Scholars@Duke
Mays Antoine Dairi

Mays Antoine Dairi

Professor of Ophthalmology
Ophthalmology, Neuro-Ophthalmology
mays.el-dairi@duke.edu
Box 3802 Med Ctr, Durham, NC 27710
2351 Erwin Road, Box 3802, Durham, NC 27710

Selected Publications

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Journal Article Ophthalmic Genet · February 2025 INTRODUCTION: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, inc ... Full text Link to item Cite

Single-line macular optic coherence tomography to confirm optic neuropathies in awake infants and young children.

Journal Article J AAPOS · August 2024 BACKGROUND: Handheld optical coherence tomography (HH-OCT) can image awake, young children but lacks integrated segmentation/analysis software. OCT imaging of eyes with optic neuropathies demonstrates ganglion cell layer (GCL) and ganglion cell complex (GC ... Full text Link to item Cite

Modernizing the evaluation of infantile nystagmus: the role of handheld optical coherence tomography.

Journal Article J AAPOS · June 2024 BACKGROUND: Infantile nystagmus syndrome can be associated with an afferent problem (anterior or posterior segment) or constitute an isolated idiopathic disorder. With a normal ophthalmic examination, current guidelines recommend electroretinography (ERG) ... Full text Link to item Cite

Performance of VisuALL virtual reality visual field testing in healthy children.

Journal Article J AAPOS · February 2024 BACKGROUND: Virtual reality field testing may provide an alternative to standard automated perimetry. This study evaluates a virtual reality game-based automated perimetry in a healthy pediatric population. METHODS: A prospective series of pediatric patien ... Full text Link to item Cite

Longitudinal Choroidal Development in Preterm Infants.

Journal Article Ophthalmol Sci · 2024 PURPOSE: To characterize changes in subfoveal choroidal thickness in preterm infants from 30 to 60 weeks' postmenstrual age (PMA). DESIGN: The prospective, observational Study of Eye Imaging in Preterm infantS (BabySTEPS) enrolled infants eligible for reti ... Full text Link to item Cite

Performance of virtual reality game-based automated perimetry in patients with childhood glaucoma.

Journal Article J AAPOS · December 2023 PURPOSE: To evaluate VisuALL, a game-based automated perimetry device, utilizing virtual reality (VR) goggles, in a cohort of patients with childhood glaucoma. METHODS: In this prospective series, the results of consecutive patients with childhood glaucoma ... Full text Link to item Cite

Biphasic change in retinal nerve fibre layer thickness from 30 to 60 weeks postmenstrual age in preterm infants.

Journal Article Br J Ophthalmol · November 2023 BACKGROUND/AIMS: The optic nerve development during the critical postnatal weeks of preterm infants is unclear. We aimed to investigate the change of retinal nerve fibre layer (RNFL) in preterm infants. METHODS: We used an investigational handheld optical ... Full text Link to item Cite

Determining relative thickness of inner retinal layers on single-line foveal optical coherence tomography (OCT) in healthy pediatric eyes-normative data for handheld OCT.

Journal Article J AAPOS · October 2023 BACKGROUND: Handheld optical coherence tomography (HH-OCT) lacks integrated segmentation/analysis software. Optic neuropathies cause ganglion cell layer (GCL) thinning, with normal to thickened inner nuclear layer (INL), suggesting the potential value of e ... Full text Link to item Cite

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.

Journal Article Genet Med · September 2023 PURPOSE: Mendelian etiologies for acute encephalopathies in previously healthy children are poorly understood, with the exception of RAN binding protein 2 (RANBP2)-associated acute necrotizing encephalopathy subtype 1 (ANE1). We provide clinical, genetic, ... Full text Link to item Cite

Rates of Visual Field Change in Eyes With Optic Disc Drusen.

Journal Article J Neuroophthalmol · September 1, 2023 BACKGROUND: Optic disc drusen (ODD) are calcified deposits in the prelaminar portion of the optic nerve head. Although often asymptomatic, these deposits can cause progressive visual field defects and vision loss. The purpose of this study was to evaluate ... Full text Link to item Cite

Use of Trametinib in Children and Young Adults With Progressive Low-grade Glioma and Glioneuronal Tumors.

Journal Article J Pediatr Hematol Oncol · May 1, 2023 Low-grade gliomas/glioneuronal tumors comprise one-third of all pediatric-type CNS tumors. These tumors are generally caused by activating mutations in the mitogen-activated protein kinase (MAPK) pathway. Targeted drugs, such as trametinib, have shown prom ... Full text Link to item Cite

Associations between systemic health and retinal nerve fibre layer thickness in preterm infants at 36 weeks postmenstrual age.

Journal Article Br J Ophthalmol · February 2023 BACKGROUND/AIMS: Neonatal insults from systemic diseases have been implicated in the pathway of impaired neurodevelopment in preterm infants. We aimed to investigate the associations between systemic health factors and retinal nerve fibre layer (RNFL) thic ... Full text Link to item Cite

Retinal injury identified by overhead-mounted optical coherence tomography in two young children with infantile-onset glaucoma.

Journal Article J AAPOS · February 2023 PURPOSE: To report and characterize unexpected retinal findings identified by imaging with overhead-mounted optical coherence tomography (OCT) in 2 young children with infantile-onset glaucoma. METHODS: Children with glaucoma were imaged during clinically ... Full text Link to item Cite

Escape from prism.

Journal Article Surv Ophthalmol · 2023 A 14-year-old boy with a history of shunted congenital hydrocephalus began having headaches with nausea and vomiting after transcontinental flights. He gradually developed horizontal diplopia indicative of mild bilateral sixth nerve palsy, without papilled ... Full text Link to item Cite

Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.

Journal Article J Pediatr Ophthalmol Strabismus · 2023 PURPOSE: To report optical coherence tomography (OCT) findings of cherry-red spots from Tay-Sachs and Niemann-Pick disease. METHODS: Consecutive patients with Tay-Sachs and Niemann-Pick disease evaluated by the pediatric transplant and cellular therapy tea ... Full text Link to item Cite

Optic Neuritis Associated with Neuromyelitis Optica: A Teenager with Painful Blurred Vision

Chapter · January 1, 2023 Neuromyelitis Optica may present with optic neuritis, myelitis or both. Given the high risk for disability, early diagnosis and management of the acute presentation are of utmost importance. Patients usually need long term immune suppression to avoid recur ... Full text Cite

Intraoperative Mounted Optical Coherence Tomography Findings Following Reversal of Optic Nerve Head Cupping in Childhood Glaucoma.

Journal Article Am J Ophthalmol · November 2022 PURPOSE: To examine the structural changes occurring in the optic nerve head (ONH) and macula in infants with childhood glaucoma and clinically observed ONH cupping reversal following intraocular pressure (IOP)-reducing glaucoma surgery, as captured by int ... Full text Link to item Cite

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Journal Article Hum Mol Genet · August 25, 2022 DROSHA encodes a ribonuclease that is a subunit of the Microprocessor complex and is involved in the first step of microRNA (miRNA) biogenesis. To date, DROSHA has not yet been associated with a Mendelian disease. Here, we describe two individuals with pro ... Full text Open Access Link to item Cite

Preterm Infant Stress During Handheld Optical Coherence Tomography vs Binocular Indirect Ophthalmoscopy Examination for Retinopathy of Prematurity.

Journal Article JAMA Ophthalmol · May 1, 2021 IMPORTANCE: Binocular indirect ophthalmoscopy (BIO) examination for retinopathy of prematurity (ROP) is a well-known cause of repeated preterm infant stress. OBJECTIVE: To compare stress during investigational optical coherence tomography (OCT) imaging to ... Full text Link to item Cite

QUANTITATIVE TOPOGRAPHIC CURVATURE MAPS OF THE POSTERIOR EYE UTILIZING OPTICAL COHERENCE TOMOGRAPHY.

Journal Article Retina · April 1, 2021 PURPOSE: Deformations of the retina such as staphylomas in myopia or scleral flattening in high intracranial pressure can be challenging to quantify with en face imaging. We describe an optical coherence tomography-based method for the generation of quanti ... Full text Open Access Link to item Cite

Magnetic Resonance Imaging Abnormalities of the Optic Nerve Sheath and Intracranial Internal Carotid Artery in Giant Cell Arteritis.

Journal Article J Neuroophthalmol · March 1, 2021 BACKGROUND: Giant cell arteritis (GCA) is an important diagnostic consideration in elderly patients with vision changes. Superficial temporal artery biopsy (TAB) has long been considered the gold standard diagnostic approach for GCA, but MRI has gained int ... Full text Link to item Cite

Birth Weight Is a Significant Predictor of Retinal Nerve Fiber Layer Thickness at 36 Weeks Postmenstrual Age in Preterm Infants.

Journal Article Am J Ophthalmol · February 2021 PURPOSE: To assess retinal nerve fiber layer (RNFL) thickness in preterm infants. DESIGN: Prospective observational study. METHODS: We imaged 83 awake infants (159 eyes) at 36 ± 1 weeks postmenstrual age (defined as the time elapsed between the first day o ... Full text Link to item Cite

Acute Onset Variable and Progressive Trochlear Nerve Palsy and Ophthalmoparesis Secondary to Bilateral Carotid Cavernous Fistula.

Journal Article J Binocul Vis Ocul Motil · 2021 Purpose: To describe a patient who presented with right unilateral white-eyed posteriorly-draining carotid-cavernous fistulas (CCF) causing an isolated, acute-onset trochlear nerve palsy with atypical progression to a contralateral left red-eyed anteriorly ... Full text Link to item Cite

Subclinical Retinal versus Brain Findings in Infants with Hypoxic Ischemic Encephalopathy.

Journal Article Graefes Arch Clin Exp Ophthalmol · September 2020 PURPOSE: To detect retinal features and abnormalities on optical coherence tomography (OCT) without pupil dilation and relate these to brain injury in infants with a clinical diagnosis of hypoxic ischemic encephalopathy (HIE). METHODS: Under an institution ... Full text Link to item Cite

Overhead Mounted Optical Coherence Tomography in Childhood Glaucoma Evaluation.

Journal Article J Glaucoma · September 2020 UNLABELLED: PRéCIS:: Overhead mounted spectral-domain optical coherence tomography (OCT) enables high-quality imaging of the optic nerve and macula in childhood glaucoma, and is particularly useful when standard tabletop OCT has failed or is not possible. ... Full text Link to item Cite

Presentation and Progression of Papilledema in Cerebral Venous Sinus Thrombosis.

Journal Article Am J Ophthalmol · May 2020 PURPOSE: To determine the natural history and visual outcomes of papilledema in cerebral venous sinus thrombosis (CVST). DESIGN: Retrospective observational case series. METHODS: This multicenter study included 7 tertiary care neuro-ophthalmology clinics. ... Full text Link to item Cite

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Journal Article J Clin Invest · January 2, 2020 Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with mito ... Full text Link to item Cite

Appearance of pediatric choroidal neovascular membranes on optical coherence tomography angiography.

Journal Article Graefes Arch Clin Exp Ophthalmol · January 2020 PURPOSE: Compared with fluorescein angiography (FA), the gold standard for diagnosing choroidal neovascularization (CNV) activity, optical coherence tomography angiography (OCTA) is non-invasive without risks associated with fluorescein dye use, and may be ... Full text Link to item Cite

Optical Coherence Tomography Normative Peripapillary Retinal Nerve Fiber Layer and Macular Data in Children 0-5 Years of Age.

Journal Article Am J Ophthalmol · December 2019 PURPOSE: To determine reference values for the peripapillary retinal nerve fiber layer (pRNFL) and macula in children 0-5 years of age. DESIGN: Prospective cross-sectional study. METHODS: This study was set in a single large academic pediatric ophthalmolog ... Full text Link to item Cite

Assessment of Macular Microvasculature in Healthy Eyes of Infants and Children Using OCT Angiography.

Journal Article Ophthalmology · December 2019 PURPOSE: To assess macular vasculature in healthy infants and children using OCT angiography (OCTA). DESIGN: Prospective cross-sectional study. PARTICIPANTS: One hundred thirty-five normal maculae of 89 healthy infants and children (mean age, 8.5±5.3 years ... Full text Open Access Link to item Cite

Handheld Optical Coherence Tomography Normative Inner Retinal Layer Measurements for Children <5 Years of Age.

Journal Article Am J Ophthalmol · November 2019 PURPOSE: Measurements of the ganglion cell complex (GCC), comprising the retinal nerve fiber (RNFL), ganglion cell, and inner plexiform layers, can be correlated with vision loss caused by optic nerve disease. Handheld optical coherence tomography (HH-OCT) ... Full text Link to item Cite

Longitudinal reproducibility of spectral domain optical coherence tomography in children with physiologic cupping and stable glaucoma.

Journal Article J AAPOS · October 2019 PURPOSE: To determine whether Spectralis (Heidelberg, Germany) spectral domain optical coherence tomography (SD-OCT) measurements are reproducible over time in children with physiologic cupping and stable glaucoma. METHODS: Subjects were identified from a ... Full text Link to item Cite

LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.

Journal Article Retina · January 2019 PURPOSE: To explore vitreoretinal pathologies and their longitudinal changes visible on handheld optical coherence tomography (OCT) of young children with familial exudative vitreoretinopathy. METHODS: The authors retrospectively analyzed handheld OCT imag ... Full text Link to item Cite

Hyperreflective Vitreous Opacities on Optical Coherence Tomography in a Patient With Bilateral Retinoblastoma.

Journal Article Ophthalmic Surg Lasers Imaging Retina · January 1, 2019 An investigational, portable spectral-domain optical coherence tomography (SD-OCT) unit revealed small hyperreflective opacities in both eyes of a patient with bilateral retinoblastoma. There was no evidence of vitreous seeding on ophthalmoscopy of either ... Full text Link to item Cite

Papilledema and disc swelling versus traction elevation

Chapter · January 1, 2019 This chapter discusses the clinical and OCT findings of papilledema by using examples from before and after treatment. ... Full text Cite

Neuroretinitis

Chapter · January 1, 2019 This chapter discusses neuroretinitis and demonstrates optical coherence tomography (OCT) findings. ... Full text Cite

Optic neuritis and multiple sclerosis

Chapter · January 1, 2019 This chapter discusses the use of optical coherence tomography (OCT) in pediatric optic neuritis. ... Full text Cite

Optic nerve pit

Chapter · January 1, 2019 This chapter covers the topic of optic nerve head pit and demonstrates an example with an optic nerve head scan. ... Full text Cite

OCT and OCTA image capture in the nursery, clinic, and operating room

Chapter · January 1, 2019 Different scan protocols are useful when performing optical coherence tomography (OCT) on a cooperative patient who is able to fixate versus on an infant or young child. Although there are overlaps in scan acquisition patterns across different commercial s ... Full text Cite

Optic nerve hypoplasia

Chapter · January 1, 2019 Optic nerve hypoplasia is a congenital anomaly in which the optic disc is abnormally small and is associated with other neurodevelopmental disorders. Optical coherence tomography (OCT) can be used to measure the retinal nerve fiber layer and can add quanti ... Full text Cite

Optic nerve coloboma

Chapter · January 1, 2019 This chapter describes the optical coherence tomography (OCT) findings of optic nerve colobomas. ... Full text Cite

Normal optic nerve head: Anatomy and development

Chapter · January 1, 2019 This chapter discusses normal optic nerve head anatomy and development, as demonstrated by OCT, which has provided quantitative values of the pediatric optic nerve. ... Full text Cite

Tilting of the disc and megalopapilla

Chapter · January 1, 2019 Megalopapilla and tilted optic disc are usually incidental findings, not requiring treatment, and are associated with a generally good visual prognosis. Other progressive diseases of eye (e.g., glaucoma) should be ruled out when diagnosing these anomalies. ... Full text Cite

Optic nerve head abnormalities

Chapter · January 1, 2019 Optical coherence tomography (OCT) has been revolutionary in the diagnosis and management of optic nerve abnormalities, adding quantifiable information that can be correlated with clinical examination findings. ... Full text Cite

Optic nerve glioma

Chapter · January 1, 2019 This chapter discusses optic pathway gliomas and OCT findings, as well as clinical correlations. ... Full text Cite

Optic atrophy

Chapter · January 1, 2019 This chapter discusses the use of optical coherence tomography (OCT) in the setting of optic atrophy. ... Full text Cite

Morning glory

Chapter · January 1, 2019 This chapter describes optical coherence tomography (OCT) findings of morning glory disc with associated findings. ... Full text Cite

Myelinated nerve fiber layer

Chapter · January 1, 2019 Myelinated nerve fiber layer is a developmental anomaly that results from an abnormal extension of myelination anterior to the lamina cribrosa of the sclera. In this chapter, we discuss the clinical features, OCT features, ancillary testing, and treatment ... Full text Cite

Optic nerve head drusen

Chapter · January 1, 2019 This chapter discusses optic disc drusen and the associated findings on optical coherence tomography (OCT). ... Full text Cite

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.

Journal Article J Hum Genet · December 2018 Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial dysfunction may work through a variety of mechanisms, from direct disruption of the electron transp ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Reply.

Journal Article J AAPOS · June 2018 Full text Link to item Cite

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Journal Article Genet Med · April 2018 PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted sin ... Full text Open Access Link to item Cite

Bruch's membrane opening on optical coherence tomography in pediatric papilledema and pseudopapilledema.

Journal Article J AAPOS · February 2018 PURPOSE: To determine whether the diameter of Bruch's membrane opening (BMO) can distinguish mild papilledema from pseudopapilledema using optical coherence tomography (OCT). METHODS: The medical records of pediatric patients with pseudopapilledma due to o ... Full text Link to item Cite

Endodermal Cyst of the Third Nerve in a Child.

Journal Article J Neuroophthalmol · September 2017 Endodermal cysts, also known as neurogenic, neuroenteric, foregut, bronchogenic, respiratory, epithelial, teratomatous, or gastrocytoma cysts, can be found in the central nervous system, predominantly in the subarachnoid space of the cervical and thoracic ... Full text Link to item Cite

Optic disc haemorrhages at baseline as a risk factor for poor outcome in the Idiopathic Intracranial Hypertension Treatment Trial.

Journal Article Br J Ophthalmol · September 2017 BACKGROUND: The risk of optic disc haemorrhages on visual outcome in idiopathic intracranial hypertension (IIH) is unknown. We report the type and frequency of optic disc haemorrhages and other funduscopic abnormalities at baseline in the study eye of the ... Full text Link to item Cite

Temporary Lumbar Drain as Treatment for Pediatric Fulminant Idiopathic Intracranial Hypertension.

Journal Article J Neuroophthalmol · June 2017 Fulminant idiopathic intracranial hypertension (FIIH) is a subtype of idiopathic intracranial hypertension (IIH) characterized by rapid, severe, progressive vision loss. Surgical intervention is often performed either as a cerebrospinal fluid (CSF) shunt p ... Full text Link to item Cite

Emerging Applications of Optical Coherence Tomography in Pediatric Optic Neuropathies.

Journal Article Semin Pediatr Neurol · May 2017 Limited cooperation and attention span often lead to poorly reliable assessments of visual acuity and visual fields in children, making diagnosis and monitoring of pediatric optic neuropathies challenging. As a noninvasive imaging modality, optical coheren ... Full text Link to item Cite

Nonglaucomatous Cupping: Fundus Photography and Spectral Domain Optical Coherence Tomography Imaging Features.

Journal Article J Neuroophthalmol · December 2016 Nonglaucomatous cupping is commonly encountered in neuro-ophthalmic practice. However, the progression of clinical and imaging findings over time has not been well described. We present serial fundus photographs and spectral domain optical coherence tomogr ... Full text Link to item Cite

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Journal Article Am J Hum Genet · October 6, 2016 The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 ... Full text Link to item Cite

Orbito-Masticatory Syndrome.

Journal Article J Neuroophthalmol · September 2016 We describe 2 unique cases of visual symptoms occurring during mastication in patients with lateral orbital wall defects. A 57-year-old man reported intermittent double vision and oscillopsia after a right fronto-temporal-orbito-zygomatic craniotomy with o ... Full text Link to item Cite

The macula in pediatric glaucoma: quantifying the inner and outer layers via optical coherence tomography automatic segmentation.

Journal Article J AAPOS · August 2016 BACKGROUND: Recent Spectralis (Heidelberg, Germany) spectral domain optical coherence tomography (SD-OCT) research software can automatically quantify the thickness of each individual retinal layer. The macular ganglion cell layer (GCL) and ganglion cell c ... Full text Link to item Cite

Optic neuritis in children

Chapter · July 27, 2016 Optic neuritis is rare in children. It may be an isolated event or a manifestation of a systemic recurrent or chronic demyelinating disease such as acute demyelinating optic neuropathy, neuromyelitis optica, or multiple sclerosis. In this chapter, we revie ... Full text Cite

Use of optical coherence tomography in the eyes of children

Chapter · July 27, 2016 OCT has found its niche within virtually all ophthalmic subspecialties, be it glaucoma, retina/vitreous, or anterior segment. OCT's role in the diagnosis, management, and treatment of pediatric eye disease continues to evolve. Monumental gains have been ma ... Full text Cite

Microcystic Macular Changes in Primary Open-angle Glaucoma.

Journal Article J Glaucoma · March 2016 PURPOSE: To describe microcystic macular changes in patients with moderate to advanced primary open-angle glaucoma. PATIENTS AND METHODS: Eleven eyes of 6 unrelated patients were retrospectively identified based on a disproportionately preserved macular th ... Full text Link to item Cite

The incidence of neovascular membranes and visual field defects from optic nerve head drusen in children.

Journal Article J AAPOS · February 2016 PURPOSE: To evaluate the incidence of visual field defects and choroidal neovascular membranes (CNVM) in a cohort of pediatric patients with optic nerve head drusen (ONHD). METHODS: The medical records of children with ONHD seen at a single center from Jan ... Full text Link to item Cite

Authors respond

Journal Article Neurology Clinical Practice · February 1, 2016 Full text Cite

Retinal Changes in Pediatric Glaucoma and Nonglaucomatous Optic Atrophy.

Journal Article Am J Ophthalmol · January 2016 PURPOSE: To describe the incidence and significance of retinal changes in pediatric eyes with glaucoma and nonglaucomatous optic atrophy by optical coherence tomography (OCT). DESIGN: Retrospective observational case series. METHODS: OCT scans performed on ... Full text Link to item Cite

Thinner Retinal Nerve Fiber Layer in Very Preterm Versus Term Infants and Relationship to Brain Anatomy and Neurodevelopment.

Journal Article Am J Ophthalmol · December 2015 PURPOSE: To assess retinal nerve fiber layer (RNFL) thickness at term-equivalent age in very preterm (<32 weeks gestational age) vs term-born infant cohorts, and compare very preterm infant RNFL thickness with brain anatomy and neurodevelopment. DESIGN: Co ... Full text Link to item Cite

The application of optical coherence tomography in neurologic diseases.

Journal Article Neurol Clin Pract · October 2015 Optical coherence tomography (OCT) has become an increasingly popular tool in various disciplines of medicine, particularly ophthalmology and neurology. It is an imaging technology that has revolutionized the practice of ophthalmology by providing anatomic ... Full text Link to item Cite

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune ... Full text Link to item Cite

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Journal Article Cold Spring Harb Mol Case Stud · October 2015 One of the most promising outcomes of whole-exome sequencing (WES) is the alteration of medical management following an accurate diagnosis in patients with previously unresolved disorders. Although case reports of targeted therapies resulting from WES have ... Full text Link to item Cite

Diagnostic Algorithm for Patients With Suspected Giant Cell Arteritis.

Journal Article J Neuroophthalmol · September 2015 BACKGROUND: To identify clinical and laboratory factors contributing to the diagnosis of giant cell arteritis (GCA) and develop a diagnostic algorithm for the evaluation of GCA. METHODS: Retrospective review of 213 consecutive cases of temporal artery biop ... Full text Link to item Cite

Subretinal Hyperreflective Material in the Comparison of Age-Related Macular Degeneration Treatments Trials.

Journal Article Ophthalmology · September 2015 PURPOSE: To evaluate the association of subretinal hyperreflective material (SHRM) with visual acuity (VA), geographic atrophy (GA), and scar in the Comparison of Age-Related Macular Degeneration Treatments Trials (CATT). DESIGN: Prospective cohort study w ... Full text Link to item Cite

Retinal atrophy in eyes with resolved papilledema detected by optical coherence tomography.

Journal Article J Neuroophthalmol · June 2015 BACKGROUND: To apply automated spectral domain optical coherence tomography (SD-OCT) segmentation to eyes with resolving papilledema. METHODS: Ninety-four patients with idiopathic intracranial hypertension seen at the Duke Eye Center neuro-ophthalmology cl ... Full text Link to item Cite

Assessment of retinal nerve fiber layer thickness in healthy, full-term neonates.

Journal Article Am J Ophthalmol · April 2015 PURPOSE: To measure average retinal nerve fiber layer (RNFL) thicknesses in healthy, full-term neonates. DESIGN: Descriptive research to develop normative data. METHODS: Healthy infants born between 37 and 42 weeks postmenstrual age were imaged with hand-h ... Full text Link to item Cite

Low cerebrospinal fluid protein in prepubertal children with idiopathic intracranial hypertension.

Journal Article J AAPOS · April 2015 PURPOSE: To evaluate a clinical observation that prepubertal children with idiopathic intracranial hypertension (IIH) have low cerebrospinal fluid (CSF) protein levels compared to healthy children and pubertal patients with IIH. METHODS: The medical record ... Full text Link to item Cite

Safety, tolerability, and efficacy of PBT2 in Huntington's disease: a phase 2, randomised, double-blind, placebo-controlled trial.

Journal Article Lancet Neurol · January 2015 BACKGROUND: PBT2 is a metal protein-attenuating compound that might reduce metal-induced aggregation of mutant huntingtin and has prolonged survival in a mouse model of Huntington's disease. We aimed to assess the safety, tolerability, and efficacy of PBT2 ... Full text Link to item Cite

Neuro-ophthalmology

Chapter · January 1, 2015 There are a number of clinical trials that have helped shaped the current practice guidelines in the practice of neuro-ophthalmology. The key neuro-ophthalmology trials are the Optic Neuritis Treatment Trial (ONTT), the Ischemic Optic Neuropathy Decompress ... Cite

Evaluation of optic nerve development in preterm and term infants using handheld spectral-domain optical coherence tomography.

Journal Article Ophthalmology · September 2014 PURPOSE: To evaluate effects of prematurity on early optic nerve (ON) development and the usefulness of ON parameters as indicators of central nervous system (CNS) development and pathology. DESIGN: Prospective, cross-sectional, longitudinal study. PARTICI ... Full text Link to item Cite

Interocular symmetry in macular choroidal thickness in children.

Journal Article J Ophthalmol · 2014 Objective. To report interocular differences in choroidal thickness in children using spectral domain optical coherence tomography (SD-OCT) and correlate findings with biometric data. Methods. This observational cross-sectional study included 91 (182 eyes) ... Full text Link to item Cite

Racial variation in optic nerve head parameters quantified in healthy newborns by handheld spectral domain optical coherence tomography.

Journal Article J AAPOS · October 2013 PURPOSE: To characterize optic nerve head (ONH) morphology and parameters, including vertical disk diameter, vertical cup diameter, and vertical cup/disk ratio in healthy, full-term newborns using a handheld spectral domain optical coherence tomography (SD ... Full text Link to item Cite

Optical coherence tomography in paediatric glaucoma: time domain versus spectral domain.

Journal Article Br J Ophthalmol · July 2013 BACKGROUND/AIMS: Spectral-domain (SD)- Optical Coherence Tomography (OCT) can track eye movements, has faster acquisition time and higher resolution than time-domain(TD)-OCT. The aim of the study was to assess the utility of SD-OCT in paediatric glaucoma a ... Full text Link to item Cite

Optic Nerve Sheath Fenestration—Indications and Techniques

Journal Article US Ophthalmic Review · 2013 The optic nerve is a white matter tract of the brain and its sheath is composed of pia mater, arachnoid mater, and dura mater. The subarachnoid space (SAS) of the optic nerve sheath, which contains cerebrospinal fluid, is contiguous with the SAS of ... Full text Cite

Isolated Horner syndrome and syringomyelia in a child.

Journal Article J AAPOS · December 2012 Horner syndrome can be caused by a variety of etiologies that interrupt the sympathetic innervation of the eye, including but not limited to central mass lesions. Recently, it has been debated whether neuroimaging has a place in the diagnostic algorithm of ... Full text Link to item Cite

Longitudinal reproducibility of optical coherence tomography measurements in children.

Journal Article J AAPOS · December 2012 PURPOSE: To evaluate the longitudinal reproducibility of optical coherence tomography (OCT) measurements in normal and glaucomatous eyes of children. METHODS: In this 2-setting prospective study, OCT-3 was used to obtain fast retinal nerve fiber layer (RNF ... Full text Link to item Cite

Pediatric optic neuritis.

Journal Article Int Ophthalmol Clin · 2012 Full text Link to item Cite

Optical coherence tomography (OCT) measurements in black and white children with large cup-to-disc ratios.

Journal Article Exp Eye Res · September 2011 Children with large optic nerve head cups often pose diagnostic difficulty due to concern over possible glaucoma. This study's purpose was to evaluate optical coherence tomography (OCT) measurement of the peripapillary retinal nerve fiber layer (RNFL) and ... Full text Link to item Cite

Differentiating glaucomatous from non-glaucomatous optic nerve cupping by optical coherence tomography.

Journal Article Open Neurol J · January 26, 2011 BACKGROUND: In clinical practice, the differentiation of glaucomatous from non-glaucomatous cupping can be difficult, even for experienced observers. The purpose of this study was to evaluate the role of optical coherence tomography (OCT) in differentiatin ... Full text Link to item Cite

Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas.

Journal Article J AAPOS · December 2010 PURPOSE: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disorder, with an approximate incidence of 1 in 3,500. Optic pathway gliomas (OPGs) develop in 15% of individuals with NF1, commonly in childhood. OPGs are difficult to detect via a ... Full text Link to item Cite

Correlation between optical coherence tomography and glaucomatous optic nerve head damage in children.

Journal Article Br J Ophthalmol · October 2009 Featured Publication AIM: To compare analysis of macular and nerve fibre layer thickness by optical coherence tomography (OCT) with optic nerve head (ONH) morphology based on stereophotography. DESIGN: Prospective observational case-control series. METHODS: Normal and glaucoma ... Full text Link to item Cite

Optical coherence tomography in the eyes of normal children.

Journal Article Arch Ophthalmol · January 2009 Featured Publication OBJECTIVE: To collect a normative database of macular thickness, retinal nerve fiber layer (RNFL) thicknesses, and optic nerve topography in the healthy eyes of children aged 3 to 17 years using optical coherence tomography (OCT) measurements. METHODS: Sca ... Full text Link to item Cite

A shot of adrenaline.

Journal Article Surv Ophthalmol · 2009 Acute macular neuroretinopathy is a rare disorder characterized by the sudden onset of unilateral or bilateral paracentral scotomas with relative sparing of the central vision that occurs mostly in young women. It is often characterized by wedge-like macul ... Full text Link to item Cite

Chronic granulomatous disease presenting as retinal mass.

Journal Article Cases J · October 21, 2008 1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrot ... Full text Link to item Cite

Reply

Other Journal of AAPOS · August 1, 2008 Full text Cite

Optical coherence tomography as a tool for monitoring pediatric pseudotumor cerebri.

Journal Article J AAPOS · December 2007 Featured Publication PURPOSE: To evaluate optical coherence tomography (OCT) measurement of peripapillary retinal nerve fiber layer (RNFL) and macular thickness in children with pseudotumor cerebri. METHODS: Prospective observational series of children with pseudotumor cerebri ... Full text Link to item Cite

Advances in the management of retinopathy of prematurity

Journal Article Expert Review of Ophthalmology · June 1, 2007 Retinopathy of prematurity is one of the leading causes of blindness in medically advanced countries and is becoming more prevalent in developing countries. It affects premature infants and may result in retinal detachment and significant visual impairment ... Full text Cite

HYPERLIPOPROTEINEMIA 272.4

Chapter · January 1, 2007 Full text Cite

Periocular corticosteroids in diabetic papillopathy.

Journal Article Eye (Lond) · January 2005 PURPOSE: To ascertain the therapeutic effect of periocular corticosteroids in diabetic papillopathy. METHODS: Prospectively, five consecutive adult-onset diabetic patients with symptomatic diabetic papillopathy underwent visual fields and fluorescein angio ... Full text Link to item Cite

Modifications in cataract surgery for the morbidly obese patient.

Journal Article J Cataract Refract Surg · November 2004 We describe a standing phacoemulsification technique (SPT) with the patient in reverse Trendelenburg position (RTP) as a means of performing surgery in morbidly obese patients. These patients have elevated vitreous pressure, leading to a high rate of poste ... Full text Link to item Cite

Inferior oblique overaction/contracture following retrobulbar anesthesia for cataract extraction with a positive Bielschowsky Head Tilt test to the contralateral shoulder. A report of one case.

Journal Article Binocul Vis Strabismus Q · 2004 BACKGROUND AND PURPOSE: This is a report of a patient with diplopia, hypertropia, extorsion and a positive Bielschowsky Head Tilt Test following retrobulbar anesthesia, due to an inferior oblique muscle overaction-contracture. CASE REPORT: Oculomotor and s ... Link to item Cite