Publications by authors named "Dinah Zur"

Background And Objectives: Susac syndrome (SuS) is a rare disorder characterized by encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss, often accompanied by vertigo. Recent updates to diagnostic criteria and treatment guidelines have been made. This study examines clinical manifestations; disease activity; and risk factors of disability, dependency, and return to work in patients with SuS.

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Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

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Article Synopsis
  • - The study investigates the characteristics of the vitreous in healthy children aged 2-12 using advanced imaging techniques, finding that punctate hyperreflective vitreous opacities (PHVO) are common in this age group.
  • - Among 154 pediatric eyes and 76 adult eyes analyzed, 100% of children presented with PHVO compared to 73% of adults, highlighting a significant difference in prevalence.
  • - Results suggest that understanding these typical vitreous features in children can improve the accuracy of OCT interpretations, reducing the risk of misdiagnoses in pediatric patients.
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Practice patterns for neovascular age-related macular degeneration (nAMD) have evolved from the landmark registration trials of vascular endothelial growth factor (VEGF) inhibitors. Non-monthly regimens like treat-and-extend (T&E) have become popular due to their effectiveness in clinical practice. T&E regimens attempt to limit the burden of visits and treatments by allowing progressively longer treatment intervals, but in so doing, are potentially associated with the expense of treating quiescent disease.

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Purpose: The approach to managing patients with retinal vein occlusion (RVO) and cystoid macular edema (CME) with good initial visual acuity (VA) better than 6/12 has not been investigated. This study aimed to evaluate functional and anatomical outcomes of intravitreal treatment and observation in patients with CME due to RVO, who presented with good initial VA. Methods: Multicenter retrospective cohort study.

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Purpose: To understand subfoveal neurosensory detachment flattening and observe (SNF-Ob) strategy and its relationship with visual acuity in the management of centre-involved diabetic macular oedema (Ci-DMO).

Methods: This was a multicentric retrospective observational study. We reviewed data of 188 eyes of 130 patients who presented with Ci-DMO with subfoveal neurosensory detachment (NSD) and treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF) agents or steroids.

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Treatment decisions for neovascular age-related macular degeneration (nAMD) in the setting of individualised treatment regimens are adapted to disease activity. The main marker of disease activity and trigger for re-treatment with anti-vascular endothelial growth factor (anti-VEGF) agents is the presence of retinal fluid on optical coherence tomography (OCT). Recently, attention has focused on the impact of residual retinal fluid on nAMD management.

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Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of cases.

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Article Synopsis
  • The study focuses on the ocular symptoms, treatments, and outcomes for patients with Oculopharyngeal Muscular Dystrophy (OPMD) using data from the Israel OPMD registry over a 15-month period.
  • Results showed that a significant number of the 30 patients studied, primarily of Bukhari descent, experienced issues like eye movement difficulties, ptosis, and diplopia, leading to multiple surgical interventions for some.
  • The findings highlight the importance of ongoing eye care for OPMD patients to manage serious ocular symptoms, ultimately aiming to enhance their quality of life and contribute to the existing knowledge on OPMD.
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  • The study aimed to gather nationwide data on the prevalence of 67 inherited retinal diseases (IRDs) in the Israeli population, as existing prevalence information is limited and can vary significantly.
  • Researchers collected data from 9,396 individuals diagnosed with IRDs through 10 clinical centers in Israel during May 2023, using specific diagnostic methods to ensure accuracy.
  • Results revealed that the most common IRD was retinitis pigmentosa (approx. 1 in 2,400), followed by other conditions like cone-rod dystrophy and Stargardt disease, with an overall prevalence of IRDs at about 1 in 1,043 individuals.
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Purpose: To report a case of non-arteritic anterior ischemic optic neuropathy (NAION) in an elderly patient with ischemia of the left splenium of the corpus callosum, providing details of the diagnostic work-up and subsequent follow-up.

Methods Section: Case report.

Results: A pseudophakic 80 years-old woman referred complaining sudden visual impairment in the left eye (LE) in concomitance with episode of hypertensive crisis.

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Purpose: To explore visual acuity (VA) outcomes of anti-vascular endothelial growth factor (VEGF) intravitreal injections in treatment-naive eyes with diabetic macular edema (DME), with bevacizumab as first-line treatment.

Methods: Retrospective single-center cohort study over a three-year follow-up. Overall, 1765 eyes from 1179 patients treated with intravitreal injections were evaluated.

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Article Synopsis
  • The study reviews disease-causing mutations in the BEST1 gene, correlates genotypes with phenotypes, and estimates the prevalence of Best disease in the Israeli population.
  • Over 134 patients from nine medical centers were analyzed, revealing a prevalence of 1 in 127,000, with higher rates among Arab Muslims compared to Jews.
  • Genetic testing is essential for diagnosing Best disease, as many mutations lead to autosomal-dominant inheritance and are concentrated in critical areas of the BEST1 protein that affect its normal function.*
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Geographic atrophy (GA) is an advanced and irreversible form of age-related macular degeneration (AMD). Chronic low grade inflammation is thought to act as an initiator of this degenerative process, resulting in loss of photoreceptors (PRs), retinal pigment epithelium (RPE) and the underlying choriocapillaris. This review examined the challenges of clinical trials to date which have sought to treat GA, with particular reference to the successful outcome of C3 complement inhibition.

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Article Synopsis
  • * Bi-allelic mutations in SAMD7 cause autosomal-recessive macular dystrophy, with some mutations impacting splicing and others affecting its role in repressing CRX-dependent gene activity.
  • * SAMD7 is found in the nuclei of retinal rod and cone cells, highlighting its important role in human retinal function and suggesting differences in the function of SAMD7 between humans and mice.
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Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management.

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This review covers advancements in geographic atrophy (GA) research. It discusses genetic contributions to AMD, explores treatment strategies, including complement inhibition, and highlights recent FDA approvals, safety concerns and promising future directions.

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Article Synopsis
  • The study examines gender differences in central serous chorioretinopathy (CSCR) using a new imaging classification, analyzing outcomes for males and females.
  • Findings show that males are more likely to have complex CSCR and experience more recurrences, while females tend to show a higher occurrence of choroidal neovascularization (CNVM).
  • Key predictors of better visual outcomes include a history of steroid use, initial visual acuity, and younger age, highlighting differences in CSCR manifestations between genders.
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Purpose: To investigate eyes with polypoidal lesions associated with choroidal nevi, their multimodal imaging characteristics, and long clinical follow-up.

Methods: Multicenter, retrospective case series study of patients with polypoidal lesions overlying choroidal nevi. Demographic and clinical information were recorded.

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Purpose: To describe the optical coherence tomography features of pachyvitelliform maculopathy (PVM), an acquired vitelliform lesion (AVL) associated with pachychoroid disease.

Methods: This study was a retrospective, multicentre, observational analysis.Medical records and multimodal imaging were reviewed in all patients with pachychoroid disease and AVL.

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Article Synopsis
  • * Data collected from 42 patients revealed that Stargardt disease and nonsyndromic retinitis pigmentosa were the most common IRDs, with autosomal recessive inheritance being the primary mode of transmission.
  • * The research identified 16 distinct IRD mutations, including nine novel ones, with one likely serving as a founder mutation, contributing valuable insights for future diagnosis and potential treatments for this community.
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Article Synopsis
  • * It analyzed data from 67 eyes of patients with CSCR, revealing that complex CSCR had worse visual outcomes, more treatment needs, and higher rates of recurrence compared to simple CSCR.
  • * The findings highlight that the disease progresses differently between simple and complex cases, showing an evolution in RPE alterations that correlates with visual acuity outcomes.
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Purpose: To investigate the association of nascent geographic atrophy (GA) preceding the development of exudative type 3 macular neovascularization (MNV) in patients with age-related macular degeneration (AMD).

Design: Retrospective longitudinal study.

Participants: Patients with AMD diagnosed with treatment-naive exudative type 3 MNV in 1 or both eyes were evaluated.

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