Identification of a Novel Frameshift Variant in Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.

Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition.

Ocular myasthenia gravis saccades as a measure of extraocular muscle function.

Background: It is important to understand the pathophysiology of ocular myasthenia gravis (OMG) to improve treatment.

Aim: To use modern video-oculography to characterise saccadic eye movements in patients with OMG, including anti-AChR, anti-MuSK, anti-LRP4, and seronegative OMG.

Methods: In total, 21 patients with OMG and five age-matched healthy control subjects underwent video-oculography.

Crowding changes appearance systematically in peripheral, amblyopic, and developing vision.

Visual crowding is the disruptive effect of clutter on object recognition. Although most prominent in adult peripheral vision, crowding also disrupts foveal vision in typically developing children and those with strabismic amblyopia. Do these crowding effects share the same mechanism? Here we exploit observations that crowded errors in peripheral vision are not random: Target objects appear either averaged with the flankers (assimilation) or replaced by them (substitution).

Binocular versus standard occlusion or blurring treatment for unilateral amblyopia in children aged three to eight years.

Background: Current treatments for amblyopia, typically patching or pharmacological blurring, have limited success. Less than two-thirds of children achieve good acuity of 0.20 logMAR in the amblyopic eye, with limited improvement of stereopsis, and poor adherence to treatment.

Eye movements elevate crowding in idiopathic infantile nystagmus syndrome.

Idiopathic infantile nystagmus syndrome is a disorder characterised by involuntary eye movements, which leads to decreased acuity and visual function. One such function is visual crowding - a process whereby objects that are easily recognised in isolation become impaired by nearby flankers. Crowding typically occurs in the peripheral visual field, although elevations in foveal vision have been reported in congenital nystagmus, similar to those found with amblyopia.

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, .

Novel Biallelic Variants and Phenotypic Features in Patients with -Related Foveal Hypoplasia.

Biallelic pathogenic variants in solute carrier family 38 member 8, , cause a pan-ocular autosomal recessive condition known as foveal hypoplasia 2, FVH2, characterised by foveal hypoplasia, nystagmus and optic nerve chiasmal misrouting. Patients are often clinically diagnosed with ocular albinism, but foveal hypoplasia can occur in several other ocular disorders. Here we describe nine patients from seven families who had molecularly confirmed biallelic recessive variants in identified through whole genome sequencing or targeted gene panel testing.

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort with malformations of the globe, anterior segment anomalies, childhood glaucoma, or a combination thereof.

Design: Evaluation of diagnostic test.

Participants: Two hundred seventy-seven children, 0 to 16 years of age, diagnosed with nonsyndromic or syndromic developmental eye defects without a genetic diagnosis.

Use of a Binocular Optical Coherence Tomography System to Evaluate Strabismus in Primary Position.

Importance: Current clinical methods for assessing strabismus can be prone to error. Binocular optical coherence tomography (OCT) has the potential to assess and quantify strabismus objectively and in an automated manner.

Objective: To evaluate the use of a binocular OCT prototype to assess the presence and size of strabismus.

Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study.

Purpose: To determine the child's and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in children with microphthalmia/anophthalmia/coloboma (MAC).

Methods: Between June 25, 2014, and June 3, 2015, we carried out a cross-sectional observational study at Moorfields Eye Hospital, London, UK, enrolling 45 children 2-16 years of age with MAC attending our clinics, and their parents. To assess FVA, VR-QoL, and HR-QoL we asked participants to complete three validated tools, the Cardiff Visual Ability Questionnaire for Children (CVAQC), the Impact of Vision Impairment for Children (IVI-C) instrument, and the PedsQL V 4.

Tests for detecting strabismus in children aged 1 to 6 years in the community.

Background: Strabismus (misalignment of the eyes) is a risk factor for impaired visual development both of visual acuity and of stereopsis. Detection of strabismus in the community by non-expert examiners may be performed using a number of different index tests that include direct measures of misalignment (corneal or fundus reflex tests), or indirect measures such as stereopsis and visual acuity. The reference test to detect strabismus by trained professionals is the cover‒uncover test.

Binocular Therapy for Childhood Amblyopia Improves Vision Without Breaking Interocular Suppression.

Purpose: Amblyopia is a common developmental visual impairment characterized by a substantial difference in acuity between the two eyes. Current monocular treatments, which promote use of the affected eye by occluding or blurring the fellow eye, improve acuity, but are hindered by poor compliance. Recently developed binocular treatments can produce rapid gains in visual function, thought to be as a result of reduced interocular suppression.

Quality of Life and Functional Vision in Children with Glaucoma.

Purpose: To evaluate the effect of glaucoma on functional vision and on vision-related (VR) and health-related (HR) quality of life (QoL) in children up to 16 years of age.

Design: Cross-sectional observational study.

Participants: One hundred nineteen children 2 to 16 years of age (mean age, 9.

Novel molecular insights into the function and the antioxidative stress response of a Peroxiredoxin Q protein from cyanobacteria.

The Peroxiredoxin Q (PrxQ) proteins are thiol-based peroxidases that are important for maintaining redox homeostasis in several organisms. Activity of PrxQs is mediated by two cysteines, peroxidatic (C) and resolving (C), in association with a reducing partner. A PrxQ, Alr3183, from the cyanobacterium, Anabaena PCC 7120, was characterized in this study.

Rate of Strabismus Detection on Digital Photographs Increases by Using Off-center Near Target.

Purpose: To increase the detection rate of strabismus on digital photographs, with the ultimate aim of developing a new automated strabismus detection algorithm.

Methods: In this prospective case series, the authors acquired digital face photographs of 409 children with manifest or latent strabismus, using a 14-million-pixel camera with CCD image sensor. Of the last 52 enrolled, 34 image sets were selected for this study: 29 with manifest and 5 with latent strabismus.

Neuroplasticity and amblyopia: vision at the balance point.

Purpose Of Review: New insights into triggers and brakes of plasticity in the visual system are being translated into new treatment approaches which may improve outcomes not only in children, but also in adults.

Recent Findings: Visual experience-driven plasticity is greatest in early childhood, triggered by maturation of inhibitory interneurons which facilitate strengthening of synchronous synaptic connections, and inactivation of others. Normal binocular development leads to progressive refinement of monocular visual acuity, stereoacuity and fusion of images from both eyes.

Childhood amblyopia: current management and new trends.

Introduction Or Background: With a prevalence of 2-5%, amblyopia is the most common vision deficit in children in the UK and the second most common cause of functional low vision in children in low-income countries.

Sources Of Data: Pubmed, Cochrane library and clinical trial registries (clinicaltrials.gov, ISRCTN, UKCRN portfolio database).

Saccadic vector optokinetic perimetry in children with neurodisability or isolated visual pathway lesions: observational cohort study.

Background/aims: Children and adults with neurological impairments are often not able to access conventional perimetry; however, information about the visual field is valuable. A new technology, saccadic vector optokinetic perimetry (SVOP), may have improved accessibility, but its accuracy has not been evaluated. We aimed to explore accessibility, testability and accuracy of SVOP in children with neurodisability or isolated visual pathway deficits.

Binocular versus standard occlusion or blurring treatment for unilateral amblyopia in children aged three to eight years.

Background: Current treatments for amblyopia in children, occlusion and pharmacological blurring, have had limited success, with less than two-thirds of children achieving good visual acuity of at least 0.20 logMAR in the amblyopic eye, limited improvement of stereopsis, and poor compliance. A new treatment approach, based on the dichoptic presentation of movies or computer games (images presented separately to each eye), may yield better results, as it aims to balance the input of visual information from each eye to the brain.

Prescribed computer games in addition to occlusion versus standard occlusion treatment for childhood amblyopia: a pilot randomised controlled trial.

Background: Amblyopia ("lazy eye") is the commonest vision deficit in children. If not fully corrected by glasses, amblyopia is treated by patching or blurring the better-seeing eye. Compliance with patching is often poor.

Delivering clinical trials and observational studies in child eye health: a nationwide survey in the United Kingdom.

Purpose: Evidence-based medicine requires primary results from randomized controlled trials and high-quality observational studies; however, in pediatric medicine it can be difficult to enroll sufficient numbers of children to reach sample sizes required for statistical significance. The experience of clinicians and researchers with the practicalities of recruitment has not been explored, but could potentially inform best practice and lead to the development of successful research networks. Perceived barriers and facilitators to recruitment in child eye health in the United Kingdom, where adoption of trials and studies onto a central database has created a register of high quality projects, were investigated.

Visual acuity, crowding, and stereo-vision are linked in children with and without amblyopia.

Purpose: During development, the presence of strabismus and anisometropia frequently leads to amblyopia, a visual disorder characterized by interocular acuity differences. Although additional deficits in contrast sensitivity, crowding (the impaired recognition of closely spaced objects), and stereoacuity are common, the relationship between these abilities is unclear.

Methods: We measured the covariation between these four abilities in children 4 to 9 years of age (n = 72) with strabismus, anisometropia, or mixed strabismus/anisometropia, and unaffected controls.