Neurol Neuroimmunol Neuroinflamm
March 2025
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.
View Article and Find Full Text PDFHere 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.
View Article and Find Full Text PDFPractice 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.
View Article and Find Full Text PDFPurpose: 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.
View Article and Find Full Text PDFPurpose: 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.
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.
View Article and Find Full Text PDFRetinitis 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.
View Article and Find Full Text PDFPurpose: 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.
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.
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.
View Article and Find Full Text PDFIntraretinal 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.
View Article and Find Full Text PDFActa Ophthalmol
December 2023
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.
View Article and Find Full Text PDFPurpose: 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.
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.
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.