Alexis Ceecee Britten‐Jones
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View article: Genetics and eye health: research advances and implications for primary eyecare
Genetics and eye health: research advances and implications for primary eyecare Open
Ocular genetics research has seen tremendous growth in the last two decades. Understanding the genetic basis of eye diseases helps researchers comprehend their heritability, uncover disease mechanisms, and develop targeted gene therapies. …
View article: Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease Open
This Stargardt's Connected Research Network initiative outlines a multistakeholder engagement model to discuss ongoing research and emerging treatments for Stargardt disease, a condition with promising therapeutic developments.
View article: Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases
Navigating a hidden disability: Lived experiences and challenges of adults with early stage inherited retinal diseases Open
Beyond vision impairment, individuals with IRDs face numerous personal and interpersonal challenges due to the hidden nature of their disability. These challenges are not always immediately apparent, highlighting the importance of raising …
View article: Cochrane reviews’ authorship has become more gender-diverse but remains geographically concentrated: a meta-research study
Cochrane reviews’ authorship has become more gender-diverse but remains geographically concentrated: a meta-research study Open
Both Cochrane and non-Cochrane reviews demonstrate important progress in author diversity, particularly in gender representation and inclusion of authors from non-English speaking countries. While non-Cochrane reviews show stronger represe…
View article: De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa Open
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent de novo variants in the …
View article: Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study
Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Epidemiology and Risk Factors of Dry Eye Disease: Considerations for Clinical Management
Epidemiology and Risk Factors of Dry Eye Disease: Considerations for Clinical Management Open
Dry eye disease is a multifactorial condition characterised by tear film instability, hyperosmolarity and ocular surface inflammation. Understanding the epidemiology of dry eye disease and recognising both modifiable and non-modifiable ris…
View article: Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network
Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network Open
This study reveals several critical gaps in managing IRDs in the APAC region. These include the lack of IRD database/registry in one-third of centres, a substantial proportion of patients remaining genetically undiagnosed, and limited avai…
View article: Tear neuropeptide Y as a non-invasive marker of peripheral microvascular complications in type 1 diabetes
Tear neuropeptide Y as a non-invasive marker of peripheral microvascular complications in type 1 diabetes Open
Tear NPY has potential utility as an indicator of peripheral microvascular complications associated with type 1 diabetes.
View article: Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals
Clinician Awareness of Stickler Syndromes Among Australian Allied Health Care Professionals Open
This study provides meaningful insights on awareness and knowledge of Stickler Syndromes among allied healthcare professionals. Targeted clinician education, enhanced communication between healthcare entities, and multidisciplinary care pr…
View article: Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study
Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study Open
Background Cochrane is a recognized source of quality evidence that informs health-related decisions. As an organization, it represents a global network of diverse stakeholders. Cochrane’s key organizational values include diversity and in…
View article: Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study
Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study Open
Background: Cochrane is a recognized source of quality evidence that informs health-related decisions. As an organization, it represents a global network of diverse stakeholders. Cochrane’s key organizational values include diversity and i…
View article: Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study
Geographical and Gender Diversity in Cochrane and non-Cochrane Reviews Authorship: A Meta-Research Study Open
Background: Cochrane is a recognized source of quality evidence that informs health-related decisions. As an organization, it represents a global network of diverse stakeholders. Cochrane’s key organizational values include diversity and i…
View article: Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature
Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature Open
Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells. Applications of AO show great promise in advancing our understanding of the etiology of inherited retinal disease (IRDs) and discovering new imaging bioma…
View article: Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in <scp>Australia</scp> and <scp>New Zealand</scp>
Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in <span>Australia</span> and <span>New Zealand</span> Open
With advances in gene‐based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross‐sectional survey evaluated knowledge, attitudes, and concerns regarding genetic test…
View article: Omega-3 fatty acid supplementation for distal symmetrical peripheral neuropathy in adults with diabetes mellitus
Omega-3 fatty acid supplementation for distal symmetrical peripheral neuropathy in adults with diabetes mellitus Open
This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To evaluate the benefits and harms of omega‐3 polyunsaturated fatty acid (PUFA) supplements as a treatment for DSPN in people with diabetes mellitus co…
View article: TFOS Lifestyle - Evidence quality report: Advancing the evaluation and synthesis of research evidence
TFOS Lifestyle - Evidence quality report: Advancing the evaluation and synthesis of research evidence Open
View article: Improving population‐level refractive error monitoring via mixture distributions
Improving population‐level refractive error monitoring via mixture distributions Open
Introduction Sampling and describing the distribution of refractive error in populations is critical to understanding eye care needs, refractive differences between groups and factors affecting refractive development. We investigated the a…
View article: Table of Contents
Table of Contents Open
View article: Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases
Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases Open
PURPOSE: To assess the measurement properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) instrument among Australian adults with inherited retinal diseases (IRDs) and parents/caregivers of people with IRDs. Constructs of intere…
View article: The association of neutrophil–lymphocyte ratio and platelet–lymphocyte ratio with retinal vein occlusion: a systematic review and meta‐analysis
The association of neutrophil–lymphocyte ratio and platelet–lymphocyte ratio with retinal vein occlusion: a systematic review and meta‐analysis Open
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 C…
View article: Investigating the NeuroPRotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): a Randomised, Placebo-Controlled Trial
Investigating the NeuroPRotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): a Randomised, Placebo-Controlled Trial Open
This randomised, double-masked, placebo-controlled trial (ACTRN12618000705280) evaluated the effects of oral omega-3 fatty acid supplementation on peripheral nerves in type 1 diabetes. Participants with type 1 diabetes were assigned (1:1) …
View article: Investigating the Neuroprotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): A Randomized Placebo-Controlled Trial
Investigating the Neuroprotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): A Randomized Placebo-Controlled Trial Open
This randomized, double-masked, placebo-controlled trial evaluated the effects of oral omega-3 (n-3) fatty acid supplementation on peripheral nerves in type 1 diabetes. Participants with type 1 diabetes were assigned (1:1) to n-3 (1,800 mg…
View article: Investigating the NeuroPRotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): a Randomised, Placebo-Controlled Trial
Investigating the NeuroPRotective Effect of Oral Omega-3 Fatty Acid Supplementation in Type 1 Diabetes (nPROOFS1): a Randomised, Placebo-Controlled Trial Open
This randomised, double-masked, placebo-controlled trial (ACTRN12618000705280) evaluated the effects of oral omega-3 fatty acid supplementation on peripheral nerves in type 1 diabetes. Participants with type 1 diabetes were assigned (1:1) …