Consortium for Pediatric Neuro-Ophthalmologists: Case 4 Discussant (video)

The purpose of this optional symposium, presented by members of the Consortium of Pediatric Neuro- Ophthalmologists (CPNO), is to review the assessment of vision during infancy, highlight important symptoms and signs of common Neuro-Ophthalmic conditions that cause visual dysfunction during infancy, and provide a framework for the diagnostic work up and management of these disease processes

Congenital Cranial Dysinnervation Disorders (Video)

Patients with congenital cranial dysinnervation disorders (CCDD) may present with complex strabismus secondary to dysinnervation of the extraocular muscles. (1-3) Among the CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) is a group of strabismus disorders characterized by blepharoptosis and ophthalmoplegia. Animal models of CFEOM have revealed that the phenotype arises from dysinnervation of oculomotor and/or trochlear nerves (4-6). In humans, this dysinnervation manifests as incomitant strabismus with restriction of both vertical and also horizontal gaze. Historically, patients have been stratified into three phenotypes of CFEOM: 1, 2 and 3; since 2001, the genetic basis of these conditions has been identified.GVScongenitalsyndromesinvolvingtheextraocularmuscle

Consortium for Pediatric Neuro-Ophthalmologists: Overview

The purpose of this optional symposium, presented by members of the Consortium of Pediatric Neuro-Ophthalmologists (CPNO), is to review the assessment of vision during infancy, highlight important symptoms and signs of common Neuro-Ophthalmic conditions that cause visual dysfunction during infancy, and provide a framework for the diagnostic work up and management of these disease processes

Congenital Cranial Dysinnervation Disorders

Patients with congenital cranial dysinnervation disorders (CCDD) may present with complex strabismus secondary to dysinnervation of the extraocular muscles. (1-3) Among the CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) is a group of strabismus disorders characterized by blepharoptosis and ophthalmoplegia. Animal models of CFEOM have revealed that the phenotype arises from dysinnervation of oculomotor and/or trochlear nerves (4-6). In humans, this dysinnervation manifests as incomitant strabismus with restriction of both vertical and also horizontal gaze. Historically, patients have been stratified into three phenotypes of CFEOM: 1, 2 and 3; since 2001, the genetic basis of these conditions has been identified.GVScongenitalsyndromesinvolvingtheextraocularmuscle

Early Evaluation of Infantile Nystagmus Pro and Con - ERG? Image?; Genetic Testing? Genetic Testing Before or After ERG? (Work-Up for Underlying Etiology Which May Include ERG and; Genetic Testing & Observe Without Further Work-up If Otherwise; Neurologically Normal)

Infantile nystagmus syndrome (previously termed congenital nystagmus, congenital motor nystagmus, or sensory nystagmus) is a new term coined by the Classification of Eye Movement Abnormalities and Strabismus (CEMAS) working group which encompasses nystagmus that presents during infancy from a heterogeneous group of etiologies.1 The condition may be idiopathic or may occur in the context of a retinal dystrophy/degeneration or neurodegenerative/systemic disease. Therefore, the clinician must carefully strive to determine underlying cause as this will guide further testing, facilitate appropriate counselling for visual prognosis, and impact broader management when associated with systemic or neurodegenerative disease

Artificial Intelligence to Differentiate Pediatric Pseudopapilledema and True Papilledema on Fundus Photographs

Purpose: To develop and test an artificial intelligence (AI) model to aid in differentiating pediatric pseudopapilledema from true papilledema on fundus photographs. Design: Multicenter retrospective study. Subjects: A total of 851 fundus photographs from 235 children (age 90% sensitivity at detecting papilledema, superior to human experts. Due to the high sensitivity and low false negative rate, AI may be useful to triage children with suspected papilledema requiring work-up to evaluate for serious underlying neurologic conditions. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article

Interocular Difference in Retinal Nerve Fiber Layer Thickness Predicts Optic Neuritis in Pediatric-Onset Multiple Sclerosis

Optical coherence tomography (OCT) is capa- ble of quantifying retinal damage. Defining the extent of anterior visual pathway injury is important in multiple sclerosis (MS) as a way to document evidence of prior disease, including subclinical injury, and setting a baseline for patients early in the course of disease. Retinal nerve fiber layer (RNFL) thickness is typically classified as low if values fall outside of a predefined range for a healthy population. In adults, an interocular difference (IOD) in RNFL thickness greater than 5 mm identified a history of unilateral optic neuritis (ON)

Analysis of patient outcomes following proton radiation therapy for retinoblastoma

Purpose: Proton radiation therapy (PRT) is used to treat patients with retinoblastoma (RB) and has the potential to minimize exposure of normal tissue to radiation and thus decrease the risk of toxicity and second malignancies. However, comprehensive analyses of long-term patient outcomes are not available. Methods and materials: Patients with RB who were treated with PRT at our institution between 1986 and 2012 were invited to participate in a study that was designed to assess long-term outcomes. Patients who were enrolled in the study underwent a comprehensive analysis that included oncologic, ophthalmic, endocrine, cephalometric, and quality of life (QOL) assessments. Results: A total of 12 patients were enrolled in this study. The average length of follow-up was 12.9 years (range, 4.8-22.2 years). All study patients had bilateral disease, and the disease and visual outcomes were similar to the outcomes for all patients with RB who were treated with PRT over the same time period at our institution. An analysis of endocrine-related test results revealed no growth abnormalities or hormonal deficiencies across the cohort. Magnetic resonance imaging scans and external cephalometry showed that PRT was associated with less facial hypoplasia than enucleation. Patient and parent-proxy QOL assessments revealed that treatment for RB did not appear to severely affect long-term QOL. Conclusions: In addition to providing an opportunity for long-term disease control and functional eye preservation, PRT does not appear to be associated with unexpected late visual, endocrine, or QOL effects in this cohort of patients with RB