Publications by authors named "Lotery A"
Article Synopsis
- * By analyzing data from the Million Veteran Program and other cohorts, the study identifies 63 genetic loci linked to AMD, including 30 that were previously unknown, highlighting significant differences in risk among various ancestries.
- * The findings reveal that certain genetic risk factors, like those found in the CFH locus, have varying effects based on ancestry, suggesting that targeted therapies could be developed by considering these genetic differences.
Article Synopsis
- Age-related macular degeneration (AMD) is the primary cause of permanent blindness in developed countries, with certain genetic variations in the complement factor I (CFI) gene increasing the risk of developing the disease.
- Research focusing on the Finnish population revealed novel CFI rare variants (RVs) in individuals with dry AMD, highlighting the need to understand how these genetic factors influence disease progression.
- Functional assays showed the G547R variant severely disrupts CFI's regulatory role in the complement system, while another variant, G328R, affects protein production; these findings suggest that certain RVs significantly contribute to AMD risk in this population.
Article Synopsis
- Globally, while people are living longer, many experience a decline in health due to age-related diseases, highlighting the need for better classification systems to address these issues.
- A consensus meeting with 150 experts established criteria for identifying ageing-related pathologies, requiring a 70% agreement for approval among participants.
- The agreed criteria focus on conditions that progress with age, contribute to functional decline, and are backed by human studies, setting a foundation for future classification and staging efforts.
Article Synopsis
- Some patients with neovascular age-related macular degeneration (nAMD) and diabetic macular oedema (DMO) don't respond well to standard anti-VEGF treatments, prompting the need for alternative therapies like faricimab.
- A meeting with UK retina specialists discussed how to identify patients who could benefit from switching treatments and reviewed relevant clinical trial data and real-world experiences.
- The panel emphasized the importance of recognizing suboptimal responses and proposed strategies for integrating faricimab into current treatment plans for patients with a history of anti-VEGF therapy.
Purpose: To report a case of central retinal artery and common carotid artery occlusions following COVID-19 infection in a young female with no other risk factors.
Methods: Retrospective analysis of the medical notes of a patient hospitalized with COVID 19 infection at University Hospital Southampton.
Results: The patient was found to have dural venous sinus thrombosis and an acute infarct within the right parietal lobe.
Deep learning has potential to automate screening, monitoring and grading of disease in medical images. Pretraining with contrastive learning enables models to extract robust and generalisable features from natural image datasets, facilitating label-efficient downstream image analysis. However, the direct application of conventional contrastive methods to medical datasets introduces two domain-specific issues.
View Article and Find Full Text PDFArticle Synopsis
- - The study presents a deep learning system aimed at speeding up the identification of new biomarkers for age-related macular degeneration (AMD) using a large dataset of retinal OCT images from 3,456 adults aged 51-102 years.
- - A neural network trained with self-supervised learning identified features in 46,496 OCT images, which were then categorized into 30 clusters to help specialists assign clinical meanings to these features.
- - The results showed that 27 out of 30 clusters had distinct characteristics related to AMD, with 7 corresponding to established biomarkers and 16 potentially representing new or recent biomarker combinations not currently used in grading systems.
Article Synopsis
- This project aimed to investigate the standards of genetic testing and counseling for patients with inherited retinal diseases (IRDs) in select European countries, focusing on expert opinions about current challenges and potential improvements in patient care.
- A survey was distributed to professionals across ten European nations, gathering data on the prevalence of genetic testing and counseling practices.
- Results showed that while genetic tests are common and largely funded by public health services, many IRD patients still lack adequate testing and counseling, highlighting the need for better education for healthcare providers, improved access to advanced testing, and more genetic counselors.
This study formed part of a diagnostic test accuracy study to quantify the ability of three index home monitoring (HM) tests (one paper-based and two digital tests) to identify reactivation in Neovascular age-related macular degeneration (nAMD). The aim of the study was to investigate views about acceptability and explore adherence to weekly HM. Semi-structured interviews were held with 98 patients, family members, and healthcare professionals.
View Article and Find Full Text PDFBackground: Most neovascular age-related macular degeneration treatments involve long-term follow-up of disease activity. Home monitoring would reduce the burden on patients and those they depend on for transport, and release clinic appointments for other patients. The study aimed to evaluate three home-monitoring tests for patients to use to detect active neovascular age-related macular degeneration compared with diagnosing active neovascular age-related macular degeneration by hospital follow-up.
View Article and Find Full Text PDFPurpose: This review aims to summarize the current knowledge concerning the clinical features, diagnostic work-up, and therapeutic approach of uveitic epiretinal membranes (ERM).
Methods: A thorough investigation of the literature was conducted using the PubMed database. Additionally, a complementary search was carried out on Google Scholar to ensure the inclusion of all relevant items in the collection.
Rare variants (RVs) in the gene encoding the regulatory enzyme complement factor I (CFI; FI) that reduce protein function or levels increase age-related macular degeneration risk. A total of 3357 subjects underwent screening in the SCOPE natural history study for geographic atrophy secondary to age-related macular degeneration, including CFI sequencing and serum FI measurement. Eleven CFI RV genotypes that were challenging to categorize as type I (low serum level) or type II (normal serum level, reduced enzymatic function) were characterized in the context of pure FI protein in C3b and C4b fluid phase cleavage assays and a novel bead-based functional assay (BBFA) of C3b cleavage.
View Article and Find Full Text PDFCentral Serous Chorioretinopathy: Epidemiology, Genetics and Clinical Features.
Annu Rev Vis Sci
May 2024
Central serous chorioretinopathy (CSCR) is the fourth most common medical retinal disease. Moderate vision loss occurs in approximately one-third of patients who have the chronic form of the disease. CSCR has a multifactorial etiology, with acquired risk factors and increasing evidence of genetic susceptibility factors.
View Article and Find Full Text PDFImportance: Most neovascular age-related macular degeneration (nAMD) treatments involve long-term follow-up of disease activity. Home-monitoring would reduce the burden on patients and their caregivers and release clinic capacity.
Objective: To evaluate 3 vision home-monitoring tests for patients to use to detect active nAMD compared with diagnosing active nAMD at hospital follow-up during the after-treatment monitoring phase.
Self-supervised learning (SSL) has emerged as a powerful technique for improving the efficiency and effectiveness of deep learning models. Contrastive methods are a prominent family of SSL that extract similar representations of two augmented views of an image while pushing away others in the representation space as negatives. However, the state-of-the-art contrastive methods require large batch sizes and augmentations designed for natural images that are impractical for 3D medical images.
View Article and Find Full Text PDFMorph-SSL: Self-Supervision With Longitudinal Morphing for Forecasting AMD Progression From OCT Volumes.
IEEE Trans Med Imaging
September 2024
The lack of reliable biomarkers makes predicting the conversion from intermediate to neovascular age-related macular degeneration (iAMD, nAMD) a challenging task. We develop a Deep Learning (DL) model to predict the future risk of conversion of an eye from iAMD to nAMD from its current OCT scan. Although eye clinics generate vast amounts of longitudinal OCT scans to monitor AMD progression, only a small subset can be manually labeled for supervised DL.
View Article and Find Full Text PDFArticle Synopsis
- - Acute retinal necrosis (ARN) is a serious eye condition characterized by inflammation and necrosis of the retina, which can result in severe visual impairment and high rates of retinal detachment, even with quick intervention.
- - Diagnosis of ARN can be complex and is aided by established clinical criteria and modern imaging techniques, including the use of AI, while advancements in PCR and flow cytometry have improved the identification of viral causes.
- - First-line treatments include systemic antivirals, such as high-dose valaciclovir or intravenous aciclovir, often in combination with intravitreal foscarnet, but ongoing research is essential to enhance treatment outcomes and prevent vision loss.
Purpose: This review aims to summarize the current knowledge concerning the clinical features, diagnostic work-up, and therapeutic approach of bilateral diffuse uveal melanocytic proliferation (BDUMP).
Methods: A meticulous literature search was performed in the PubMed database. A supplementary search was made in Google Scholar to complete the collected items.
Central retinal artery occlusion after cardioversion of atrial fibrillation.
Retin Cases Brief Rep
March 2024
Central retinal artery occlusion (CRAO) is a vascular ophthalmic emergency. Often caused by a sudden interruption of blood flow to the eye, with profound and painless vision loss, resulting in irreversible cell damage. An impacted embolus at the narrowest part of the central retinal artery is the most common cause.
View Article and Find Full Text PDFObjectives: Remote monitoring of health has the potential to reduce the burden to patients of face-to-face appointments and make healthcare more efficient. Apps are available for patients to self-monitor vision at home, for example, to detect reactivation of age-related macular degeneration (AMD). Describing the challenges when implementing apps for self-monitoring of vision at home was an objective of the MONARCH study to evaluate two vision-monitoring apps on an iPod Touch (Multibit and MyVisionTrack).
View Article and Find Full Text PDFPurpose: To describe inequalities in the Monitoring for Neovascular Age-related Macular Degeneration Reactivation at Home (MONARCH) diagnostic test accuracy study for: recruitment; participants' ability to self-test; and adherence to testing using digital applications during follow-up.
Methods: Home-monitoring vision tests included two tests implemented as software applications (apps: MyVisionTrack and MultiBit) on an iPod Touch device. Patients were provided with all hardware required to participate (iPod and MIFI device) and trained to use the apps.
Central serous chorioretinopathy (CSC) is a relatively common disease that causes vision loss due to macular subretinal fluid leakage and it is often associated with reduced vision-related quality of life. In CSC, the leakage of subretinal fluid through defects in the retinal pigment epithelial layer's outer blood-retina barrier appears to occur secondary to choroidal abnormalities and dysfunction. The treatment of CSC is currently the subject of controversy, although recent data obtained from several large randomized controlled trials provide a wealth of new information that can be used to establish a treatment algorithm.
View Article and Find Full Text PDFPunctate inner choroidopathy (PIC) is an uncommon idiopathic inflammatory condition characterized by multifocal chorioretinopathy that primarily affects young adults, with a predilection for myopic females. Clinically, it manifests as small, yellowish-white lesions in the inner choroid and outer retina, often associated with inflammatory changes. Accurate diagnosis remains a challenge due to its resemblance to other posterior uveitic entities, necessitating an astute clinical eye and advanced imaging techniques for differentiation.
View Article and Find Full Text PDFAsymptomatic retinal dysfunction in a patient with alpha-methylacyl-CoA racemase deficiency.
Retin Cases Brief Rep
January 2024
Article Synopsis
- A young female patient was found to have retinal dysfunction without any symptoms, linked to a rare genetic condition known as AMACR racemase deficiency.
- A thorough examination including imaging techniques and genetic testing confirmed abnormalities in her retinal pigment epithelium and identified a specific genetic mutation.
- Unlike other cases, this patient showed no neurological deficits or systemic disorders, highlighting a unique aspect of AMACR deficiency.