Clinical optic

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy...

Filariasis, a neglected tropical disease caused by roundworms, is a significant public health concern in many tropical countries. Microscopic examination of blood samples can detect and differentiate parasite species, but it is time consuming and requires expert microscopists, a resource that is not always available. In this context, artificial intelligence (AI) can assist in the diagnosis of this disease by automatically detecting and differentiating microfilariae. In line with the target product profile for lymphatic filariasis as defined by the World Health Organization, we developed an edge AI system running on a smartphone whose camera is aligned with the ocular of an optical microscope that detects and differentiates filarias species in real time without the internet connection...

PURPOSE: Fluorescence lifetime ophthalmoscopy (FLIO) is an emerging clinical modality that could provide biomarkers of retinal health beyond fluorescence intensity. Adaptive optics (AO) ophthalmoscopy provides the confocality to measure fluorescence lifetime (FL) primarily from the retinal pigment epithelium (RPE) whereas clinical FLIO has greater influence from fluorophores in the inner retina and lens. Adaptive optics fluorescence lifetime ophthalmoscopy (AOFLIO) measures of FL in vivo could provide insight into RPE health at different stages of disease...

PURPOSE: The purpose of this study was to investigate structure-function correlations in multiple evanescent white dot syndrome (MEWDS) using microperimetry (MP) and spectral-domain optical coherence tomography (SD-OCT). METHODS: Single-center prospective observational study including 14 eyes from 13 patients with MEWDS monitored over a median of 49.5 days (interquartile range = 29-92 days). Investigations focused on best-corrected visual acuity (BCVA), foveal granularity, and the Photoreceptor Reflectivity Ratio (PRR) as a measure of photoreceptor integrity...

Trace elements are essential micronutrients for the human body. Their roles are indispensable, as they are involved in a wide range of vital biological processes. In this study, we aimed to evaluate alterations in trace elements in the blood and bone marrow serum of patients with newly diagnosed multiple myeloma (NMM). The levels of zinc (Zn), copper (Cu), iron (Fe), manganese (Mn), magnesium (Mg), selenium (Se), arsenic (As), boron (B), nickel (Ni), silicon (Si) and chromium (Cr) were analyzed in the venous blood samples of the patient group comprising 70 patients with NMM (41 males and 29 females) and compared to those in the control group comprising 30 individuals (18 males and 12 females)...

PURPOSE: To analyze the efficacy, safety and cost-effectiveness of adjuvant therapy with 5-fluorouracil (5-FU) compared to interferon α-2b (IFNα-2b) after surgery in ocular surface squamous neoplasia (OSSN). METHODS: Retrospective study that included patients diagnosed with OSSN, who underwent surgical excision followed by adjuvant therapy with IFN α-2b (Group A) or 5-FU (Group B), in a tertial referral hospital. Clinical data collected included: demographics, risk factors, appearance, size and location of the lesions, slit-lamp examination, anterior segment optical coherence tomography, iconography and histological classification of subtypes of OSSN...

PURPOSE: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. OBSERVATIONS: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years...

People living with HIV (PLWH) may face an increased risk of eye complications associated with ageing, chronic inflammation, and the toxicity arising from long-term antiretroviral therapy (ART). This review aims to understand how inflammatory pathways contribute to retinal alterations observed in PLWH on long-term ART. This review was conducted using four electronic database searches, namely Scopus, Hinari, Google Scholar, and PubMed; from 1996 (when ART became available) until January 2022, without language restriction...

PURPOSE: The variations in the diameter of the optic nerve (ON) are important clinically in the diagnosis of conditions associated with the ON such as raised intracranial pressure, meningioma, optic neuritis, and Grave's orbitopathy. This study determined the normal diameters of the ON in adult Nigerians seen in a Hospital in Delta State. METHODS: Axial T1-weighted brain magnetic resonance imaging images of 150 patients (75 males and 75 females) aged ≥20 years were retrieved from the hospital's radiological database and retrospectively used to evaluate the diameter of the ON on axial and coronal sections...

PURPOSE: The purpose of this study is to evaluate the visual response of methanol-induced optic neuropathy to management with erythropoietin (EPO) along with conventional therapy. METHODS: This retrospective case series examines the ophthalmological data of patients diagnosed with methanol-induced optic neuropathy between 2020 and 2021 at two centers, Riyadh, Saudi Arabia. Patients' characteristics and the results of initial and final ophthalmological examinations were documented and compared between patients who received EPO in addition to conventional management and those who received only conventional management...

INTRODUCTION: Retinal folds (RFs) may develop following rhegmatogenous retinal detachment (RRD) repair, though it consists an uncommon complication. CASE PRESENTATION: Herein, we present a case of late-onset postoperative outer RFs with aggravating characteristics following vitrectomy with silicone oil (SO) tamponade for RRD repair; early clinical findings, complications, anatomical and functional status during a 12-month follow-up period are described. Retinal imaging by acquiring optical coherence tomography scans and angiograms indicates detailed morphological and angiographic characteristics of the evolution of RFs over time...

BACKGROUND AND PURPOSE: Cryopyrin-associated periodic syndrome is a rare autoinflammatory disease caused by gain-of-function mutations or variants in the NLRP3 gene. Clinically, patients suffer from a broad spectrum of both systemic and neurological symptoms. The aim of this study was to determine whether systemic inflammation demonstrated by serum amyloid A (SAA) elevation is associated with neuroinflammation assessed by optical coherence tomography (OCT). METHODS: Thirty eyes of 15 patients with NLRP3 low penetrance mutations (PwNLRP3) and 20 eyes of 10 age- and sex-matched healthy controls were examined by spectral-domain OCT as part of routine clinical care...

BACKGROUND: Mitochondria are essential organelles involved in cellular energy production. Changes in mitochondrial function can lead to dysfunction and cell death in aging and age-related disorders. Recent research suggests that mitochondrial dysfunction is closely linked to neurodegenerative diseases. Glucagon-like peptide-1 receptor (GLP-1R) agonist has gained interest as a potential treatment for Parkinson's disease (PD). However, the exact mechanisms responsible for the therapeutic effects of GLP-1R-related agonists are not yet fully understood...

BACKGROUND: Suture knotting is the basis of surgical skills. In the process of surgical skills learning, the surrounding environment, especially the light, will affect the efficiency of learning. This study investigated the effect of optical environment on the learning of stitching and knotting skills. METHODS: A total of 44 medical students were randomly divided into four groups and participated in the study of suture knotting in four different optical environments...

BACKGROUND: Diabetic macular edema (DME) is a leading cause of vision loss in patients with diabetes. This study aimed to develop and evaluate an OCT-omics prediction model for assessing anti-vascular endothelial growth factor (VEGF) treatment response in patients with DME. METHODS: A retrospective analysis of 113 eyes from 82 patients with DME was conducted. Comprehensive feature engineering was applied to clinical and optical coherence tomography (OCT) data. Logistic regression, support vector machine (SVM), and backpropagation neural network (BPNN) classifiers were trained using a training set of 79 eyes, and evaluated on a test set of 34 eyes...

Overly dense microvascular networks are treated by selective reduction of vascular elements. Inappropriate manipulation of microvessels could result in loss of host tissue function or a worsening of the clinical problem. Here, experimental, and computational models were developed to induce blood flow changes via selective artery and vein laser ablation and study the compensatory collateral flow redistribution and vessel diameter remodeling. The microvasculature was imaged non-invasively by bright-field and multi-photon laser microscopy, and optical coherence tomography pre-ablation and up to 30 days post-ablation...

BACKGROUND AND PURPOSE: There is increasing evidence that the anterior visual pathways are involved in neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD). This study investigated longitudinal changes in retinal nerve fiber layer (RNFL) thickness in patients with ALS and PD with the aim of better understanding their roles as biomarkers of disease progression. METHODS: This study recruited 21 ALS patients, 19 age-matched PD patients, and 21 agematched healthy controls...

BACKGROUND AND PURPOSE: Giant-cell arteritis (GCA) is the most common type of vasculitis in the elderly and is associated with high risks of visual loss and recurrence. Owing to its rarity in Asian populations, the current clinical interventions for these patients are not well known. Here we aimed to characterize the current management status of patients with GCA using Korean multicenter data. METHODS: This retrospective study analyzed medical records of patients with GCA at six Korean university hospitals from February 2009 to November 2022...

Microscopes, more than any other instrument, reflect advances in clinical medicine over the past several hundred years. As the primary tool of the pathologist, they were, and continue to be, a key connector between the bedside and basic sciences. One specific example is the science of clinical dermatology, which relies on clinical-pathologic correlation to make a definitive diagnosis. The microscopes used by pathologists, however, are more than scientific artifacts. Many antique microscopes are hand-crafted works of art...

CLINICAL RELEVANCE: Tear meniscus height (TMH) is an important clinical marker in dry eye diagnosis and management. PURPOSE: To evaluate the reproducibility and agreement of TMH measurements in non-clinical participants using the Oculus Keratograph 5 M, Medmont Meridia, and Spectral-domain optical coherence tomography (Spectralis SD-OCT). METHODS: Fifty-six participants (mean 43.8 ± 22.4 years) were recruited for this cross-sectional study...