scholarly journals Trial Interventions in ABCA4- Retinopathy

2020 ◽  
Author(s):  
Majid Al Breiki
Keyword(s):  
Clinical Trials ◽  
Literature Review ◽  
Visual Impairment ◽  
Retinal Disease ◽  
Retinal Diseases ◽  
Research Opportunities ◽  
Treatment Trials ◽  
Inherited Retinal Disease ◽  
Intervention Trials ◽  
The Moment

Abstract: Inherited retinal diseases collectively are one of the leading causes of visual impairment worldwide. ABCA4 retinopathy is the most common inherited retinal disease. In the last few years, there are many advances in the understanding of this disease, which led to many interventional trials with promising results at the moment. This paper is going to present a brief background up to date knowledge in the context of the disease pathophysiology, the main mechanisms involved in this disease and related diseases, and different approaches of the intervention trials. I will be using a literature review to highlight the main structural, physiological, chemical, functional characteristics of ABCA4 transporter physiology. This will be followed by a brief discussion about pathophysiology. Next, analysing, extracting and comparing different interventional options and presenting the current clinical trials for each will be done. This paper expected to discusses and rationally compare between different treatment trials approaches their advantages over others and challenges. A sensible, possible application from current trials from different diseases with similar pathogenesis and possible research opportunities will be discussed.

scholarly journals Functional evaluation in inherited retinal disease

2021 ◽  
pp. bjophthalmol-2021-319994
Author(s):  
Malena Daich Varela ◽  
Michalis Georgiou ◽  
Shaima A Hashem ◽  
Richard G Weleber ◽  
Michel Michaelides
Keyword(s):  
Clinical Trials ◽  
Primary Outcome ◽  
Retinal Disease ◽  
Functional Evaluation ◽  
Retinal Diseases ◽  
Full Field ◽  
Inherited Retinal Disease ◽  
Wide Range ◽  
Functional Assessments ◽  
Field Static

Functional assessments are a fundamental part of the clinical evaluation of patients with inherited retinal diseases (IRDs). Their importance and impact have become increasingly notable, given the significant breadth and number of clinical trials and studies investigating multiple avenues of intervention across a wide range of IRDs, including gene, pharmacological and cellular therapies. Moreover, the fact that many clinical trials are reporting improvements in vision, rather than the previously anticipated structural stability/slowing of degeneration, makes functional evaluation of primary relevance. In this review, we will describe a range of methods employed to characterise retinal function and functional vision, beginning with tests variably included in the clinic, such as visual acuity, electrophysiological assessment and colour discrimination, and then discussing assessments often reserved for clinical trials/research studies such as photoaversion testing, full-field static perimetry and microperimetry, and vision-guided mobility testing; addressing perimetry in greatest detail, given it is commonly a primary outcome metric. We will focus on how these tests can help diagnose and monitor particular genotypes, also noting their limitations/challenges and exploring analytical methodologies for better exploiting functional measurements, as well as how they facilitate patient inclusion and stratification in clinical trials and serve as outcome measures.

Endpoints for Measuring Efficacy in Clinical Trials for Inherited Retinal Disease

2021 ◽  
Vol 61 (4) ◽  
pp. 63-78
Author(s):  
Daniel C. Chung ◽  
David G. Birch ◽  
Robert E. MacLaren
Keyword(s):  
Clinical Trials ◽  
Retinal Disease ◽  
Inherited Retinal Disease

scholarly journals Balancing the Photoreceptor Proteome: Proteostasis Network Therapeutics for Inherited Retinal Disease

Genes ◽  
2019 ◽  
Vol 10 (8) ◽  
pp. 557 ◽  
Author(s):  
Siebren Faber ◽  
Ronald Roepman
Keyword(s):  
Retinal Disease ◽  
Protein Accumulation ◽  
Retinal Diseases ◽  
High Turnover ◽  
Protein Balance ◽  
Light Sensing ◽  
Outer Segments ◽  
Inherited Retinal Disease ◽  
Tremendous Amount ◽  
Therapeutic Compounds

The light sensing outer segments of photoreceptors (PRs) are renewed every ten days due to their high photoactivity, especially of the cones during daytime vision. This demands a tremendous amount of energy, as well as a high turnover of their main biosynthetic compounds, membranes, and proteins. Therefore, a refined proteostasis network (PN), regulating the protein balance, is crucial for PR viability. In many inherited retinal diseases (IRDs) this balance is disrupted leading to protein accumulation in the inner segment and eventually the death of PRs. Various studies have been focusing on therapeutically targeting the different branches of the PR PN to restore the protein balance and ultimately to treat inherited blindness. This review first describes the different branches of the PN in detail. Subsequently, insights are provided on how therapeutic compounds directed against the different PN branches might slow down or even arrest the appalling, progressive blinding conditions. These insights are supported by findings of PN modulators in other research disciplines.

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

2019 ◽  
Vol 41 (1) ◽  
pp. 140-149 ◽  
Author(s):  
Dror Sharon ◽  
Tamar Ben‐Yosef ◽  
Nitza Goldenberg‐Cohen ◽  
Eran Pras ◽  
Libe Gradstein ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinal Disease ◽  
Retinal Diseases ◽  
Inherited Retinal Disease

scholarly journals Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence

2020 ◽  
Vol 9 (10) ◽  
pp. 3303
Author(s):  
Alexandra Miere ◽  
Thomas Le Meur ◽  
Karen Bitton ◽  
Carlotta Pallone ◽  
Oudy Semoun ◽  
...  
Keyword(s):  
Deep Learning ◽  
Learning Algorithm ◽  
Fundus Autofluorescence ◽  
Area Under The Curve ◽  
Retinal Disease ◽  
Relevant Information ◽  
Retinal Diseases ◽  
Autofluorescence Imaging ◽  
Comparable Group ◽  
Inherited Retinal Disease

Background. In recent years, deep learning has been increasingly applied to a vast array of ophthalmological diseases. Inherited retinal diseases (IRD) are rare genetic conditions with a distinctive phenotype on fundus autofluorescence imaging (FAF). Our purpose was to automatically classify different IRDs by means of FAF images using a deep learning algorithm. Methods. In this study, FAF images of patients with retinitis pigmentosa (RP), Best disease (BD), Stargardt disease (STGD), as well as a healthy comparable group were used to train a multilayer deep convolutional neural network (CNN) to differentiate FAF images between each type of IRD and normal FAF. The CNN was trained and validated with 389 FAF images. Established augmentation techniques were used. An Adam optimizer was used for training. For subsequent testing, the built classifiers were then tested with 94 untrained FAF images. Results. For the inherited retinal disease classifiers, global accuracy was 0.95. The precision-recall area under the curve (PRC-AUC) averaged 0.988 for BD, 0.999 for RP, 0.996 for STGD, and 0.989 for healthy controls. Conclusions. This study describes the use of a deep learning-based algorithm to automatically detect and classify inherited retinal disease in FAF. Hereby, the created classifiers showed excellent results. With further developments, this model may be a diagnostic tool and may give relevant information for future therapeutic approaches.

scholarly journals Clinical polymorphism and genetic heterogeneity of inherited retinal diseases

2020 ◽  
pp. 42-43
Author(s):  
И.В. Зольникова ◽  
В.В. Кадышев ◽  
А.В. Марахонов ◽  
Р.А. Зинченко
Keyword(s):  
Molecular Genetics ◽  
Genetic Heterogeneity ◽  
Retinal Disease ◽  
Retinal Diseases ◽  
Inherited Retinal Disease ◽  
Rod System ◽  
Cone System ◽  
Clinical Molecular Genetics

Наследственные заболевания сетчатки (НЗС) представляют собой класс офтальмологических болезней, в котором выделяют заболевания с преимущественным поражением палочковой системы и заболевания с преимущественным поражением колбочковой системы, включающие макулярные дистрофии. В представленном сообщении описана структура спектра НЗС в клинически полиморфной выборке на основании данных клинических, инструментальных (оптической когерентной томографии, аутофлюоресценции, электроретинографии) и молекулярно-генетических методов диагностики (NGS, секвенирование по Сэнгеру). Inherited retinal disease (IRD) is a class of ophthalmic disorders in which can be classified into diseases of primarily of rod system and with primarily of cone system, which include macular dystrophies. In the presented report the structure of spectrum of IRD in clinically polymorphic is presented on the base of clinical, molecular-genetics and instrumental (OCТ, autofluorescencе, eletroretinography).

Study of level and content of teachers’awareness in prevention and correction of visual impairment of students

2020 ◽  
pp. 54-61
Author(s):  
I. Ryabova ◽  
T. Sobolevskaya ◽  
N. Nezhkina ◽  
D. Chernogorov ◽  
O. Zverev
Keyword(s):  
Visual Impairment ◽  
Educational Organizations ◽  
Educational Training ◽  
School Students ◽  
Modern School ◽  
Visual Disorders ◽  
The Moment ◽  
Moscow School ◽  
State Schools ◽  
Insufficient Knowledge

The problem of preserving the vision of younger generation is one of the most pressing issues not only in the field of health, but also in the field of education. This problem has become especially important in the context of intensification of modern school students' education. Unfortunately, over the past decades, there has been an increase in prevalence of visual impairment of children. Currently there is a special term — «school short-sightedness (Myopia) ". According to many researchers, vision problems begin from the moment the children enter school, and this alarming trend is being detected around the world today. The article presents the results of a survey of Moscow school teachers conducted in January 2020 in order to identify the level and content of their knowledge about visual disorders, awareness of issues of vision protection and methods of work with students, as well as the request for training in activities aimed at preventing and correcting visual disorders of students. 387 teachers from Moscow state schools (31educational complex from different administrative districts of Moscow) took part in the survey. The survey data obtained confirm that today in educational organizations the work on protection of children's vision is episodic, or is not carried out. The reasons for this are insufficient knowledge and lack of special training of teachers in issues of vision protectionof students. All of the above confirms the relevance of development of measures for activities in educational organizations for vision protection, dictates the need to develop both methodological support and educational training programs for teachers aimed at prevention and correction of visual disorders of students.

scholarly journals Cartilage Injuries and Posttraumatic Osteoarthritis in the Wrist: A Review

Cartilage ◽  
2021 ◽  
pp. 194760352110219
Author(s):  
Jonny K. Andersson ◽  
Elisabet Hagert ◽  
Mats Brittberg
Keyword(s):  
Literature Review ◽  
Radius Fractures ◽  
Osteochondral Autograft ◽  
Posttraumatic Osteoarthritis ◽  
Osteochondral Repair ◽  
Chondrocyte Implantation ◽  
Cartilage Injuries ◽  
The Subject ◽  
The Moment ◽  
And Cartilage

Objective: Focal cartilage injuries, and posttraumatic osteoarthritis (OA) in the wrist are likely common and a cause of wrist pain. To estimate the incidence of cartilage lesions and to understand the pathomechanisms leading to wrist cartilage injuries and OA, a literature review on the subject was performed combined with a presentation of one of the authors’ own experience. Design: This study includes a literature review of the topic. As a comparison to the review findings, the observations of one of the authors’ consecutive 48 wrist arthroscopies, were assessed. PubMed, Scholar, and Cochrane databases were searched using the keywords “cartilage injury AND wrist AND treatment” and “wrist AND cartilage AND chondral AND osteochondral AND degenerative OA.” :Result A total of 11 articles, including 9 concerning chondral and osteochondral repair and treatment and 2 regarding posttraumatic OA, were retrieved. The cartilage repair treatments used in these articles were drilling, osteochondral autograft, juvenile articular cartilage allograft, and chondrocyte implantation. One article displayed concomitant cartilage injuries in displaced distal radius fractures in 32% of the patients. The review of our findings from a 1-year cohort of wrist arthroscopies showed 17% cartilage injuries. Conclusion: There is a lack of knowledge in current literature on cartilage injuries and treatment, as well as posttraumatic OA in the wrist. Cartilage injuries appear to be common, being found in 17% to 32% of all wrist arthroscopies after trauma, but no guidelines regarding conservative or surgical treatment can be recommended at the moment. Larger prospective comparative studies are needed.

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