Ophthalmology (Eye & Ear Hospital) - Research Publications

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    Optical coherence tomography in children with inherited retinal disease
    Jolly, JK ; Rodda, BM ; Edwards, TL ; Ayton, LN ; Ruddle, JB (TAYLOR & FRANCIS LTD, 2024-01-22)
    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. It is therefore necessary to have a comprehensive understanding of retinal imaging in children with inherited retinal diseases, in order to monitor disease progression and to determine which early retinal biomarkers may be used as outcome measures in future clinical trials. In addition, as many optometrists will review children with an inherited retinal disease, an understanding of the expected imaging outcomes can improve clinical care. This review focuses on the most common imaging modality used in research assessment of paediatric inherited retinal diseases: optical coherence tomography. Optical coherence tomography findings can be used in both the clinical and research setting. In particular, the review discusses current knowledge of optical coherence tomography findings in eight paediatric inherited retinal diseases - Stargardt disease, Bests disease, Leber's congenital amaurosis, choroideremia, RPGR related retinitis pigmentosa, Usher syndrome, X-linked retinoschisis and, Batten disease.
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    The association between keratoconus and allergic eye diseases: A systematic review and meta-analysis
    Seth, I ; Bulloch, G ; Vine, M ; Outmezguine, J ; Seth, N ; Every, J ; Daniell, M (Wiley, 2023-05)
    BACKGROUND: To investigate the association between keratoconus (KC) and allergic eye diseases, eye rubbing, and atopy. METHODS: PubMed, Web of Science, Scopus, and Cochrane databases were searched for studies investigating eye allergy, atopy, and eye rubbing as risk factors for KC up to April 2021. Two authors independently screened all titles and abstracts against the predefined inclusion and exclusion criteria. The study analysed the prevalence of KC and its risk factors, including eye rubbing, family history of KC, atopy, and allergic eye diseases. The National Institutes of Health Study Quality Assessment Tool was used. Pooled data are presented as odds ratios (OR) and 95% confidence intervals (CI). The analysis was conducted using RevMan version 5.4 software. RESULTS: The initial search yielded 573 articles. After screening, 21 studies were identified for qualitative analysis and 15 for quantitative synthesis. A significant association was found between KC and eye rubbing (OR = 5.22, 95% CI [2.80, 9.75], p < 0.00001), family history of KC (OR = 6.67, 95% CI [4.77, 9.33], p < 0.00001), and allergies (OR = 2.21, 95% CI [1.57, 3.13], p < 0.00001). However, no significant association was found between KC and allergic eye disease (OR = 1.82, 95% CI [0.37, 8.97], p = 0.46), atopy (OR = 1.54, 95% CI [0.58, 4.09], p = 0.39), allergic rhinitis (OR = 0.85, 95% CI [0.54, 1.33], p = 0.47), smoking (OR = 0.96, 95% CI [0.76, 1.21], p = 0.73), and asthma (OR = 1.58, 95% CI [0.99, 2.53], p = 0.05). CONCLUSION: Significant associations were observed between KC and eye rubbing, family history, and allergy, but not with allergic eye disease, atopy, asthma, and allergic rhinitis.
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    Systematic review and appraisal of quality, definitions and treatment recommendations of clinical guidelines for glaucoma suspects
    Wu, Z ; Karunaratne, S ; Ang, GS ; Martin, KR ; Downie, LE (WILEY, 2023-12-13)
    BACKGROUND: To appraise the quality of clinical practice guidelines for glaucoma suspects, and to assess their consistency for how a 'glaucoma suspect' is defined and their recommendations for treatment initiation for such individuals. METHODS: This study included all documents that self-identified as a 'guideline' and provided recommendation(s) for the clinical care of glaucoma suspects. The quality of eligible guidelines was assessed using the Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument. RESULTS: From 1196 records retrieved from comprehensive searches and two records manually included, 20 clinical practice guidelines were deemed eligible. Based on an appraisal using the AGREE II instrument, 16 (80%) guidelines had ≤2 domains with scores >66%. Overall, the lowest scoring domains were for applicability, editorial independence and stakeholder involvement. There was relatively poor agreement across the guidelines for what defines a 'glaucoma suspect' or 'primary open angle glaucoma [POAG] suspect', as well as the recommendations and criteria for treatment initiation in these populations. There was better agreement for the definition and recommendations for treatment initiation for 'primary angle closure suspects'. CONCLUSIONS: There is substantial room to improve the methodological quality of most current international clinical guidelines for glaucoma suspects. Clinicians should consider this finding when using such guidelines to inform their care of glaucoma suspects. Substantial variation in the definition of a POAG suspect and recommendations for treatment initiation underscores important gaps in the current evidence for the accurate prediction of glaucoma development and treatment effectiveness in these individuals.
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    OCT biomarkers of neurodegenerative diseases - reading the tea leaves or seeing the truth?
    van Wijngaarden, P ; Hadoux, X ; Christinaki, E ; De Groef, L ; Stalmans, I (TAYLOR & FRANCIS LTD, 2023-01-02)
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    Online Faculty Development on Curriculum Design in Simulation-based Education by International Collaboration - An Example from the Democratic Republic of the Congo.
    Filipe, HP ; Golnik, K ; Geary, AC ; Kilangalanga, J ; Mack, HG (Medknow, 2022)
    PURPOSE: Faculty development for procedural specialists is intended to improve clinical education and surgical/procedural skills. Despite challenging in under-resourced settings, this may be enhanced by developing international collaboration agreements and supported by online learning experiences. The Congolese Society of Ophthalmology and the International Council of Ophthalmology agreed to collaborate on implementing an online educational program to form a community of practice (CoP) of ophthalmologists educators and enhance competence in curriculum design and simulation-based education (SBE) on cataract surgery. METHODS: Ten Congolese ophthalmologists, faculty for the "Centre de Formation Ophthalmologique pour l'Afrique Centrale" (CFOACF), participated in a group-mentored 12-webinar modular program on curriculum design, in 2019. Considering the geo-social-cultural learning environment, we developed a curriculum framework incorporating social constructivism and experiential learning principles to facilitate the implementation of learning. Educational strategies included flipped, practice-based and social learning, group mentoring, and individual and collective reflection opportunities. A CoP was virtually nurtured using WhatsApp. Program evaluation relied on (a) feedback survey per module and 3 months upon conclusion, (b) individual declarative knowledge assessment, and (c) group assignment to test competence improvement. RESULTS: The CFOACF formed a virtual CoP, commented on an enjoyable opportunity to develop scholar teaching competence, expressed intention in systematically building educational curricula design that includes active learning strategies and effective feedback and showed individual learning and team-competence improvement. CONCLUSION: This first iteration of our online faculty development program nurtured the formation of a CoP of ophthalmologists' educators and enabled to practice a scholar teaching approach, especially applied to SBE.
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    Keratoconus International Consortium (KIC)- advancing keratoconus research
    Sahebjada, S ; Chan, E ; Sutton, G ; Pang, CPC ; Kerdraon, Y ; Natarajan, S ; Meteoukki, WN ; Ang, A ; Daniell, M ; Baird, P (BMC, 2023-07-27)
    CLINICAL RELEVANCE: The Keratoconus International Consortium (KIC) will allow better understanding of keratoconus. BACKGROUND: Keratoconus is a disorder characterised by corneal elevation and thinning, leading to reduced vision. The current gaps in understanding of this disease will be discussed and the need for a multi-pronged and multi-centre engagement to enhance our understanding of keratoconus will be highlighted. DESIGN: KIC has been established to address the gaps in our understanding of keratoconus with the aim of collecting baseline as well as longitudinal data on several fields. PARTICIPANTS: Keratoconus and control (no corneal condition) subjects from different sites globally will be recruited in the study. METHODS: KIC collects data using an online, secure database, which enables standardised data collection at member sites. Data fields collected include medical history, clinical features, quality of life and economic burden questionnaires and possible genetic sample collection from patients of different ethnicities across different geographical locations. RESULTS: There are currently 40 Australian and international clinics or hospital departments who have joined the KIC. Baseline data has so far been collected on 1130 keratoconus patients and indicates a median age of 29.70 years with 61% being male. A total of 15.3% report a positive family history of keratoconus and 57.7% self-report a history of frequent eye rubbing. CONCLUSION: The strength of this consortium is its international, collaborative design and use of a common data collection tool. Inclusion and analyses of cross-sectional and longitudinal data will help answer many questions that remain in keratoconus, including factors affecting progression and treatment outcomes.
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    Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand
    Britten-Jones, AC ; Mack, HGG ; Vincent, ALL ; Hill, LJJ ; Edwards, TLL ; Ayton, LNN (WILEY, 2024-01)
    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 testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.
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    Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey
    Gocuk, SA ; Edwards, TL ; Jolly, JK ; Ayton, LN (WILEY, 2024-02)
    Female carriers of X-linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease-causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey was advertised to self-identified carriers worldwide. Two hundred and twenty-eight carriers completed the survey with mean age of 51 years (SD ± 15.0). A majority of respondents resided in the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most carriers identified with feelings of guilt (70%), concern (91%), and anxiety (88%) for their child. Female carriers who had given birth to children had significantly greater gene therapy knowledge compared to carriers who had not (p < 0.05). Respondents agreed that their eyecare provider and general practitioner helped them understand their condition (63%), however, few carriers reported receiving psychological counselling (9%) or family planning advice (5%). Most respondents (78%) agreed that gene therapy should be available to carriers. This study emphasises the importance of providing appropriate counselling to female carriers and illustrates the motivation of many to participate in emerging treatment options, such as gene therapy.