Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia.

Purpose: Friedreich ataxia (FDRA) is a debilitating neurodegenerative disease that can have ophthalmological manifestations including visual dysfunction, nystagmus, and optic atrophy. However, severe photophobia has not been reported nor evaluated with functional magnetic resonance imaging (fMRI).

Methods: A 64-year-old white female with a 37-year history of FDRA presented to the eye clinic with worsening photophobia of 3 years.

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia.

Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration of the retinal ganglion cell layer and optic nerve. Symptoms usually appear between the age of 18 and 35 years.

MOGAD: A comprehensive review of clinicoradiological features, therapy and outcomes in 4699 patients globally.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is one of the most common antibody-mediated CNS disorders. Optimal diagnostic and prognostic biomarkers remain unclear. Our aim was to clarify these biomarkers and therapeutic outcomes internationally.

Challenges in identifying papilledema amid myopic peripapillary atrophy in a patient with idiopathic intracranial hypertension and high myopia: a case report.

Background: Idiopathic intracranial hypertension (IIH) is a disease entity characterized by elevated intracranial pressure, which usually accompanied by papilledema. However, diagnosing papilledema can be challenging in patients with preexisting ocular conditions, such as high myopia.

Case Presentation: A 39-year-old woman with a long-standing history of high myopia presented with visual field constriction.

Clinical Profile of posterior segment in high Myopia.

Background: Myopia is a growing global health concern, with prevalence surging, especially in East and Southeast Asia. The World Health Organization identifies high myopia as -5.00 diopter or less, carrying an elevated risk of irreversible blindness.

Galloway-Mowat syndrome with retinal involvement associated with a novel variant: case report and review of the literature.

Introduction: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder classically characterized by central nervous system and renal abnormalities. Optic atrophy has been reported as a common ophthalmic feature, and other characteristics, including nystagmus, strabismus, oculomotor apraxia, and retinopathy have been reported; however, data on retinal involvement and dysfunction is limited. In this case report, we aim to describe retinal findings in a female adolescent diagnosed with GAMOS due to a homozygous variant in the gene.

[Brain magnetic resonance imaging features in Leber's hereditary optic neuropathy].

Leber's hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, characterized by the development of bilateral partial optic nerve atrophy. Modern neuroimaging technologies enable the acquisition of high-quality images, allowing for the evaluation of all structural components of the orbits, including the optic nerve. Consequently, the relevance of performing magnetic resonance imaging (MRI) in patients with LHON has increased.

Intravitreal Melphalan versus Topotecan for Vitreous Seeds in Retinoblastoma: A Comparative Study of 64 Asian Indian Eyes.

Purpose: To compare the outcomes of intravitreal melphalan (IVit-M) versus intravitreal topotecan (IVit-T) for vitreous seeds (VS) in retinoblastoma (RB).

Design: Retrospective interventional study.

Participants: Patients of RB with VS receiving intravitreal chemotherapy (IVit-C) between December 2012 and December 2022, at a single quaternary ocular oncology referral center.

Optic Neuropathy AFG3L2 Related in a Patient Affected by Congenital Stationary Night Blindness.

We describe a patient affected by congenital stationary night blindness (CSNB) secondary to CACNA1F and optic neuropathy associated with an AFG3L2 variant. We performed comprehensive neuro-ophthalmologic examinations, retinal imaging, complete ocular electrophysiology, and brain and optic nerve MRI. Genomic DNA was extracted from the peripheral blood.

Otitic hydrocephalus and papilloedema-re-evaluating a treatment paradigm.

Background: Otitic hydrocephalus is increased intracranial pressure without ventricular dilation secondary to mastoiditis and cerebral venous sinus thrombosis (CVST). It is associated with significant visual morbidity, though more detailed data on visual outcomes is lacking. We sought to better characterize the management of increased intracranial pressure and visual outcomes in this population.

Mutation of CRYAB encoding a conserved mitochondrial chaperone and anti-apoptotic protein causes hereditary optic atrophy.

The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown. Here, we identified a novel optic atrophy-causative CRYAB gene encoding a highly conserved major lens protein acting as mitochondrial chaperone and possessing anti-apoptotic activities.

The phenotypic spectrum of syndromic optic atrophy associated with variants in : with reclassification of p.Val606Gly as a likely benign variant.

Introduction: Wolfram syndrome due to bi-allelic variants in and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.

Methods: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and neuroimaging.

Automated measurement and correlation analysis of fundus tessellation and optic disc characteristics in myopia.

This study aims to quantify fundus tessellated (FT) density and optic disc (OD) morphology using deep learning (DL) techniques and to investigate the correlations between these fundus characteristics and refractive function in young patients with myopia. We constructed two DL-based segmentation models to delineate the FT, OD, peripapillary atrophy (PPA), and macula at a pixel-level resolution. The study sought to identify differences in fundus characteristics between eyes categorized as having high myopia versus mild or moderate myopia.

From Mild Cases to Critical Cases of COVID-19: The Role of Genes in Inflammasome and Mitochondrial Dynamics.

The coronavirus disease 2019 (CVOID-19) has varied clinical manifestations including mild to severe acute respiratory symptoms. Inflammasome complex and mitochondria play an important role in initiating inflammatory responses and could potentially be affected by this infection. To study the inflammasome and mitochondrial fission and fusion gene expression levels in COVID-19 patients, we designed this experiment.

Mitophagy drives maldifferentiation of tissue-resident memory T cells in patients with rheumatoid arthritis.

Objective: To investigate the function of mitophagy in instructing T-cell differentiation of patients with rheumatoid arthritis (RA).

Method: The mRNA and protein levels of optic atrophy protein-1 were detected in T cells from 94 RA patients and 37 age- and sex-matched healthy individuals by quantitative polymerase chain reaction and Western blotting. The impact of mitophagy on the differentiation of T cells was determined by flow cytometry.

Targeting NAMPT-OPA1 for treatment of senile osteoporosis.

Senescence of bone marrow mesenchymal stem cells (BMSCs) impairs their stemness and osteogenic differentiation, which is the principal cause of senile osteoporosis (SOP). Imbalances in nicotinamide phosphoribosyltransferase (NAMPT) homeostasis have been linked to aging and various diseases. Herein, reduction of NAMPT and impaired osteogenesis were observed in BMSCs from aged human and mouse.

Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.

Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management.

Magnetoencephalographic brain activity evoked by the optic-flow task is correlated with β-amyloid burden and parahippocampal atrophy.

Visuospatial perception is often impaired in people with Alzheimer's disease (AD). Because visuospatial information is thought to be processed in the visual dorsal stream, it is believed that brain activities in the dorsal stream will be altered in AD patients. In this study, we investigated whether regional brain activity related to visuospatial perception were associated with AD progression markers.

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.

Aims/hypothesis: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene's mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame variants.

TAp73 regulates mitochondrial dynamics and multiciliated cell homeostasis through an OPA1 axis.

Dysregulated mitochondrial fusion and fission has been implicated in the pathogenesis of numerous diseases. We have identified a novel function of the p53 family protein TAp73 in regulating mitochondrial dynamics. TAp73 regulates the expression of Optic Atrophy 1 (OPA1), a protein responsible for controlling mitochondrial fusion, cristae biogenesis and electron transport chain function.

Exploring subcortical pathology and processing speed in neuromyelitis optica spectrum disorder with myelin water imaging.

Background And Purpose: Neuromyelitis optica spectrum disorder (NMOSD) affects the optic nerves and spinal cord but can also cause focal brain inflammation. Subcortical pathology may contribute to the etiology of cognitive deficits in NMOSD. Using myelin water imaging, we investigated cerebral normal-appearing white matter (NAWM) and thalamic metrics and their association with cognition in NMOSD participants compared to healthy controls (HC).

Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.

Aims: The study aims to investigate whether WFS1 is involved in the regulation of the exportation and secretion of other peptide hormones, as well as to elucidate the precise molecular mechanisms underlying WS caused by pathogenic mutations in the WFS1 gene.

Materials And Methods: The plasma proteome from the WS patients (n = 2, male) and WFS1-deficient mice (n = 5, male) were analyzed using liquid-chromatography tandem mass spectrometry (LC-MS/MS), while age- and gender-matched healthy individuals and wildtype (WT) mice serve as controls. WFS1-deficient mice were intraperitoneally injected with IGF1 starting from 4 weeks of age.