Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.

: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. : A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing underwent commercial panel-based sequencing (Invitae or Blueprint Genetics), clinical assessment, and multimodal imaging. Retinal images were graded using the Human Phenotype Ontology terms.

Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.

Purpose: Genotyping patients with inherited retinal diseases (IRD) is important for diagnosis, genetic counselling, and future treatments. However, in Australia less than 10% of patients with IRD have undergone genetic testing. Recognised barriers to testing include cost, access, and trust in the treating clinician.

Inherited retinal disease in global Indigenous populations: A scoping review.

Accurate diagnosis is essential for accessing emerging gene-targeted treatments for inherited retinal diseases (IRDs), but many minoritised communities face additional barriers to diagnosis. This scoping review synthesised clinical studies on the prevalence and diagnosis of IRDs among Indigenous Peoples worldwide. Medline, Embase, Global Health, Informit and CINAHL were searched on December 4, 2023.

Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.

Accurate diagnosis of both age-related macular degeneration (AMD) and inherited retinal diseases (IRD) with macular atrophy is important because treatments for both conditions are emerging. Phenotypical similarities between macular atrophy associated with AMD (geographic atrophy, GA) and IRD-associated atrophy exist, which can make accurate diagnosis challenging in clinical practice. Misdiagnosis may lead to inappropriate treatment strategies and missed opportunities for disease-specific interventions.

Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases.

Background: Inherited retinal diseases (IRDs) are genetic conditions that typically cause vision loss in working-age adults, representing a unique hidden disability characterised by variable progression rates.

Objective: This qualitative study explored the lived experiences of adults in the early stages of IRDs, when vision loss is not outwardly apparent.

Methods: Semi-structured interviews were conducted with 15 individuals with IRDs (mean age 37 ± 17 years) with experiences of progressive vision loss in the last 10 years, exploring participants' experiences and challenges following their IRD diagnosis.

Retinal Disease Variability in Female Carriers of Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters.

We sought to investigate the visual function, retinal features, and genotype-phenotype correlations of an Australian cohort of carriers. In this cross-sectional study, we evaluated carriers seen in Melbourne and Perth between 2013 and 2023 and healthy women seen between 2022 and 2023 in Melbourne. Visual acuity tests, fundus-tracked microperimetry, and retinal imaging were performed.

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.

Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).

Design: Longitudinal observational follow-up study.

A Second-Generation (44-Channel) Suprachoroidal Retinal Prosthesis: A Single-Arm Clinical Trial of Feasibility.

Purpose: To assess the feasibility of a second-generation (44-channel) suprachoroidal retinal prosthesis for provision of functional vision in recipients with end-stage retinitis pigmentosa (RP) over 2.7 years.

Design: Prospective, single-arm, unmasked interventional clinical trial.

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

X-linked genetic disorders typically affect females less severely than males owing to the presence of a second X Chromosome not carrying the deleterious variant. However, the phenotypic expression in females is highly variable, which may be explained by an allelic skew in X-Chromosome inactivation. Accurate measurement of X inactivation skew is crucial to understand and predict disease phenotype in carrier females, with prediction especially relevant for degenerative conditions.

Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

Background/aims: Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry.

Autistic and autism community perspectives on infant and family support in the first two years of life: Findings from a community consultation survey.

Emerging evidence suggests parenting supports implemented in the first 2 years of life may influence developmental outcomes for infants more likely to be Autistic. Yet questions remain about acceptability of these supports to the Autistic and autism communities. Through mixed-methods participatory research - co-designed and produced by Autistic and non-Autistic researchers - we sought diverse community perspectives on this topic, including to understand the relative acceptability of different support options.

Functional performance of a vibrotactile sensory substitution device in people with profound vision loss.

Significance: This study has shown a vibrotactile sensory substitution device (SSD) prototype, VibroSight, has the potential to improve functional outcomes (i.e., obstacle avoidance, face detection) for people with profound vision loss, even with brief familiarization (<20 minutes).

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.

Purpose: To describe visual function and retinal features of female carriers of choroideremia (CHM), using multimodal imaging and microperimetry.

Design: Cross-sectional cohort study.

Participants And Controls: Choroideremia carriers seen in Australia (Melbourne or Perth) or the United Kingdom (Oxford or Cambridge) between 2012 and 2023.

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

Methods: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT.

Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals.

Purpose: Stickler Syndromes are multisystem collagenopathies affecting 1 in 7500-9000 individuals and are associated with craniofacial, ocular, auditory, and musculoskeletal complications. Prophylactic retinopexy treatment reduces the risk of retinal detachment, emphasising the need for early detection and multidisciplinary referral. This study evaluated knowledge and awareness of Stickler Syndromes among allied health professionals and their perceived needs for targeted education to improve multidisciplinary care.

A multinational survey of potential participant perspectives on ocular gene therapy.

Amidst rapid advancements in ocular gene therapy, understanding patient perspectives is crucial for shaping future treatment choices and research directions. This international cross-sectional survey evaluated knowledge, attitudes, and perceptions of ocular genetic therapies among potential recipients with inherited retinal diseases (IRDs). Survey instruments included the Attitudes to Gene Therapy-Eye (AGT-Eye), EQ-5D-5L, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25), and Patient Attitudes to Clinical Trials (PACT-22) instruments.

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.

This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy.

Optical coherence tomography in children with inherited retinal disease.

Recent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease. Recent studies suggest that gene therapy is likely to be most effective when implemented early in the disease process, making consideration of paediatric populations important.