Optic Atrophy and Inner Retinal Thinning in -related Congenital Stationary Night Blindness.

Hemizygous pathogenic variants in lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in -retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed -retinopathy.

Long-term follow-up of torsional augmentation surgery in a case of congenital ocular tilt reaction with head tilt.

Torsional augmentation surgery was used to correct the anomalous head position (AHP) in a child with congenital ocular tilt reaction (OTR). The underlying neuropathology was hypoplasia involving the right hemicerebellum and contralateral brainstem. Postoperatively there was an acceptable and variable resolution of head tilt sustained over a 25-year follow-up period.

VIGABATRIN TOXICITY IN INFANCY IS ASSOCIATED WITH RETINAL DEFECT IN ADOLESCENCE: A Prospective Observational Study.

Purpose: The purpose was to determine whether vigabatrin (VGB) (Sabril)-attributed retinal toxicity defined by electroretinogram in early childhood is associated with visual system defect in adolescents after discontinuation of VGB.

Methods: This prospective cross-sectional study included 24 children previously treated with VGB and monitored in early childhood by electroretinogram for VGB-attributed retinal defects. Ten had been diagnosed with VGB-attributed retinal defect (Group I) and 14 had no VGB-attributed retinal defect (Group II).

Measuring recovery of visual function in children with papilledema using sweep visual evoked potentials.

Purpose: To assess visual function in children with papilledema using sweep visual evoked potentials (VEP) to determine whether vision function improved following treatment.

Methods: Contrast sensitivity and grating acuity were prospectively measured by using sweep visual evoked potential testing in children with mild or moderate acute papilledema. A subset of children were tested longitudinally before and after treatment.

Pediatric orbital cellulitis in the Haemophilus influenzae vaccine era.

Purpose: To evaluate the microbiology of pediatric orbital cellulitis in blood cultures and abscess drainage cultures following the introduction of the Haemophilus influenzae serotype b (Hib) vaccine.

Methods: The medical records of all pediatrics patients (aged <18 years) at a tertiary pediatric hospital during the period January 2000 to July 2011 with a computed tomography orbital imaging querying "orbital cellulitis," "periorbital cellulitis," "preseptal cellulitis," or "post-septal cellulitis" were retrospectively reviewed. The records, microbiology, and radiology of these patients were reviewed to assess the rates and complications of H.

Vigabatrin retinal toxicity in children with infantile spasms: An observational cohort study.

Objectives: To determine time to vigabatrin (VGB, Sabril; Lundbeck, Deerfield, IL) induced retinal damage in children with infantile spasms (IS) and to identify risk factors for VGB-induced retinal damage (VGB-RD).

Methods: Observational cohort study including 146 participants (68 female, 81 male) with IS, an age-specific epilepsy syndrome of early infancy, treated with VGB. Participants ranged from 3 to 34.

Functional-structural correlations in the afferent visual pathway in pediatric demyelination.

Objective: We evaluated the relationship of optical coherence tomography (OCT)-measured ganglion cell layer (GCL) and retinal nerve fiber layer (RNFL) thickness to other functional measures of afferent visual pathway competence including high-contrast visual acuity (HCVA) and low-contrast visual acuity (LCVA), visual field sensitivity, and color vision perception in a pediatric population with demyelinating disorders.

Methods: This was a cross-sectional evaluation of 37 children, aged 8-18 years, with pediatric demyelinating disorders (n = 74 eyes), and 18 healthy controls (n = 36 eyes), who were recruited from the University of Toronto, Hospital for Sick Children and the University of Calgary, Alberta Children's Hospital, Canada. A standardized visual battery, including spectral-domain OCT, visual fields, LCVA, and HCVA, was performed in all subjects.

The effect of adding orbital computed tomography findings to the Chandler criteria for classifying pediatric orbital cellulitis in predicting which patients will require surgical intervention.

Purpose: To assess the effect of adding orbital computerized tomography (CT) findings to the Chandler criteria for classifying pediatric orbital cellulitis in predicting which patients will require surgical intervention.

Methods: The medical records of patients with orbital CT at a tertiary pediatric hospital from January 2000 to March 2011 were reviewed retrospectively. CT images of cases with radiology report of postseptal orbital involvement were further reviewed by a neuroradiologist.

The optic disc is minimal in children with idiopathic intracranial hypertension.

This study sought to characterize the optic disc morphology, particularly the cup-to-disc ratio of the optic nerve head in children with idiopathic intracranial hypertension. The medical charts and digital optic disc photos of children with confirmed diagnosis of idiopathic intracranial hypertension were reviewed retrospectively. The optic disc area, cup area, and cup-to-disc ratio were measured digitally using VISUPAC software, and the mean values of those parameters were compared to the published norms.

Transient visual loss and isolated disk edema in juvenile nasopharyngeal angiofibroma.

Juvenile nasopharyngeal angiofibroma is a well-described but rare benign tumor that mainly affects adolescent boys. Although it is capable of extravagant local extension and tissue destruction, the tumor is amenable to effective therapy. Ocular or visual complications have been little noted in the literature.

Ocular manifestations of the Johanson-Blizzard syndrome.

Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive. The literature was reviewed to define the reported spectrum of ocular manifestations, which are not well documented. We found that nasolacrimal system malformations are a common feature of Johanson-Blizzard, whereas intraocular malformations are rare.

Natural history and outcome of optic pathway gliomas in children.

Background: The optimal management of optic pathway gliomas (OPGs) is complicated by their variable natural history, the association with neurofibromatosis type 1 (NF1) and difficulties in defining progression and response to treatment.

Methods: This study is a retrospective review of all children presenting to a single institution with an OPG between 1990 and 2004.

Results: Of the 133 children included, 78 (59%) had NF1; 87 (71 NF1) were observed initially, of whom 23 (11 NF1) subsequently required treatment.

Paradoxical robust visual evoked potentials in young patients with cortical blindness.

The objective of this study was to review retrospectively cases of clinically blind children in whom robust pattern visual evoked potentials (VEPs) were recorded. VEP records from a 10-year period (1990-2000) were reviewed. We searched for charts of children who were clinically cortically blind, but in whom assessment of visual acuity, using visual evoked potentials (VEPs), was normal or close to normal.

Reduced grating acuity associated with retinal toxicity in children with infantile spasms on vigabatrin therapy.

Purpose: To determine whether visual functions are decreased in children with infantile spasms and vigabatrin-attributed retinal toxicity.

Methods: Contrast sensitivity and grating acuity were measured by using sweep visual evoked potential (VEP) testing in 42 children with infantile spasms (mean age, 29.23 +/- 18.

Head position-dependent changes in ocular torsion and vertical misalignment in skew deviation.

Objectives: To investigate whether ocular torsion and vertical misalignment differ in the upright vs supine position in skew deviation and to compare these findings with those in trochlear nerve palsy.

Methods: Ten patients with skew deviation, 14 patients with unilateral peripheral trochlear nerve palsy, and 12 healthy subjects were prospectively recruited. With subjects first in the upright position and then in the supine position, ocular torsion was measured by double Maddox rods and vertical misalignment was measured by the prism and alternate cover test.

Evaluation of vertical rectus muscles using ultrasound biomicroscopy.

Purpose: To evaluate the accuracy of ultrasound biomicroscopy (UBM) in measuring the distance (in mm) from limbus to the insertion of vertical rectus muscles (superior rectus and inferior rectus compared with the "gold standard" surgical caliper at the time of surgery.

Methods: Prospective, masked, observational study of 31 vertical rectus muscle insertions in which we compared the measurements from the limbus as measured by 50 MHz UBM, either preoperatively or at the time of anesthesia, with that measured by surgical caliper intraoperatively. Measurements (UBM and surgical) were evaluated by two different observers and analyzed using the Bland-Altman method.

Dissociated vertical deviation in patients with intermittent exotropia.

Purpose: To determine whether the age of strabismus onset and the degree of stereopsis are related to the development of dissociated vertical deviation (DVD) in patients with intermittent exotropia and to describe the characteristics of DVD in patients with intermittent exotropia and DVD.

Methods: Retrospective record review of patients with (1) intermittent exotropia with DVD; (2) infantile esotropia with DVD; and (3) intermittent exotropia without DVD. Age of strabismus onset, stereopsis, strabismus measurements, and the response of DVD to the Bielschowsky head-tilt test were compared among the three groups.

Obstructive sleep apnea syndrome with bilateral papilledema and vision loss in a 3-year-old child.

We describe bilateral papilledema and vision loss in a 3-year-old child with obstructive sleep apnea. Although lumbar puncture initially disclosed a normal opening pressure, cerebrospinal fluid (CSF) pressure monitoring during sleep confirmed intermittent episodes of elevated intracranial pressure corresponding to increased airway resistance. The association of obstructive sleep apnea and raised intracranial pressure is recognized in children with craniosynostosis but has not been reported in its absence.

Assessment of chemotherapeutic response in children with proptosis due to optic nerve glioma.

Introduction: Some children with optic pathway gliomas present with proptosis related to intraorbital tumor extension. The radiological assessment of chemotherapeutic response in these patients can be complicated by irregular tumor shape and lack of relation between tumor volume and cosmetic effect.

Method: We propose that proptosis measurements and derivation of a proptosis index can be a useful adjunct to the measurement of tumor volume in the radiological assessment of chemotherapeutic response.

Contrast sensitivity is reduced in children with infantile spasms.

Purpose: To investigate whether visual deficits in children with infantile spasm (IS) are the result of seizure activity or of treatment with the anticonvulsant drug vigabatrin (VGB).

Methods: Vision function was determined in three experiments by determining peak contrast sensitivity (CS) and grating acuity (GA) with the sweep visual evoked potential. Cross-sectional study A: 34 children, including 11 patients with childhood epilepsy with exposure to VGB for at least 6 months, 10 with childhood epilepsy exposed to antiepileptic drugs other than VGB, and 13 normally developing children.

Screening and diagnosis of optic pathway gliomas in children with neurofibromatosis type 1 by using sweep visual evoked potentials.

Purpose: Neurofibromatosis type 1 (NF-1) is an autosomal dominant phakomatosis with a prevalence of 1 in 2000 to 1 in 5000. Up to 24% of these patients have optic pathway gliomas (OPGs). In the present study, the use of sweep visual evoked potentials (SVEPs) was investigated as a screening tool for identifying patients with NF-1 who had OPGs by comparing them to those patients with no OPGs and to normally developing children.

Assessment of change of optic nerve head cupping in pediatric glaucoma using the RetCam 120.

Purpose: To ascertain the interobserver agreement among various specialists when analyzing images of the optic nerve head taken with the RetCam 120 (Clarity Medical Systems, Inc., Pleasanton, CA) for assessing the progression of optic disk cupping in pediatric glaucoma.

Methods: Five observers compared pairs of RetCam 120 two-dimensional photographs from 64 eyes to identify whether or not changes in the optic disk had occurred.