnosis of WAS. Conclusions We describe a case of pediatric MOGAD presenting with multiphasic bilateral optic neuritis in a patient with WAS. This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform indications for therapeutic options such as bone marrow transplant.

Teaching NeuroImage: Glioblastoma Multiforme Presenting as Optic Neuropathy.

A 63-year-old man presented with sudden vision loss in the right eye. Funduscopic examination revealed right severe disc edema with peripapillary hemorrhages with no abnormality on the left (Figure 1, A and B). Orbit and brain MRI's showed an extensive enhancing lesion with restricted diffusion involving the right optic nerve (Figure 1, C–F) and FLAIR hyperintense lesions in the right hippocampus (Figure 2A) and parietal lobe (Figure 2, C and D). The patient received oral corticosteroids followed by plasma exchange. Owing to lack of clinical improvement, a new brain MRI was obtained, showing an enlargement of the lesions (Figure 2, E–H). The biopsy of the parietal lesion confirmed the diagnosis of glioblastoma multiforme (GBM). Visual deficit as initial presentation of GBM is rare (13%).1 A neoplastic origin of an optic neuropathy should be considered in enlarged optic nerve with persistent enhancement and marked MRI diffusion restriction.2

Effects of Androgen Deprivation Therapy on Extraocular Muscles, Retrobulbar Orbital Fat, and the Optic Nerve in Patients with Prostate Cancer

Introduction: The aim of this study was to evaluate radiologically the effects of long-term luteinizing hormone-releasing hormone (LHRH) agonist therapy on extraocular muscle thickness, retrobulbar orbital fat (ROF), and the optic nerve (ON) in prostate cancer (PCa) patients. Methods: The retrospective study included patients with primary or recurrent PCa who received androgen deprivation therapy (ADT) for at least 12 months. Each patient underwent gallium-68 prostate-specific membrane antigen positron emission tomography-computed tomography both before and at the end of the 12-month treatment. Thickness of the ON, lateral rectus muscle, medial rectus muscle, superior rectus muscle, and inferior rectus muscle were measured by using the coronal CT sections in soft tissue window. ROF, ocular protrusion, and ON length were measured in sagittal and coronal planes. Changes in these anatomical structures induced by LHRH analogs were investigated by comparing pre- and post-treatment measurements. Results: A total of 57 patients were included in the study. Median PSA and TT values ​​of the patients before treatment were 36.5 (range, 19.6–51.2) ng/mL and 614.0 (range, 472.0–743.0) ng/dL, respectively, and these values ​​decreased significantly after the treatment (10.6 [range, 5.2–14.2] ng/mL and 36.5 [range, 19.6–51.2] ng/dL, respectively, p < 0.001 for both). After the treatment, there was a statistically significant decrease in the areas of inferior rectus muscle, superior rectus muscle, lateral rectus muscle, and medial rectus muscle (p < 0.001 for all), while significant increases were observed in ROF (11.9%, p < 0.001) and ON thickness (14.3%, p = 0.004). The amount of ocular protrusion also showed a significant increase of approximately 14% after the treatment (14.0 [range, 12.0–16.0] mm vs. 16.0 [range, 14.0–17.2] mm, p < 0.001). Discussion/Conclusion: Our findings, for the first time in the literature, indicated that ADT causes a decrease in extraocular muscle mass and an increase in ROF with ocular protrusion. It can be asserted that these changes are similar to the changes in skeletal muscle and fat mass in other body parts. Further studies with a higher level of evidence are needed to clinically evaluate the increase in ocular protrusion and ON enlargement, which are likely to be caused by the increase in ROF.

Diffusion-Weighted MR Imaging of the Optic Nerve Can Improve the Detection of Post-Laminar Optic Nerve Invasion from Retinoblastoma.

Post-laminar optic nerve invasion (PLONI) is a high-risk factor for the metastasis of retinoblastoma (RB). Unlike conventional MRI, diffusion-weighted imaging (DWI) reflects histopathological features, and may aid the assessment of PLONI. To determine the value of conventional MRI plus DWI in detecting PLONI in RB patients. Retrospective. Eighty-three RB patients, including 28 with histopathologically proven PLONI and 55 without PLONI. 3.0 T, precontrast axial T1-weighted and T2-weighted imaging, DWI, and postcontrast axial, coronal, and oblique-sagittal T1-weighted imaging. PLONI was assessed using post-enucleation histology and preoperative MRI features (optic nerve signal intensity, enlargement, and enhancement on conventional MRI, and apparent diffusion coefficient [ADC] of the optic nerve on DWI) evaluated by three observers. MRI features suggesting the presence of PLONI were identified using univariable and multivariable analyses. Receiver operating characteristic (ROC) curve and area under the curve (AUC) were used to analyze diagnostic performance. Optic nerve enhancement and low ADC of the optic nerve were significant indicators of PLONI. ROC curve analysis showed that the AUC of the combination of these two features for detecting PLONI was 0.87 (95% confidence interval [CI]: 0.78-0.93). The diagnostic performance of this model was significantly superior to that of optic nerve enhancement alone (0.76, 95% CI: 0.65-0.85) and marginally superior to that of the ADC of the affected optic nerve (0.78, 95% CI: 0.68-0.87, P=0.051). Conventional MRI combined with DWI can improve the detection of PLONI in RB patients over conventional MRI alone. 3 Technical Efficacy: Stage 2.

Neuro-Ophthalmological Optic Nerve Cupping: An Overview

Optic nerve cupping or enlargement of the cup-to-disc ratio is widely recognized as a feature of glaucoma, however it may also occur in non-glaucomatous optic neuropathies. The most well-recognized non-glaucomatous optic neuropathies that cause cupping include compressive optic neuropathies, arteritic anterior ischemic optic neuropathies, hereditary optic neuropathies, and optic neuritis. Cupping is thought to consist of two main components: prelaminar and laminar thinning. The former is a shallow form of cupping and related to loss of retinal ganglion cells, whereas the latter involves damage to the lamina cribrosa and peripapillary scleral connective tissue. Differentiating glaucomatous and non-glaucomatous optic nerve cupping remains challenging even for experienced observers. Classically, the optic nerve in non-glaucomatous causes has pallor of the neuroretinal rim, but the optic nerve should not be examined in isolation. The patient’s medical history, history of presenting illness, visual function (visual acuity, color vision and visual field testing) and ocular examination also need to be considered. Ancillary testing such as optical coherence tomography of the retinal nerve fiber layer and ganglion cell layer-inner plexiform layer may also be helpful in localizing the disease. In this review, we review the non-glaucomatous causes of cupping and provide an approach to evaluating a patient that presents with an enlarged cup-to-disc ratio.

Highlights from Recent Cancer Literature

Highlights from Recent Cancer Literature

Remote Screening for Optic Nerve Cupping Using Smartphone-based Nonmydriatic Fundus Photography.

Evaluation of nonmydriatic fundus photographs captured with a low-cost, smartphone-based camera facilitated remote screening of patients for enlarged optic nerve cup-to-disc ratio in the Independent Nation of Samoa, an underserved setting with one full-time ophthalmologist in the entire country. To investigate factors that impact inter-rater agreement of glaucoma suspect optic disc status using a low-cost, handheld nonmydriatic fundus camera. Color fundus photographs were obtained using the PanOptic iExaminer attached to an iPhone 6S by a lay examiner on 206 participants in the Independent Nation of Samoa. Images were remotely graded by an ophthalmologist and optometrist, and images from participants identified as at-risk for glaucoma were escalated to a glaucoma subspecialist for review. Fundus photo brightness, contrast, and focus were measured using the cup, rim, and temporal regions of the disc. Stereoscopic image pairs were subsequently generated from a subset of individual nonmydriatic photographs. Features suggestive of glaucoma based on optic disc cupping were identified in 16.0% (33/206) of participants. There was moderately strong agreement between graders (90.3%) with κ=0.53 [95% confidence interval (CI)=0.33-0.73]. The intraclass correlation coefficients for the cup-to-disc ratio (CDR) and its difference were 0.84 (95% CI=0.81-0.87) and 0.68 (95% CI=0.59-0.75). Of the 33 participants identified, 94% had clinical risk criteria for potential glaucoma when reviewed by a subspecialist. Color fundus photograph cup brightness was significantly associated with cup-to-disc (CDR) grade, R2=0.36 (P<0.001), in which a brighter disc yielded a higher CDR. Smartphone-based screening is a simple, low-cost method capable of measuring the CDR of the optic nerve. When combined with testing for other glaucoma risk factors such as intraocular pressure, this method of measuring CDR may help identify those patients who should be referred for further ophthalmologic assessment. We are currently conducting studies to assess the sensitivity and specificity of smart phone-based remote screening.

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

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. 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. 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]). 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.

Ultrasonographic optic nerve sheath diameter correlation with ICP and accuracy as a tool for noninvasive surrogate ICP measurement in patients with decompressive craniotomy.

Increased intracranial pressure (ICP) results in enlarged optic nerve sheath diameter (ONSD). In this study the authors aimed to assess the association of ONSD and ICP in severe traumatic brain injury (TBI) after decompressive craniotomy (DC). ONSDs were measured by ocular ultrasonography in 40 healthy control adults. ICPs were monitored invasively with a microsensor at 6 hours and 24 hours after DC operation in 35 TBI patients. ONSDs were measured at the same time in these patients. Patients were assigned to 3 groups according to ICP levels, including normal (ICP ≤ 13 mm Hg), mildly elevated (ICP = 14-22 mm Hg), and severely elevated (ICP > 22 mm Hg) groups. ONSDs were compared between healthy control adults and TBI cases with DC. Then, the association of ONSD with ICP was analyzed using Pearson's correlation coefficient, linear regression analysis, and receiver operator characteristic curves. Seventy ICP measurements were obtained among 35 TBI patients after DC, including 25, 27, and 18 measurements in the normal, mildly elevated, and severely elevated ICP groups, respectively. Mean ONSDs were 4.09 ± 0.38 mm in the control group and 4.92 ± 0.37, 5.77 ± 0.41, and 6.52 ± 0.44 mm in the normal, mildly elevated, and severely elevated ICP groups, respectively (p < 0.001). A significant linear correlation was found between ONSD and ICP (r = 0.771, p < 0.0001). Enlarged ONSD was a robust predictor of elevated ICP. With an ONSD cutoff of 5.48 mm (ICP > 13 mm Hg), sensitivity and specificity were 91.1% and 88.0%, respectively; a cutoff of 5.83 mm (ICP > 22 mm Hg) yielded sensitivity and specificity of 94.4% and 81.0%, respectively. Ultrasonographic ONSD is strongly correlated with invasive ICP measurements and may serve as a sensitive and noninvasive method for detecting elevated ICP in TBI patients after DC.

Elevated Optic Disc Height and Increased Optic Nerve Sheath Diameter on Bedside Ultrasound in a Pediatric Patient With Orbital Cellulitis: More Than Meets the Eye

BackgroundOrbital cellulitis is an uncommon ophthalmological emergency in children, but rapid emergency department (ED) diagnosis is essential. Case ReportA 13-year-old boy presented to our pediatric ED with left orbital cellulitis secondary to pansinusitis. Emergency bedside ocular ultrasonography was used to evaluate and expedite his management. Besides inflammatory changes observed on ultrasound of his affected orbit, the patient had an elevated optic disc height and increased nerve sheath diameter, which were not commonly reported in published literature on orbital cellulitis. Emergent computed tomography of the orbits and head showed orbital cellulitis without complications of orbital abscess or cavernous sinus thrombosis. Despite initiating early appropriate antibiotics, there was rapid progression of his disease and he developed intraconal abscess and cavernous sinus thrombosis the following day. After emergency surgical drainage of his pansinusitis, antibiotics, and anticoagulation, he was discharged well after a 2-week hospitalization. Why Should an Emergency Physician Be Aware of This?There are important advantages of using bedside ultrasonography for diagnosis of pediatric orbital cellulitis in the ED setting. Further research should be done to evaluate the clinical significance of an enlarged optic nerve sheath diameter and raised optic disc height in pediatric orbital cellulitis.

Malformação vascular retinoencefálica, síndrome de Wyburn-Mason

A síndrome de Wyburn-Mason constitui-se na presença de malformações arteriovenosas comumente localizadas na órbita, nos anexos oculares, na retina e no encéfalo, principalmente no mesencéfalo. Existem apenas 14 casos dessa rara doença congênita relatados na literatura, sendo apresentados os achados clínicos e radiológicos de um paciente de 31 anos de idade com esse diagnóstico desde os 7 anos. Ao exame neurológico apresenta amaurose à direita e visão normal à esquerda. Os exames de imagem evidenciaram malformação arteriovenosa envolvendo vasos orbitários direitos e espessamento do nervo óptico direito até a região opticoquiasmática. Em virtude da grande morbidade do tratamento cirúrgico, desde o momento do diagnóstico foi instituído tratamento conservador, tendo até o momento ocorrido evolução sem intercorrências.

Optic Nerve Infiltration in Primary Central Nervous System Lymphoma

Visual impairment in primary central nervous system lymphoma (PCNSL) is caused mostly by intraocular lymphomatous involvement (vitritis and retinal infiltration), whereas optic nerve infiltration (ONI) is a rare condition. To describe the clinical presentation of ONI, its imaging characteristics, and outcome. A total of 752 patients diagnosed with PCNSL were retrospectively identified from the databases of 3 French hospitals from January 1, 1998, through December 31, 2014. Of these, 7 patients had documented ONI. Exclusion criteria were intraocular involvement, orbital lymphoma, or other systemic lymphoma. Clinical presentation, neuroimaging, biological features, treatment, and outcomes were assessed. Treatment response was evaluated clinically and radiologically on follow-up magnetic resonance imaging (MRI) according to the International PCNSL Collaborative Group response criteria. The 7 patients included 5 women and 2 men. Median age at diagnosis was 65 years (range, 49-78 years). Two patients had initial ONI at diagnosis, and 5 had ONI at relapse. Clinical presentation was marked by rapidly progressive and severe visual impairment for all patients. The MRI findings showed optic nerve enlargement in 3 patients and contrast enhancement of the optic nerve in all patients. Additional CNS lesions were seen in 4 patients. Examination of cerebrospinal fluid samples detected lymphomatous meningitis in 2 patients. Clinical outcome was poor and marked by partial recovery for 2 patients and persistent severe low visual acuity or blindness for 5 patients. Median progression-free survival after optic nerve infiltration was 11 months (95% CI, 9-13 months), and median overall survival was 18 months (95% CI, 9-27 months). Optic nerve infiltration is an atypical and challenging presentation of PCNSL. Its visual and systemic prognosis is particularly poor compared with vitreoretinal lymphomas even in response to chemotherapy. Although intraocular involvement is frequent in PCNSL and clinically marked by slowly progressive visual deterioration, lymphomatous ONI is rare and characterized by rapidly progressive severe visual impairment.

Krabbe disease: An unusual presentation of optic nerve enlargement

No abstract available.

Splice‐site mutation in the Bmpr1b gene of the mouse causes optic nerve head dysgenesis and retinal gliosis

PurposeA novel splice‐site mutation of the Bmpr1b gene was characterized in offspring of N‐ethyl‐N‐nitrosourea (ENU) ‐treated mice; besides irregular limb morphology the mutants show an enlarged optic nerve head.MethodsEye development of Bmpr1b mutants was analyzed for Bmp signalling via SMAD1 and 5, and for the expression of PAX2 as a transcription factor important for proper optic nerve head development.ResultsBMP signalling indicated by the presence of phosphorylated SMAD1 and 5 was first observed in a few regions of the developing lens capsule and of the developing retina of mouse embryos at day 11.5 after fertilization. At this stage, no differences in SMAD1/5 phosphorylation have been observed between wild‐type mice and the mutants. However, at the end of embryonic development (E17.5) and in the first days after birth (P7), higher concentrations of phosphorylated SMAD1/5 proteins are found at the optic nerve head region, whereas in the Bmpr1b mutants, the BMP signalling is dramatically reduced indicated by a significant loss of pSMAD1/5 staining. The clear reduction of the pSMAD1/5 in heterozygous and homozygous Bmpr1b mutants leads to a stronger optic disc cupping and to the formation of retinal gliosis indicated by the presence of disorganized and activated astrocytes. Loss of BMP‐mediated signalling in the Bmpr1b mouse mutants is also accompanied by a decrease of Pax2 expression at the optic nerve head region towards the end of embryonic development resulting in an additional line of arguments for the rather specific effect at the optic nerve head.ConclusionsThe T‐G mutation in the splice donor site of exon 10 of the Bmpr1b gene leads to retinal gliosis and hypoplasia of the optic nerve head, which is mainly caused by the repression of BMP‐mediated signalling.

Krabbe disease – An unusual presentation of optic nerve enlargement

Krabbe disease is an autosomal recessive leukodystrophy that presents clinically with regression of milestones, excessive irritability and inconsolable crying. The pathologic basis of the disease is abnormal myelin metabolism resulting from a deficiency in the galactocerebrosidase enzyme with subsequent white matter destruction. Although optic atrophy is a classic presentation of Krabbe disease, we report on two patients who are biological brothers presenting with optic nerve enlargement in addition to other typical magnetic resonance imaging features of Krabbe disease, thereby confounding the initial diagnosis.