12 results match your criteria: "St John of Jerusalem Eye Hospital Group[Affiliation]"
Prevalence of vision impairment, diabetic retinopathy and disability in adults 50+ in the occupied Palestinian territories.
PLOS Glob Public Health
September 2024
International Centre for Eye Health, London School of Hygiene & Tropical Medicine, London, England.
Article Synopsis
- The Rapid Assessment of Avoidable Blindness is a survey focused on vision impairment among people aged 50 and over in the occupied Palestinian territories (oPt), with findings from the first study in 2008 showing a 3.4% prevalence of blindness, predominantly avoidable.
- A follow-up survey conducted from July 2018 to April 2019 included 3,847 participants, revealing that 25.8% had some form of vision impairment, with high rates of avoidable causes contributing to blindness and various degrees of impairment.
- Diabetes prevalence was 33.8%, with about half of those affected also having diabetic retinopathy; the overall high prevalence of diabetes and disability among older adults underscores the need for
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
March 2024
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.
View Article and Find Full Text PDFDetailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Am J Ophthalmol
December 2023
From the Moorfields Eye Hospital (M.D.V., S.W.W., G.K., G.A., O.A.M., A.R.W., M.M.), London, UK; UCL Institute of Ophthalmology, University College London (M.D.V., G.A., O.A.M., A.R.W., M.M.), London, UK. Electronic address:
Purpose: To present the clinical characteristics, retinal features, natural history, and genetics of ADGRV1-Usher syndrome (USH).
Design: Multicenter international retrospective cohort study.
Methods: Clinical notes, hearing loss history, multimodal retinal imaging, and molecular diagnosis were reviewed.
Ocular Behçet Disease-Clinical Manifestations, Treatments and Outcomes According to Age at Disease Onset.
Biomedicines
February 2023
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
Behçet disease (BD) is a multisystemic disease that commonly involves the eyes. Although it affects patients in all age groups, data on ocular disease by age of onset are limited. This retrospective, multicenter study aimed to compare epidemiology, systemic and ocular manifestations, treatments and outcomes between three age groups: juvenile (<18 years), adult (18-39 years) and late (≥40 years) disease onset.
View Article and Find Full Text PDFRetinal vascular occlusions in ocular Behçet disease - a comparative analysis.
Acta Ophthalmol
September 2023
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Purpose: The literature on retinal vascular occlusions in Behçet disease (BD) patients is limited. The aim of this study is to thoroughly investigate retinal vascular occlusions among ocular BD patients.
Methods: Retrospective, multicentre case-control study.
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Am J Ophthalmol
February 2023
Moorfields Eye Hospital (M.D.V., M.G., K.F., S.K., O.A.M., A.G.R., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology, University College London (M.D.V., M.G., K.F., Y.F.-Y., O.A.M., A.G.R., A.R.W., M.M.), London, United Kingdom. Electronic address:
Purpose: To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.
Design: Multicenter international retrospective cohort study.
Methods: Review of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants.
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.
Invest Ophthalmol Vis Sci
April 2022
St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine.
Article Synopsis
- The study investigates the impact of a specific noncoding variant, c.859-25A>G, found in the ABCA4 gene, on retinal diseases like Stargardt disease (STGD) and cone-rod dystrophy (CRD) in Palestinian individuals.
- Researchers used sequencing, splice assays, and clinical assessments to understand how this variant affects mRNA splicing and the resulting eye health.
- The findings indicate that c.859-25A>G causes significant splicing defects leading to severe retinal conditions, making it a common genetic variant linked to inherited retinal diseases in the West Bank region.
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.
BMC Ophthalmol
July 2021
St. John of Jerusalem Eye Hospital Group, East Jerusalem, 91198, Palestine.
Background: Retinitis pigmentosa (RP) is a heterogeneous group of inherited ocular diseases that result in progressive retinal degeneration. This study aims to describe different Swept-source Optical Coherence Tomographic (SS-OCT) changes in Palestinian RP patients and to explore possible correlations with Visual Acuity (VA).
Methods: A cross-sectional observational study was conducted on Retinitis Pigmentosa patients diagnosed with RP in a tertiary eye hospital.
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Retina
October 2021
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Purpose: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome.
Methods: A retrospective study of patients with Senior-Løken syndrome. Data collected included clinical findings electroretinography and ocular imaging.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
July 2020
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Article Synopsis
- The study addresses the challenge of missing heritability in ABCA4-associated Stargardt disease (STGD1) by analyzing genomic variations in 1054 probands.
- Using a cost-effective sequencing method, researchers identified known and novel intronic variants and structural variants, leading to insights about potential causes of the disease.
- The findings revealed that 25% of biallelic STGD1 cases had identifiable genetic causes, demonstrating a model that could aid future research on other inherited diseases.
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
Sci Rep
August 2019
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, 91120, Israel.
Precise genetic and phenotypic characterization of congenital stationary night blindness (CSNB) patients is needed for future therapeutic interventions. The aim of this study was to estimate the prevalence of CSNB in our populations and to study clinical and genetic aspects of the autosomal recessive (AR) form of CSNB. This is a retrospective cohort study of Palestinian and Israeli CSNB patients harboring mutations in TRPM1 underwent comprehensive ocular examination.
View Article and Find Full Text PDFDesmoplastic Melanoma of the Periorbital Region.
Ophthalmic Plast Reconstr Surg
July 2018
Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, Department of Pathology, Department of Translational and Molecular Pathology, Department of Head and Neck Surgery, Department of Melanoma Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, U.S.A, and St. John of Jerusalem Eye Hospital Group, East Jerusalem, Israel.
Desmoplastic melanoma (DM) is a rare subtype of melanoma and an even smaller proportion of periocular melanomas. Here, the authors report 2 cases of DM in the periocular region. Staged according to the American Joint Committee on Cancer (AJCC) eighth edition classification, patient 1 presented with a stage IIIC (pT4apN1cM0) DM in the left lateral canthus with upper and lower eyelid and patient 2 presented with a stage IIIB (T4aN1bM0) DM in the left brow and supraorbital region with a parotid lymph node metastasis.
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