Retinal defect in children with infantile spasms of varying etiologies: An observational study.

Objective: To determine the prevalence of retinal defect in children with infantile spasms (IS) unrelated to treatment with vigabatrin and clarify if specific primary etiologies for IS are associated with retinal defect more than others.

Methods: This was an observational cohort study including 312 patients (176 male, 136 female) with IS who were vigabatrin-naive. Participants ranged from 1.

Hand-held, dilation-free, electroretinography in children under 3 years of age treated with vigabatrin.

Purpose: The anti-epileptic drug vigabatrin is associated with reduction in light-adapted 30-Hz flicker electroretinogram (ERG) amplitude. Ophthalmological assessments, including ERGs, monitor retinal health during vigabatrin treatment. RETeval™ is a hand-held ERG device adapted for dilation-free ERG assessment.

Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data.

Purpose: The full-field electroretinogram (ff-ERG) is a widely used clinical tool to evaluate generalized retinal function by recording electrical potentials generated by the cells in the retina in response to flash stimuli and requires mydriasis. The purpose of this study was to determine the intra-visit reliability and diagnostic capability of a handheld, mydriasis-free ERG, RETeval (LKC Technologies, Gaithersburg, MD, USA), in comparison with the standard clinical ff-ERG by measuring responses recommended by the International Society for Clinical Electrophysiology of Vision (ISCEV).

Methods: This prospective, cross-sectional study included 35 patients recruited at the Hospital for Sick Children (median age = 17, range 11 months-69 years) who had undergone a clinical ff-ERG according to ISCEV standards.

Demonstration of anatomical development of the human macula within the first 5 years of life using handheld OCT.

Purpose: To demonstrate the anatomical development of the human macula using handheld spectral domain optical coherence tomography (SD-OCT) during the first 5 years of life.

Methods: This study is a cross-sectional, observational case series. Thirty-five normal eyes of 35 full-term/late preterm infants and children under 5 years of age were included.

Macular morphology following unilateral bevacizumab injection for retinopathy of prematurity: an OCT study.

This retrospective case series assessed the influence of unilateral intravitreal bevacizumab (IVB) for unilateral type 1 retinopathy of prematurity (ROP) on macular thickness and foveal development. Seven infants with unilateral type 1 ROP were treated with intravitreal bevacizumab 0.625 mg/0.

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).

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Purpose: To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR).

Methods: A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platform.

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.

Cone-Photoreceptor Density in Adolescents With Type 1 Diabetes.

Purpose: Changes to retinal structure and function occur in individuals with diabetes before the onset of diabetic retinopathy. It is still unclear if these changes initially affect vascular or neural retina, or if particular retinal areas are more susceptible than others. This paper examines the distribution of cone photoreceptor density in the retina of adolescents with type 1 diabetes.

Are hospital admissions reduced by Acute Medicine consultant telephone triage of medical referrals?

The NHS in England is facing well-documented pressures related to increasing acute hospital admissions at a time when the acute medical bed-base is shrinking, doctors working patterns are increasingly fragmented and many acute hospital trusts are operating a financial deficit. Novel strategies are required to reduce pressure on the acute medical take. We conducted a prospective cohort study to assess the impact of acute medicine consultant triage of referrals to the acute medical take on the number of acute hospital admissions as compared to a historical control cohort.

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.

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Purpose: To identify the genetic cause of autosomal-dominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE) in two families.

Methods And Results: Two families with autosomal-dominant PD were identified. Eight members of family 1 (five affected) were subjected to whole-genome SNP genotyping; multipoint genome-wide linkage analysis identified 7 regions of potential linkage, and genotyping four additional individuals from family 1 resulted in a maximum logarithm of odds score of 2.

Changes in the ERG d-wave with vigabatrin treatment in a pediatric cohort.

Purpose: Vigabatrin (VGB), a treatment for the childhood epilepsy, infantile spasms (IS), is implicated in visual field constriction. Electroretinograms (ERGs) are used as a substitute for visual field testing in infants. We use the VGB-associated ERG reduction (VAER), defined as reduction in age-corrected light adapted 30 Hz flicker amplitude from a pre-treatment measurement in the absence of other retinal defects, as an indicator of retinal toxicity resulting from VGB use.

Localizing functional damage in the neural retina of adolescents and young adults with type 1 diabetes.

Purpose: It is unknown which regions of the retina are most susceptible to damage by diabetes mellitus. We hypothesized that the standard and slow-flash (sf-) multifocal electroretinogram (mfERG) will localize retinal regions of greatest vulnerability.

Methods: A total of 55 adolescents and young adults with type 1 diabetes and without diabetic retinopathy (DR) or with mild nonproliferative DR and 54 typically-developing, age-similar control participants underwent mfERG and sf-mfERG testing.

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

Purpose: To report phenotypic characteristics including macular cone photoreceptor morphology in KCNV2-related "cone dystrophy with supernormal rod electroretinogram" (CDSR).

Methods: Seven patients, aged 9 to 18 years at last visit, with characteristic full-field electroretinographic (ERG) features of CDSR were screened for mutations in the KCNV2 gene. All patients underwent detailed ophthalmological evaluation, which included distance and color vision testing, contrast sensitivity measurement, fundus photography, fundus autofluorescence (FAF) imaging, and spectral domain-optical coherence tomography (SD-OCT).

Analysis of multifocal electroretinograms from a population with type 1 diabetes using partial least squares reveals spatial and temporal distribution of changes to retinal function.

Spatial-temporal partial least squares (ST-PLS) is a multivariate statistical analysis that has improved the analysis of modern imaging techniques. Multifocal electroretinograms (mfERGs) contain a large amount of data, and averaging and grouping have been used to reduce the amount of data to levels that can be handled using traditional statistical methods. In contrast, using all acquired data points, ST-PLS enables statistically rigorous testing of changes in waveform shape and in the distributed signal related to retinal function.

The effects of maternal supplementation of polyunsaturated Fatty acids on visual, neurobehavioural, and developmental outcomes of the child: a systematic review of the randomized trials.

Polyunsaturated fatty acid (PUFA) use in pregnancy has been promoted as beneficial for visual and neurobehavioural development in the fetus. However, no systematic review of the randomized trials has been conducted. The objective of this review was to evaluate potential advantages of this regiment by reviewing all randomized trials in pregnancy.

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Purpose: To describe the clinical, spectral-domain optical coherence tomography and electrophysiological features of C1QTNF5-associated late-onset retinal degeneration in a molecularly confirmed pedigree.

Methods: Five members of a family participated, and affected individuals (n = 4) underwent detailed ophthalmologic evaluation including fundus autofluorescence and spectral-domain optical coherence tomography imaging and electroretinography. Electrooculography was performed in three individuals.

Blue flash ERG PhNR changes associated with poor long-term glycemic control in adolescents with type 1 diabetes.

Purpose: To investigate the relationship between long-term glycemic control and photopic negative response (PhNR) changes in the blue flash ERG in adolescents with type 1 diabetes (T1D) without diabetic retinopathy (DR).

Methods: After light adaptation, ERG responses to 1.60 cd·s/m(2) blue (420 nm) flashes (blue flash ERG) and 3.

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Purpose: To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease.

Methods: Two affected subjects (the proband and his maternal grandfather) and an unaffected obligate carrier (the proband's mother) underwent detailed ophthalmological evaluation, fundus autofluorescence imaging, and spectral-domain optical coherence tomography. Goldmann visual field assessment and full-field electroretinogram (ERG) were performed in the two affected subjects, and multichannel flash visual evoked potential was performed on the proband.

Visual development of human milk-fed preterm infants provided with extra energy and nutrients after hospital discharge.

Background: Human milk (HM) is the optimal way to nourish preterm low birth weight (LBW) infants after hospital discharge. However, there are few data on which to assess whether HM alone is sufficient to address hospital-acquired nutrition deficits, and no adequately powered studies have examined this question using neurodevelopment as an outcome. The purpose of this work was to determine whether adding extra energy and nutrients to the feedings of predominantly HM-fed LBW infants early after discharge improves their visual development.

Primer on visual field testing, electroretinography, and other visual assessments for patients treated with vigabatrin.

Vigabatrin, an irreversible inhibitor of γ-aminobutyric acid transaminase, is an antiepileptic drug indicated in the United States as adjunctive therapy for adult patients with refractory complex partial seizures who have responded inadequately to several alternative treatments and for monotherapy treatment of infantile spasms in patients 1 month to 2 years of age. Approval of vigabatrin in the United States was contingent on the implementation of a Risk Evaluation and Mitigation Strategy (REMS) to manage the threat of a progressive, permanent bilateral concentric peripheral visual field defects (pVFDs) that may occur in patients treated with vigabatrin. The REMS is designed to promote compliance with evidence-based recommendations for baseline (within 4 weeks of the start of treatment) ophthalmologic evaluations and ongoing vision monitoring in all patients treated with vigabatrin.

Isolating visual evoked responses--comparing signal identification algorithms.

Purpose: To compare signal identification algorithms for recording visual evoked potentials (VEP).

Methods: VEPs were recorded both in the presence and absence of a stimulus. Four algorithms were designed to estimate the probability that a recording contains a stimulus evoked signal, and to assign weights for use in a weighted average to isolate a final VEP.