Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.

Background: Ataxia-telangiectasia (A-T) is a rare multisystem disease characterised by neurodegenerative cerebellar ataxia, lung disease, immune deficiency, high cancer risk, and mitochondrial dysfunction. A-T cells demonstrate defective endoplasmic reticulum-mitochondrial connectivity disrupting calcium homoeostasis and mitochondrial fusion, which are corrected in vitro by the triheptanoin metabolite, heptanoate.

Methods: We performed a Phase 2a/b trial of triheptanoin with a three-arm placebo-controlled dose-escalation design.

Functional consequences of amblyopia and its impact on health-related quality of life.

Amblyopia (lazy eye) is the most common cause of monocular vision loss, affecting up to 4% of children and often persisting into adulthood. While treating the visual acuity deficit is often the focus of treatment, there is a pressing need for researchers, educators, and clinicians to understand the effects of amblyopia that extend beyond visual acuity. This review article highlights recent advances in understanding the impact of amblyopia on everyday life functioning.

Fine Motor Skills, Reading Speed, and Self-Reported Quality of Life in Adults With Amblyopia and/or Strabismus.

Purpose: The purpose of this study was to assess fine motor skills and reading proficiency in adults with amblyopia and/or strabismus, and to determine how these relate to clinical measures of vision and self-reported vision-related quality of life.

Methods: Fine motor skills (Manual dexterity - Bruininks-Oseretsky Test of Motor Proficiency [BOT-2]) and reading performance (International Reading Speed Texts [IReST]) were assessed in 23 adults with non-strabismic amblyopia, 20 with non-amblyopic strabismus, 52 with both amblyopia and strabismus, and 19 with normal visual development. Visual acuity and binocular function score (BFS), obtained from stereoacuity and presence/absence of suppression, were also determined.

The Frequency of Occurrence of Strabismus in Infants Post Lensectomy.

Purpose To identify and characterize incident cases of strabismus and interocular visual acuity among infants post lensectomy for congenital cataract. Method This was a single-centre retrospective chart review of all children aged less than 12 months who underwent lensectomy from 1st January 2014 to 1st January 2021. Cases were identified from theatre coding and electronic medical records.

Building and maintaining interprofessional collaborative practice in eyecare: Learnings from the Queensland Paediatric Optometry Alignment Program.

Purpose: The Queensland Children's Hospital Paediatric Optometry Alignment Program commenced with a pilot phase to assess its feasibility, effectiveness and acceptability. This study identified the barriers that hinder effective interprofessional collaboration and the facilitators that contribute to its success, and assessed changes in optometrists' satisfaction since the pilot phase of the collaborative care programme.

Methods: Qualitative deductive and inductive content analysis was applied to open-ended free-text survey responses collected in 2018 from the optometrists involved in the Program's pilot phase.

Clinical indicators for diabetic eyecare delivered by optometrists in Australia: a Delphi study.

Clinical Relevance: Valid and updated clinical indicators can serve as important tools in assessing and improving eyecare delivery.

Background: Indicators for diabetic eyecare in Australia were previously developed from guidelines published before 2013 and then used to assess the appropriateness of care delivery through a nationwide patient record card audit (the iCareTrack study). To reflect emerging evidence and contemporary practice, this study aimed to update clinical indicators for optometric care for people with type 2 diabetes in Australia.

Fine visuomotor skills in amblyopia: a systematic review and meta-analysis.

Background: Amblyopia is characterised by reduced visual acuity, poor binocular sensory fusion, and impaired or absent stereoacuity. Understanding the extent to which amblyopia affects everyday task performance is important to quantifying the disease burden of amblyopia and can assist clinicians to understand patients' likely functional capability.

Methods: A systematic literature search identified published studies comparing fine visuomotor performance in either children or adults with amblyopia and those with normal binocular vision.

Amblyopia-A novel virtual round table to explore the caregiver perspective.

Purpose: A survey aimed to capture the caregiver's perspective on the impact of amblyopia and its treatment on the child and family, as well as caregivers' views on the design and feasibility of clinical trials investigating dichoptic binocular therapies for amblyopia.

Methods: Parents of amblyopic children, patient advocates and healthcare professionals took part in a moderated, structured discussion on a novel virtual advisory-board platform.

Results: Seven parents of children with amblyopia, two patient organisation representatives, one ophthalmologist and one optometrist participated in the survey.

Qualitative Exploration of the Visual Function Impairments and Health-Related Quality of Life Impacts of Amblyopia in Adult and Pediatric Populations.

Introduction: Amblyopia is a reduction in vision in one or both eyes due to impaired development of the visual pathway. This study explored the experience of amblyopia and treatment from the patient, caregiver, and clinician perspectives.

Methods: A targeted literature review, including a review of social media listening (SML) studies, was conducted.

Integration of hospital and community care for paediatric ophthalmology: A mixed-methods study.

Background: To explore collaborative care models for paediatric eye care that integrate hospital and community-based care to address access blocks.

Methods: Sequential referrals to a tertiary paediatric ophthalmology clinic between April and October 2019 and subsequent encounters up until July 2020 at a major metropolitan public children's hospital in Sydney, Australia, were reviewed to identify those cases suitable for community care. Semi-structured phone interviews were conducted with eye health service providers, including ophthalmologists, orthoptists and optometrists, as well as service users to explore their perspectives on potential changes to service delivery.

The Amblyopia Quality of Life (AmbQoL): Development and Content Validation of a Novel Health-Related Quality of Life Instrument for Use in Adult and Pediatric Amblyopia Populations.

Introduction: Amblyopia is a neurodevelopmental vision disorder, characterized by poor vision in one or both eyes. Given the lack of existing clinical outcome assessments (COA) considered fit-for-purpose for amblyopia clinical trials, this study developed new COAs to assess amblyopia symptoms and health-related quality of life (HRQoL) impacts in adult and pediatric amblyopia populations that conform with best practice standards and regulatory guidelines.

Methods: Findings from a targeted qualitative literature review informed the development of three versions of the new Amblyopia Quality of Life Questionnaire (AmbQoL): a patient-reported outcome measure (PRO) for individuals aged 13 years and older, a PRO for children aged 9-12 years, and an observer-reported outcome measure (ObsRO) for caregivers of children aged 4-8 years.

The paediatric optometry alignment program - a model of interprofessional collaborative eyecare.

Clinical Relevance: Collaboration  between hospital-based ophthalmology and community-based optometry could pave the way to improve access to paediatric eyecare services.

Background: The Paediatric Optometry Alignment Program (POAP) began in 2016 as a proof-of-concept pilot project that aimed to improve access to specialist paediatric ophthalmology services. If found to be effective at improving patient access, and the quality of care acceptable to patients and professionals then the strategic intent was to upscale the programme to  serve as a model for paediatric eye care in the community.

Optimised minus lens overcorrection for paediatric intermittent exotropia: A randomised clinical trial.

Background: Aim of this study was to evaluate the efficacy of a novel algorithm to customise overminus lens therapy in intermittent exotropia (IXT) based on clinical factors associated with control of the deviation.

Methods: Clinical parameters in IXT vary among individuals. Based on individual's physiological factors, an algorithm was developed.

Impact of Amblyopia on Visual Attention and Visual Search in Children.

Purpose: The purpose of this study was to compare binocular visual attention, visual processing speeds, and visuo-cognitive search ability in children with and without amblyopia and investigate the association of visual acuity and binocular function with these measures.

Methods: Participants included 20 children with amblyopia (mean age = 9.0 ± 1.

Practical use and prescription of ocular medications in children and infants.

Optometrists in Australia employ ophthalmic medicines in their paediatric practice to assist clinical diagnosis and to treat ocular conditions. Prior to employing ocular medicines or initiating treatment, it is important to consider the risks versus benefits of ophthalmic medicines and determine the minimum dose required to safely achieve a diagnostic or therapeutic benefit. Instilling drops in infants and young children may require techniques that do not depend on full cooperation, particularly to maintain appropriate dosing and limit the rate of elimination from the eye.

Worth 4 Dot App for Determining Size and Depth of Suppression.

Purpose: To describe and evaluate an iOS application suppression test, Worth 4 Dot App (W4DApp), which was designed and developed to assess size and depth of suppression.

Methods: Characteristics of sensory fusion were evaluated in 25 participants (age 12-69 years) with normal (n = 6) and abnormal (n = 19) binocular vision. Suppression zone size and classification of fusion were determined by W4DApp and by flashlight Worth 4 Dot (W4D) responses from 33 cm to 6 m.

Suppression Rather Than Visual Acuity Loss Limits Stereoacuity in Amblyopia.

Purpose: To investigate the influence of interocular suppression and visual acuity loss on stereoacuity in observers with and without abnormal vision development from strabismus or amblyopia. To determine whether stereoacuity improves in amblyopic observers when suppression is neutralized.

Methods: Experiment 1: Visual acuity (VA), depth of suppression (contrast ratio [CR]), and stereoacuity (digital random-dot) were tested in adult amblyopic observers (n = 21; age 27 ± 11 years).

Effects of simulated anisometropia and aniseikonia on stereopsis.

Purpose: Stereopsis depends on horizontally disparate retinal images but otherwise concordance between eyes. Here we investigate the effect of spherical and meridional simulated anisometropia and aniseikonia on stereopsis thresholds. The aims were to determine effects of meridian, magnitude and the relative effects of the two conditions.

Self-perception in Children Aged 3 to 7 Years With Amblyopia and Its Association With Deficits in Vision and Fine Motor Skills.

Importance: Deficits in fine motor skills and slow reading speed have been reported in school-aged children and adults with amblyopia. These deficits were correlated with lower self-perception of athletic and cognitive competence. Although perceived competence and social acceptance are key determinants of developing self-perception in young children, the association of amblyopia with self-perception and the association of altered self-perception with fine motor skills to date have not been reported for young children aged 3 to 7 years.

From suppression to stereoacuity: a composite binocular function score for clinical research.

Purpose: This study aimed to validate a binocular function score that is based on common clinical measures of visual function, providing a more complete analysis of binocular outcomes, against laboratory-based dichoptic tests of threshold stereoacuity and depth of suppression.

Methods: Scores on a composite binocular function (BF) score derived from clinical stereoacuity measures (Randot Preschool Stereoacuity Test and Randot Butterfly) and the Worth 4 Dot test were determined in adults (n = 20; age 24.8 ± 7.

Self-perception of School-aged Children With Amblyopia and Its Association With Reading Speed and Motor Skills.

Importance: Reading and eye-hand coordination deficits in children with amblyopia may impede their ability to demonstrate their knowledge and skills, compete in sports and physical activities, and interact with peers. Because perceived scholastic, social, and athletic competence are key determinants of self-esteem in school-aged children, these deficits may influence a child's self-perception.

Objective: To determine whether amblyopia is associated with lowered self-perception of competence, appearance, conduct, and global self-worth and whether the self-perception of children with amblyopia is associated with their performance of reading and eye-hand tasks.

A pragmatic approach to amblyopia diagnosis: evidence into practice.

Amblyopia is a common cause of reduced vision in children. The clinical diagnosis is complicated and requires consideration of the severity of vision loss relative to the characteristics of the disrupting amblyogenic factor. Added to the challenge of a thorough examination of very young children, is the weight of consequence if the amblyogenic factor is not identified and treated appropriately within clinically recommended time frames.

The functional impact of amblyopia.

Amblyopia is the most common disorder managed in paediatric ophthalmic practice in industrialised countries. Reports on the impact of amblyopia on tasks relevant to the activities of children, or on skills pertinent to their education and quality of life, is leading to greater understanding of the functional disabilities associated with the condition. This review considers the extent to which amblyopia affects the ability to carry out everyday tasks, with particular attention to studies of motor skills and reading proficiency in children.

Vision Recovery Despite Retinal Ganglion Cell Loss in Leber's Hereditary Optic Neuropathy.

Purpose: To report vision recovery in a single case of Leber's hereditary optic neuropathy (LHON) (mtDNA14484/ND6 mutation) with longitudinal documentation of retinal ganglion cell layer by ocular coherence tomography (OCT) that includes the pre-onset, acute, and chronic stages of vision loss.

Case Report: We report LHON in a 16-year-old male patient with Type 1 diabetes and known and documented family history of LHON. The patient presented with best-corrected visual acuities of right eye 20/150 and left eye 20/25-.