Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.

Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.

Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment.

Learning curves of novice residents on cataract surgery simulator: the E3CAPS pedagogic study.

Introduction: Training novice ophthalmology residents on the EyeSi simulator increases cataract surgery safety. However, there is no consensus regarding how much training residents should perform before their first time on patients. We evaluated the French national training program through the analysis of the learning curves of novice residents.

[Ophthalmological traits in older adult and risk of Alzheimer's disease: results from a French geriatric cohort].

Ophthalmological changes have been reported in Alzheimer's patients. Our objectives were to determine whether: i) GCC (ganglion cell complex) and RNFL (retinal nerve fibre layer) thickness were associated with different stages of AD (i.e.

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

Background: The pathophysiology of toxico-nutritional optic neuropathies remains debated, with no clear understanding of the respective roles played by the direct alcohol toxicity, smoking and the often associated vitamin deficiencies, which are risk factors for optic neuropathy. Our aim was to investigate genetic susceptibility in patients with bilateral infraclinical optic neuropathy associated with chronic alcohol use disorder.

Methods: This retrospective cohort study included 102 visually asymptomatic patients with documented alcohol use disorder from a French reference center.

[The clinical pharmacist, an essential element in the new gradation of care for ambulatory patients].

Objective: Pharmaceutical presence in oncology allows the clinical pharmacist to integrate tripartite consultations for primary prescription of oral anticancer drugs. The aim of the study is to describe the deployment of the clinical pharmacy activity in 2 oncology departments since its implementation in 2019, to assess the financial gain of the pharmaceutical interventions through the new gradation of outpatient management published on September 10, 2020, and finally to assess their satisfaction following the deployment of this pathway.

Method: A retrospective study was conducted to collect pricing data for oral therapy interviews in patients between January 2019 and December 2022.

Outcomes of targeted treatment in immunocompromised patients with asymptomatic or mild COVID-19: a retrospective study.

The aim of this study was to describe the outcomes of targeted COVID-19 treatments in immunocompromised patients with asymptomatic or mild COVID-19 during the period of expansion of the different Omicron subvariants in France. A retrospective monocentric observational study was performed. All immunocompromised patients aged 18 or more, with asymptomatic SARS-CoV-2 infection or mild COVID-19, and who had received a targeted treatment with sotrovimab, tixagevimab/cilgavimab, nirmatrelvir/ritonavir or remdesivir at the Bordeaux University Hospital from 1st January 2022 to 31st December 2022 were eligible.

Educational Concerns About the Safety of Cataract Surgery During Residency: The E3CAPS Pedagogic Study.

Introduction: Cataract surgery is the most common surgical procedure performed in France. While the incidence of intraoperative complications affecting visual prognosis is extremely low, given the large number of patients operated on, the absolute number of patients affected by complications is quite high. Complication rates are significantly higher when ophthalmology residents (ORs) perform the surgery.

Hospital Production of Sterile 2% Propofol Nanoemulsion: Proof of Concept.

In the context of essential drug shortages, this article reports a proof of concept for the hospital preparation of a 2% propofol injectable nanoemulsion. Two processes for propofol were assessed: mixing propofol with the commercial Intralipid 20% emulsion and a "de novo" process performed using separate raw materials (i.e.

Retinal vessels as a window on amyotrophic lateral sclerosis pathophysiology: A systematic review.

Amyotrophic lateral sclerosis (ALS) is a rare fatal motor neuron disease. Although many potential mechanisms have been proposed, the pathophysiology of the disease remains unknown. Currently available treatments can only delay the progression of the disease and prolong life expectancy by a few months.

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropathy mutations testing with the exon sequencing of 87 nuclear genes on 2186 patients referred for suspected hereditary optic neuropathies. The positive diagnosis rate in individuals referred for Leber hereditary optic neuropathy testing was 18% (199/1126 index cases), with 92% (184/199) carrying one of the three main pathogenic variants of mitochondrial DNA (m.

Treatment of nonarteritic anterior ischemic optic neuropathy with an endothelin antagonist: ENDOTHELION (ENDOTHELin antagonist receptor in Ischemic Optic Neuropathy)-a multicentre randomised controlled trial protocol.

Background: Nonarteritic anterior ischemic optic neuropathy (NAAION) is a major cause of blindness in individuals over 50 years of age, with no available effective treatment. The oral dual endothelin receptor antagonist, bosentan, increases retinal optic nerve head blood flow in healthy humans and glaucoma patients. The objective of this trial is to assess the efficacy of bosentan administered at the acute stage in improving outcomes in NAAION patients.

A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated Orbitopathy.

About half of patients with Graves' disease develop an orbitopathy related to an inflammatory expansion of the periorbital adipose tissue and muscles. We used a targeted metabolomic approach measuring 188 metabolites by mass spectrometry to compare the metabolic composition of tears in patients with active ( = 21) versus inactive ( = 24) thyroid-associated orbitopathy. Among the 44 metabolites accurately measured, 8 showed a significant alteration of their concentrations between the two groups.

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability, but with a clinical presentation which appears to be multifaceted. We created the first public locus-specific database dedicated to NR2F1. All variants and clinical cases reported in the literature, as well as new unpublished cases, were integrated into the database using standard nomenclature to describe both molecular and phenotypic anomalies.

ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first public locus-specific database (LSDB) dedicated to ACO2 within the "Global Variome shared LOVD" using exclusively the Human Phenotype Ontology (HPO), a standard vocabulary for describing phenotypic abnormalities. All the variants and clinical cases listed in the literature were incorporated into the database, from which we produced a dataset.

Tear metabolomics highlights new potential biomarkers for differentiating between Sjögren's syndrome and other causes of dry eye.

Purpose: The lacrimal exocrinopathy of primary Sjögren's syndrome (pSS) is one of the main causes of severe dry eye syndrome and a burden for patients. Early recognition and treatment could prevent irreversible damage to lacrimal glands. The aim of this study was to find biomarkers in tears, using metabolomics and data mining approaches, in patients with newly-diagnosed pSS compared to other causes of dry eye syndrome.

Dominant mutations are a frequent cause of isolated optic atrophy.

Biallelic mutations in , encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration and recessive optic neuropathies (locus OPA9). By screening European cohorts of individuals with genetically unsolved inherited optic neuropathies, we identified 61 cases harbouring variants in , among whom 50 carried dominant mutations, emphasizing for the first time the important contribution of monoallelic pathogenic variants to dominant optic atrophy. Analysis of the ophthalmological and clinical data revealed that recessive cases are affected more severely than dominant cases, while not significantly earlier.

Agents Involved and Severity of Acute Ocular Exposure Reported at a Poison Control Center.

Purpose: The aim was to identify severity factors useful in the initial management of patients with acute ocular exposure while considering both categories of products involved and circumstances of exposure.

Methods: A retrospective study over a one-year period that included patients who benefited from the poison center services for eye exposure to a chemical substance.

Results: Within a year, 1582 patients were identified.

Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.

Background: Nonophthalmologist physicians do not confidently perform direct ophthalmoscopy. The use of artificial intelligence to detect papilledema and other optic-disk abnormalities from fundus photographs has not been well studied.

Methods: We trained, validated, and externally tested a deep-learning system to classify optic disks as being normal or having papilledema or other abnormalities from 15,846 retrospectively collected ocular fundus photographs that had been obtained with pharmacologic pupillary dilation and various digital cameras in persons from multiple ethnic populations.

A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.

To determine the plasma metabolomic profile of exudative age-related macular degeneration (AMD), we performed a targeted metabolomics study on the plasma from patients ( = 40, mean age = 81.1) compared to an age- and sex-matched control group ( = 40, mean age = 81.8).

A Data Mining Metabolomics Exploration of Glaucoma.

Glaucoma is an age related disease characterized by the progressive loss of retinal ganglion cells, which are the neurons that transduce the visual information from the retina to the brain. It is the leading cause of irreversible blindness worldwide. To gain further insights into primary open-angle glaucoma (POAG) pathophysiology, we performed a non-targeted metabolomics analysis on the plasma from POAG patients ( = 34) and age- and sex-matched controls ( = 30).