Publications by authors named "Giuliana Silvestri"
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.
Article Synopsis
- The study aimed to assess the thickness of the macular retina and central choroid in a group of Ghanaians and compare these measurements to those of individuals with European and other African ancestries.
- It involved 42 Ghanaians, 37 Europeans, and an additional 1,427 subjects of African ancestry, using OCT scans to gather data on retinal thickness.
- Results showed that Ghanaians' macular retina and central choroid were significantly thinner than those of Europeans, with age and sex also influencing thickness, highlighting that established norms for retinal thickness may not apply to all populations.
Article Synopsis
- - A study was conducted to examine vitreomacular interface abnormalities (VMIA) using SD-OCT in Ghanaian adults aged 50 and older, focusing on their correlation with age-related macular degeneration (AMD) grade.
- - Out of 718 participants, 624 (mainly females) had their eye health assessed, revealing that a majority displayed no posterior vitreous detachment (PVD), while only a small percentage exhibited VMIA.
- - Results indicated that VMIA are prevalent among Africans, but PVD appears less common compared to Caucasians, and there was no significant link found between VMIA and AMD grade.
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Invest Ophthalmol Vis Sci
July 2023
Article Synopsis
- Usher syndrome (USH) is a genetic condition causing deaf-blindness, characterized by retinal degeneration, hearing loss, and balance issues, and affects a significant portion of the Irish population.
- In a study of 145 Irish USH patients, the majority were classified as USH2, with a genetic diagnosis achieved in over 82% of cases, primarily linked to mutations in MYO7A or USH2A genes.
- The findings suggest that understanding the genetic diversity of USH in Ireland could improve clinical management and access to treatments for affected individuals and their families.
Article Synopsis
- - Over 15% of patients with inherited retinal degeneration have been diagnosed with Stargardt disease (STGD1), a genetic disorder linked to mutations in the ABCA4 gene, which can be identified through various genetic testing methods.
- - A specific pathogenic variant, ABCA4 c.4539 + 2028C > T, was found in 25 individuals from an Irish STGD1 cohort and is significant for its role in a pseudoexon inclusion that affects retinal function.
- - The study highlights the importance of identifying genetic variants within populations, particularly founder variants, as they can aid in diagnosing STGD1 and understanding the condition's severity, showing potential relevance for many individuals of Irish descent worldwide.
Article Synopsis
- West African crystalline maculopathy (WACM) features crystal-like deposits in the macula, with a study analyzing its characteristics and possible biological factors among a group of participants with this condition.* -
- The study involved 53 participants, predominantly aged around 68, and utilized various methods including medical histories, exams, and imaging to evaluate the presence and distribution of crystals.* -
- Findings showed WACM in 106 eyes with a notable link to the complement factor H (CFH) 402H genetic variant, while factors such as age and sex showed no significant associations.*
Article Synopsis
- The study assessed the risks associated with cataract surgery during the COVID-19 pandemic, focusing on patients' existing health conditions that could heighten their vulnerability to severe COVID-19 outcomes.
- Conducted from June to July 2020, it involved 315 patients, highlighting that 21% were classified as 'clinically extremely vulnerable' due to conditions like severe respiratory disease and cancer.
- Despite the high-risk status, there were no significant differences in gender or surgical complexity between high-risk and non-high-risk groups, but a notable portion (57%) were waiting for their first cataract surgery with varying degrees of visual acuity.
Article Synopsis
- A study was conducted to determine how common ocular sarcoidosis (OS) is in Northern Ireland, using the IWOS criteria from 2019, as there was no previous data available for this region.
- The review identified 86 patients with OS, revealing a prevalence rate of 4.5 cases per 100,000 people, highlighting that panuveitis and ocular hypertension were the most common complications.
- The findings indicated a significant progression of ocular involvement to multi-organ disease in 80% of cases, with the lungs being the most frequently affected extra-ocular site, suggesting the need for further imaging and tests in suspected cases.
Article Synopsis
- Inherited retinal degenerations (IRD) are rare genetic disorders with over 300 known genetic loci that cause progressive visual dysfunction, but they historically lacked effective treatments requiring improved diagnosis and management pathways.
- The Target 5000 initiative in Ireland, developed through expert surveys, focused on detailed patient assessment and genetic testing to create personalized care plans with a multidisciplinary team, ultimately identifying pathogenic variants in 62.3% of patients.
- The program resulted in significant cost savings, improved patient engagement, and a model for future IRD programs, showing promise for discovering new genetic variants and treatment options.
Article Synopsis
- Keratoconus is a genetic corneal condition, and researchers found 23 rare gene variants related to it by examining families with multiple affected members.
- Eight genes were identified with variants that may contribute to keratoconus, including HSPG2 and EML6, which have been previously linked to eye conditions.
- The study also highlighted the roles of these genes in corneal cell functions, like cytoskeleton regulation and response to injury, suggesting their involvement in the development and progression of keratoconus.
Article Synopsis
- A study was conducted on patients with neovascular age-related macular degeneration (nAMD) to analyze the levels of neutrophil gelatinase-associated lipocalin (LCN2) and its relation to anti-VEGF therapy responsiveness.
- The study included 174 nAMD patients and found that the plasma levels of LCN2 were higher in these patients compared to healthy controls, though the difference diminished after adjusting for age.
- Additionally, LCN2 levels were positively correlated with age and circulating neutrophils in nAMD patients but not in healthy controls, highlighting a potential link between inflammation and disease progression in nAMD.
Article Synopsis
- The paper examines how COVID-19 disruptions affected the certification of Sight Impairment (SI) and Severe Sight Impairment (SSI) in Northern Ireland, comparing pre-lockdown and lockdown periods.
- There was a significant drop in certifications from 115 individuals in the same three months of 2019 to only 37 in 2020, marking a 68% decrease.
- The data showed that the mean visual acuity worsened during lockdown and there was a shift towards higher SSI certifications, indicating a decline in overall eye health among those certified during this time.
Article Synopsis
- The study aimed to analyze the foveal pit structure in a Ghanaian population and compare it with a Caucasian group, assessing age-related changes in both.
- Optical coherence tomography scans of 84 Ghanaians and 37 Caucasians were used to measure the foveal pit's depth, width, slope, and volume, factoring in variables like age, sex, and ethnicity.
- Results revealed significant differences in the foveal morphology between the two groups, with Ghanaians exhibiting greater width and volume, especially in women, highlighting the importance of these anatomical variations in understanding retinal diseases among different ethnicities.
Article Synopsis
- The Irish national registry, Target 5000, aims to identify individuals with inherited retinal disorders in Ireland and determine the genetic causes behind their conditions.
- Participants undergo a detailed clinical assessment and, if eligible, provide samples for genetic analysis using targeted gene panel sequencing.
- The program has screened over 1,000 participants, achieving a 70% candidate variant detection rate, while also finding many novel variants, though the future may shift towards whole genome and exome sequencing due to falling costs.
Article Synopsis
- A study assessed the long-term impact of multiple intraocular injections of anti-VEGF on kidney function in diabetic patients, particularly looking at eGFR and urine ACR.
- Data from 85 patients revealed no significant association between the number of anti-VEGF injections and changes in kidney function markers over an average of 31 months.
- The researchers concluded that regular anti-VEGF treatment does not significantly affect kidney health in these patients, even with multiple injections.
Article Synopsis
- The study explores the link between dietary antioxidants in serum and kidney function, specifically measured by estimated glomerular filtration rate (eGFR), in a group of 570 individuals.
- It highlights that while many studies focus on advanced kidney disease, the relationship between these dietary antioxidants and kidney function has not been extensively researched, despite shared risk factors with cognitive decline.
- Key findings indicate that higher levels of the carotenoid lutein are positively associated with better kidney function, whereas retinol shows an inverse relationship; however, further research is needed to solidify these results.
Article Synopsis
- The study evaluated how dietary patterns (DP) affect the risk of age-related macular degeneration (AMD) in older women, using data from the Irish Nun Eye Study involving over 1,200 participants.
- Two main dietary patterns were identified: a 'healthy' pattern (rich in oily fish, whole grains, and fruits) and an 'unhealthy' pattern (high in fats and sugars).
- No significant link was found between either dietary pattern and AMD risk, suggesting the need for more research on dietary influences on AMD in broader populations.
Article Synopsis
- - A study conducted with 1033 older Irish women found that an unhealthy dietary pattern is linked to lower kidney function and higher risk of chronic kidney disease.
- - The research showed that those who followed an unhealthy diet had a mean reduction in kidney function of -6 ml/min/1.73 m compared to those on a healthier diet.
- - Interestingly, adherence to a healthy dietary pattern did not show any association with kidney function or chronic kidney disease in the study's adjusted analyses.
Article Synopsis
- The study aims to improve genetic diagnosis and treatment access for the estimated 5000 people in Ireland with inherited retinal degeneration (IRD).
- Researchers analyzed over 750 patients from 520 families, finding pathogenic mutations in 68% of pedigrees, and identified nearly 30 novel mutations, including three large structural variants.
- The project plans to enhance mutation detection rates by focusing on structural and non-coding variants, aiming for a better understanding of the genetic aspects of IRDs in Ireland.
Article Synopsis
- Oxidative stress is linked to Alzheimer's disease (AD), and this study explored the connection between serum levels of certain antioxidants and AD.
- Researchers analyzed serum concentrations of retinol, two types of vitamin E, and six carotenoids in 251 AD patients and 308 cognitively healthy individuals.
- Findings showed lower levels of α-tocopherol and carotenoids in AD patients, while γ-tocopherol levels were higher, suggesting a need for better understanding of antioxidants in diet and supplements for AD interventions.
Article Synopsis
- Alzheimer's disease (AD) is becoming more common worldwide and often develops for years before symptoms are evident; studies suggest that renal dysfunction and vascular issues may increase the risk of AD.
- The study aimed to compare the estimated glomerular filtration rate (eGFR) in people with AD versus cognitively normal individuals, while controlling for various factors like age and genetics.
- Results showed that, despite differences in demographics and health behaviors between the AD group and the controls, there was no significant link found between eGFR and the presence of AD.
Article Synopsis
- - The study investigates how immune cells, specifically peripheral blood mononuclear cells (PBMCs), release cytokines and chemokines in patients with neovascular age-related macular degeneration (nAMD) and how this relates to different clinical manifestations of the disease.
- - Involving 161 nAMD patients and 43 controls, researchers took blood samples to analyze cytokine expression after various stimulations, finding that nAMD patients had significantly higher levels of IL-8, CCL2, and VEGF compared to controls.
- - Results showed that the presence of specific clinical features influenced cytokine production; for instance, patients without macular fibrosis had increased IL-8 and CCL2, while those with macular at
Article Synopsis
- The study aimed to investigate the levels of complement proteins C3a, C4a, and C5a in various types of neovascular age-related macular degeneration (nAMD) and their relationship to patient responses to anti-VEGF therapy.
- A total of 96 nAMD patients, including different subtypes like choroidal neovascularization, were compared to 43 controls, with findings showing higher levels of these complement proteins in nAMD patients, especially in those with subretinal fibrosis.
- The results suggest that increased systemic complement activation is associated with choroidal neovascularization in nAMD and may be linked to the development of subretinal fibrosis and a partial response to anti-VEGF treatment.
Article Synopsis
- Advanced age-related macular degeneration (AMD) is a major cause of blindness in older adults, and current treatment options are limited.
- A study analyzed over 12 million genetic variants, finding 52 significant variants related to AMD in a large cohort of patients and controls.
- The research highlights shared genetic factors for both wet and dry AMD, identifies a unique genetic signal for wet AMD near the MMP9 gene, and emphasizes the importance of rare coding variants in discovering causal genes.
Retinal microvascular network attenuation in Alzheimer's disease.
Alzheimers Dement (Amst)
June 2015
Article Synopsis
- Cerebral small-vessel disease is linked to Alzheimer's disease (AD), and this study investigates retinal microvascular changes in AD patients compared to cognitively normal individuals.
- Researchers analyzed retinal images to measure parameters like caliber, fractal dimension, tortuosity, and bifurcation, using regression models to assess the relationship between these parameters and AD risk.
- The study found that lower venular fractal dimension and arteriolar tortuosity were associated with a higher likelihood of having AD, suggesting that changes in the retinal microvascular network may reflect similar issues in the brain's microvasculature.