Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians.

Background: Usher syndrome is the most common cause of deaf-blindness, affecting up to 1 in 6000 people. Multidisciplinary care is required to maximize outcomes for individuals and families. This study assessed awareness of Usher Syndrome amongst allied health clinicians who provide care related to the primarily affected senses of hearing and vision, ie, optometry, orthoptics and audiology.

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia.

Many gene therapies are in development for treating people with inherited retinal diseases (IRD). We hypothesized that potential recipients of gene therapy would have knowledge gaps regarding treatment. We aimed to assess knowledge, attitudes, and perceptions of genetic therapies among potential recipients with IRD, using a novel instrument we designed (Attitudes to Gene Therapy-Eye (AGT-Eye)) and their associations with demographic data, self-reported visual status, and tools assessing quality of life and attitudes toward clinical trials using a community-based cross-sectional survey of Australian adults with IRD.

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.

Background: Emerging treatments are being developed for inherited retinal diseases, requiring a clear understanding of natural progression and a database of potential participants for clinical trials. This article describes the rationale, study design and methodology of the Victorian Evolution of inherited retinal diseases NaTUral history REgistry (VENTURE), including data from the first 150 participants enrolled.

Methods: VENTURE collects retrospective and prospective data from people with inherited retinal diseases.

The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.

Purpose: This study aimed to systematically review and summarize gene therapy treatment for monogenic retinal and optic nerve diseases.

Methods: This review was prospectively registered (CRD42021229812). A comprehensive literature search was performed in Ovid MEDLINE, Ovid Embase, Cochrane Central, and clinical trial registries (February 2021).

Intereye Symmetry in Bietti Crystalline Dystrophy.

Purpose: To evaluate anatomic and functional intereye symmetry among individuals with Bietti crystalline dystrophy (BCD) using clinical and multimodal imaging methods, with a focus on the number, area, and distribution of the characteristic retinal crystalline deposits.

Design: Observational case series with prospective and retrospective data.

Methods: Setting: Multicenter.

The association of neutrophil-lymphocyte ratio and platelet-lymphocyte ratio with retinal vein occlusion: a systematic review and meta-analysis.

The neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) are emerging haematological inflammatory biomarkers. However, their significance in retinal vein occlusion (RVO) and its subtypes, branch and central RVO (BRVO and CRVO, respectively), is uncertain. This systematic review and meta-analysis aimed to clarify the association of NLR and PLR with RVO.

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.

Introduction: Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the gene, a rare cause of congenital and adult-onset retinal dystrophy (predominantly Leber congenital amaurosis). Previous studies have shown that individuals who might participate in gene therapy trials overestimate clinical effect and underestimate risks. However, little is known about the perspectives of patients who may be offered approved gene therapy treatment for ocular conditions (as distinct from participating in clinical trials of gene therapy).

Gene therapy for inherited retinal diseases: progress and possibilities.

Inherited retinal diseases (IRDs) comprise a heterogeneous group of genetic disorders affecting the retina. Caused by mutations in over 300 genes, IRDs result in visual impairment due to dysfunction and degeneration of photoreceptors, retinal pigment epithelium, or the choroid. Important photoreceptor IRDs include retinitis pigmentosa and Leber congenital amaurosis.

An optometrist's guide to the top candidate inherited retinal diseases for gene therapy.

This review presents the phenotypic and genotypic profiles of a select group of inherited retinal diseases (IRDs) that are currently the focus of retinal gene therapy trials globally. Research progress in IRD treatment trials may soon lead to their availability in Australia and New Zealand, as either approved treatment or a clinical trial. The salient clinical characteristics of retinitis pigmentosa-the largest IRD category-are highlighted, with specific reference to -associated Leber congenital amaurosis, followed by other specific IRDs, namely choroideremia and -associated Stargardt disease.

Psychosocial assessment of potential retinal prosthesis trial participants.

Background: As the field of retinal prostheses advances, volunteers are required for device trials, and optimal participant recruitment is vital for intervention success. The aims of this study were: (i) to select tests that assess the psychosocial aspects of visual impairment and develop a psychosocial assessment protocol for persons who may be eligible for participation in retinal prostheses trials; (ii) to investigate correlations between these tests; and (iii) to determine associations between psychosocial factors and a person's interest in participating in a retinal prosthesis (bionic eye) trial.

Methods: Cross-sectional study of 72 adults with advanced retinal degeneration.

Comparing two methods for delivering clinical trial informed consent information to older adults: singular versus stepped approach.

Background: Adapting the informed consent process to the needs of older adults may enhance engagement and willingness to participate in a clinical trial. A key aspect of the process is being provided with written clinical trial information and consent documents and having an opportunity to discuss the information with the researcher. However, there are no guidelines on the most appropriate method for delivering this information to older adults and it is not known whether the delivery method is a facilitator or barrier towards clinical trial participation.

Impact of informed consent content and length on recruitment of older adults into a community based primary prevention trial.

Aims: To compare recruitment, refusal and randomisation rates of older adults into a general practice-based clinical trial with two versions (varied format, content and language) of the Participant Information and Consent Form (PICF).

Methods: This prospective PICF study was conducted within the STAREE (STAtins in Reducing Events in the Elderly) clinical trial. Participants phone screened between October 2015 to February 2016 formed Group 1 and were mailed the extended PICF version and participants phone screened between October 2016 to February 2017 formed Group 2 and were mailed the shortened PICF version.

Problem-solving therapy for adults with diabetic retinopathy and diabetes-specific distress: a pilot randomized controlled trial.

Objective: To provide preliminary evidence for the impact of problem-solving therapy for diabetes (PST-D) in adults with diabetic retinopathy (DR) and diabetes distress.

Research Design And Methods: In a pilot randomized controlled trial, 40 participants with DR and diabetes distress were allocated to the PST-D or control groups. Diabetes distress (DDS), depressive symptoms (PHQ-9), self-care activities (SDSCA), and HbA were assessed at baseline, and 3 and 6-month follow-ups.

Developing a Very Low Vision Orientation and Mobility Test Battery (O&M-VLV).

Purpose: This study aimed to determine the feasibility of an assessment of vision-related orientation and mobility (O&M) tasks in persons with severe vision loss. These tasks may be used for future low vision rehabilitation clinical assessments or as outcome measures in vision restoration trials.

Methods: Forty legally blind persons (mean visual acuity logMAR 2.

Rasch Analysis of the Independent Mobility Questionnaire.

Purpose: The Independent Mobility Questionnaire (IMQ) assesses participants' perceived ability for independent mobility. However, it has not been validated in a severely visually impaired population. The aim of this study was to explore the IMQ's psychometric properties in participants with severe visual impairment.

Developing an instrumental activities of daily living tool as part of the low vision assessment of daily activities protocol.

Purpose: To determine the validity, reliability, and measurement characteristics using factor and Rasch analysis of the Very Low Vision Instrumental Activities of Daily Living (IADL-VLV) in persons with severe vision loss.

Methods: From an initial pool of 296 tasks, 25 were shortlisted after conducting a Delphi survey with persons designated legally blind. Using further input from occupational therapy and low-vision professionals, 11 activities were chosen to be pilot tested.

Auditory neuropathy in individuals with Type 1 diabetes.

Peripheral neuropathy is a major consequence of diabetes mellitus with up to 50 % of patients showing clinically significant neural injury during the disease course. Hearing loss (as defined by impaired sound detection thresholds) is a recognized symptom of DM, but the possibility of auditory neuropathy (AN) has not been explored in this population. This pilot study investigated peripheral auditory function, auditory processing and speech perception in individuals with Type 1 diabetes mellitus (T1DM) and compared the findings with measures of vestibular function, ocular pathology/visual acuity and overall neurologic profile.

Auditory and visual temporal processing disruption in open angle glaucoma.

Purpose: Open angle glaucoma (OAG) is increasingly being viewed as an age-related neurodegenerative condition that may occur in individuals who are innately susceptible to global (autonomic) neural injury. Recent data support the plausibility of auditory neural impairment in a proportion of individuals with OAG, with results showing a key disruption to processing temporal properties of sound. This study tested the hypothesis that temporal processing deficits consistent with central (cortical) processing abnormalities are present in both the visual and auditory domains in individuals with glaucoma.

Sociodemographic factors and utilization of eye care services: is there an association with patients presenting to a tertiary referral hospital in acute angle-closure?

Background: The aim of this study is to examine the relationship between sociodemographic factors and utilization of eye care services in patients presenting in acute angle-closure (AAC).

Design: A hospital-based retrospective, case-control study.

Participants: Fifty-five patients consecutively presenting to the emergency department of the Royal Victorian Eye and Ear Hospital with AAC (cases), and 43 patients consecutively referred to the outpatient department for prophylactic laser peripheral iridotomy (controls) over a 3-year period.

Is primary open-angle glaucoma part of a generalized sensory neurodegeneration? A review of the evidence.

Open-angle glaucoma is an optic neuropathy that has a multifarious aetiological profile. Emerging theories suggest that a group of factors induce optic nerve injury in innately susceptible aging optic nerves. These factors have the potential to impact on the function of other vulnerable neurons within the central nervous system of older patients.

Impaired complex-I-linked respiration and ATP synthesis in primary open-angle glaucoma patient lymphoblasts.

Purpose: Following the recent demonstration of increased mitochondrial DNA mutations in lymphocytes of POAG patients, the authors sought to characterize mitochondrial function in a separate cohort of POAG.

Methods: Using similar methodology to that previous applied to Leber's hereditary optic neuropathy (LHON) patients, maximal adenosine triphosphate (ATP) synthesis and cellular respiration rates, as well as cell growth rates in glucose and galactose media, were assessed in transformed lymphocytes from POAG patients (n = 15) and a group of age- and sex-matched controls (n = 15).

Results: POAG lymphoblasts had significantly lower rates of complex-I-driven ATP synthesis, with preserved complex-II-driven ATP synthesis.

Prevalence of signs and symptoms of ocular surface disease in individuals treated and not treated with glaucoma medication.

Background:   To determine the prevalence of signs and symptoms of ocular surface disease in two hospital-based cohorts; glaucoma patients and non-glaucoma patients.

Design:   A cross-sectional, comparative case series.

Participants:   Glaucoma patients (n = 300) prescribed topical glaucoma medications for ≥6 months were compared with control patients (n = 100) who were not applying prescribed topical medications.

Auditory processing deficits in individuals with primary open-angle glaucoma.

Objective: The high energy demand of the auditory and visual pathways render these sensory systems prone to diseases that impair mitochondrial function. Primary open-angle glaucoma, a neurodegenerative disease of the optic nerve, has recently been associated with a spectrum of mitochondrial abnormalities. This study sought to investigate auditory processing in individuals with open-angle glaucoma.

Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees.

The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of neurological abnormalities associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners. Forty-eight subjects confirmed by genetic testing as having one of four mitochondrial mutations associated with LHON (mt11778, mtDNA14484, mtDNA14482 and mtDNA3460) participated. Thirty-two of these had lost vision, and 16 were asymptomatic at the point of data collection.