Neuro-Ophthalmology最新文献

Biallelic pathogenic variants in the SLC25A46 gene are responsible for various neurological syndromes, including Charcot-Marie-Tooth disease type 6B, pontocerebellar hypoplasia type 1E, Leigh syndrome, progressive myoclonic ataxia and Parkinson's disease, most of them being associated with optic atrophy. We here report the case of a 26-year-old female patient with a slowly progressive and apparently isolated form of optic neuropathy due to the NM_138773.4:c.[327-2A > T];[410A > G] compound heterozygous variants in this gene. The presence of a subclinical peripheral neuropathy revealed by electroneuromyography confirmed the responsibility of these SLC25A46 variants. The absence of functional and structural mitochondrial abnormalities in the patient's fibroblasts was consistent with the mild neurological phenotype. This case report suggests that SLC25A46 gene merit consideration during genetic testing for both syndromic and isolated optic neuropathies.

Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical coherence tomography (OCT)-verified ODD enrolled in a prior study (2017-2024) and consenting to recontact were invited to participate. Participants completed a National Eye Institute Visual Function Questionnaire-25 adapted for ODD (VFQ-25+), systematic OCT scan of the macula and optic nerve head, and a 30-degree automated perimetry. We included 118 patients (234 eyes). Comparing patients with bilateral superficial ODD (n = 46) to those with bilateral deep ODD (n = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, p = .94) or nyctalopia (78.3% vs. 61.5%, p = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, p = .06). Analyzing individual eyes, eyes with superficial ODD (n = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (p < .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (R = 0.75, p = 7.4e-26) compared to eyes with deep ODD (n = 97, R = 0.33, p = .0011). Although superficial ODD was associated with more pronounced declines in visual function, symptom reporting was consistent across ODD locations. Similar VFQ-25+ scores among different patient phenotypes suggest perimetric and retinal changes may not be readily perceived by patients.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune demyelinating disorder. In adults, optic neuritis (ON) is the most common clinical manifestation. MOGAD-ON can severely affect visual acuity (VA) and cause visual field (VF) deficits. VA typically improves rapidly with treatment, but little is known about VFs at follow-up. To address this, we analyzed VFs in MOG-ON patients. We conducted a multicentre international retrospective review of MOGAD-ON patients. VFs were obtained at presentation and follow-up at least 3 months later and before the next relapse. VF severity was based on the mean deviation (MD) measurements graded as mild, moderate, or severe. Specific VF deficit patterns and shapes were assessed by a single-blinded neuro-ophthalmologist (as per Optic-Neuritis-Treatment-Trial Group). Time to treatment was also assessed. Thirty-nine eyes of 28 patients were included (mean age 39.68 ± 12.9 years, 13 males). The average MD nadir from all 39 affected eyes was -14.18 (±9.8 dB) and -3.02 (±3.2 dB) at follow-up. At follow-up, 46% of the eyes developed permanent VF deficits with an MD below -2 dB. (41% with a recognizable VF deficit pattern) despite recovery to an average VA of 6/6. In contrast to visual acuity, visual fields showed poorer recovery with persistent deficits in MOGAD patients with optic neuritis despite treatment. An altitudinal VF defect in a patient with prior acute optic neuropathy with disc edema should not preclude the consideration of MGOAD as the diagnosis.

Methanol-induced optic neuropathy (MON) is a serious and potentially blinding condition with significant public health concerns. Despite advancements in treatment, predicting long-term visual outcomes of MON remain challenging. The current study aimed to assess the potential association between arterial blood gas parameters and long-term changes of retinal nerve fiber layer (RNFL) in survivors of acute methanol poisoning. This prospective study was conducted on patients hospitalized with diagnosis of acute methanol poisoning at Ali Asghar Hospital, Shiraz, Iran, between 27 June 2020 and 12 August 2021 in COVID-19 era. The treatment included acid-base correction, hemodialysis, ethanol administration, erythropoietin, corticosteroids, and vitamin supplementation. Clinical and laboratory as well as comprehensive ophthalmologic examinations and high-definition optical coherence tomography (OCT) were performed at admission and after a 12-month follow-up to evaluate RNFL thickness and visual acuity (VA) alternations. A total of 61 patients (mean age: 30.08 ± 5.20 years; 91.8% male) with methanol poisoning were included in the study. Optic disc swelling was noted in 29 patients (47.54%), while 32 (52.46%) had normal optic discs. Most patients presented on Day 2 (34.43%) and Day 1 (32.79%) post-poisoning. Arterial blood gas analysis revealed a median pH of 7.0 (IQR: 6.85-7.28), bicarbonate levels of 17.0 mmol/L (IQR: 13.0-23.0), and an anion gap of 12.0 mmol/L (IQR: 9.0-15.0). Initially, 67.2% of patients had a VA ≥ 5/10, increasing to 87.7% after one year, with none of the patients having VA worse than 1/10 at follow-up. The VA improvement was observed during the follow-up in both eyes (p < .001). Also, significant RNFL thinning was observed across superior, nasal, inferior, and temporal quadrants (p < .001). Lower arterial pH, decreased bicarbonate levels, and higher anion gap were significantly associated with RNFL thinning and worse visual outcomes (p < .001). This study revealed the crucial role of arterial pH, bicarbonate levels, and anion gap in predicting long-term visual impairment in patients with MON. Early erythropoietin and corticosteroids therapy showed promising neuroprotective effects, supporting their use in improving visual outcomes. OCT remains an essential tool for monitoring optic nerve damages in patients with MON.

Optic perineuritis (OPN) and optic nerve sheath meningioma (ONSM) can present overlapping clinical and MRI findings. We aim to identify reliable MRI features to accurately differentiate between the two, ensuring timely optimal management. Patients diagnosed with OPN or ONSM were retrospectively selected. Two board-certified neuroradiologists independently reviewed contrast-enhanced, fat-saturated T1-weighted orbital MRI. Masked to patient information, they assessed nerve sheath contrast enhancement across optic nerve segments, quadrants, and intraconal fat, and measured maximum enhancing thickness (MET) and maximum enhancing length (MEL). Subsequently, they provided diagnoses based on their expertise. In a second run, controls were included, and they were allowed to see MRI order notes. Inter-rater agreements and diagnostic performances were calculated. We studied 35 patients with 41 pathological orbits. OPN had more bilateral involvement (p = .012). Only MET reached the desired agreement (ICC = .902). Mean MET was 1 mm for OPN and 5.34 mm for ONSM (p < .001). AUC was 0.823 with optimal threshold of 1.38 mm, giving 75% sensitivity, 73.8% specificity, and 74.3% accuracy. In the first evaluation, neuroradiologists demonstrated sensitivities of 56.3% and 62.5%, specificities of 78.9%, accuracies of 68.6% and 71.4%. In the second evaluation, first neuroradiologist accurately identified 50% of ONSM and 80% of OPN cases. Second neuroradiologist identified 100% of ONSM and 50% of OPN. Both neuroradiologists identified all controls. Neuroradiologists struggled to distinguish OPN from ONSM. MET is reliable, accurate, and useful for differentiating them alongside clinical features.

Parkinson's disease is the second most common neurodegenerative condition in the world. Due to the absence of a single definitive diagnostic test, there has been increasing emphasis on identifying reliable biomarkers. This systematic review investigates the potential use of the retina as a biomarker for Parkinson's disease, with a focus on its utility for diagnosis, early detection, or monitoring disease progression. We conducted a comprehensive search using systematic review methodology and tools across multiple databases (PubMed, Embase via OVID and Cochrane), limiting publications to the last five years, in the English language, and to human studies. Of the 13 studies submitted to critical appraisal after systematic filtering, 11 used optical coherence tomography (OCT), 4 used optical coherence tomography angiography (OCT-A), 3 used contrast sensitivity, 7 used best corrected visual acuity (BCVA), 2 used electroretinography (ERG), and 2 visually evoked potential (VEP) to compare between Parkinson's disease patients and healthy controls. The results varied across different techniques, with OCT and OCT-A showing inconsistent statistical significance in multiple studies. Contrast sensitivity demonstrated statistical significance, while BCVA showed no significant difference. ERG and VEP each exhibited some degree of statistical significance. Among the techniques, contrast sensitivity, ERG, VEP, and vessel density (measured with OCT-A) showed the most consistent statistical significance as potential biomarkers. These findings provide early evidence supporting the retina's potential as a biomarker for Parkinson's disease.

Optic neuritis (ON) and neuromyelitis optica spectrum disorder (NMOSD) lead to demyelinating neuropathy of the optic nerve. The prevalence of this condition has been shown to vary depending on where it is studied. This research aims to describe the demographic characteristics of optic neuritis in Colombia from 2015 to 2021. This is a descriptive cross-sectional study, collecting data from the Integrated Social Protection Information System (SISPRO). This data included diagnostic codes according to the International Statistical Classification of Diseases (ICD-10) for distinct types of optic neuritis from January 1, 2015, to December 31, 2021. We conducted descriptive analyses to delineate the geographical patterns, age demographics, gender distribution and sought to estimate the prevalence of optic neuritis within Colombia during the specified timeframe. We identified a total of 22,525 patients: 6,336 (28.12%) with a diagnosis of NMOSD and 16,189 (71.88%) with a diagnosis of optic ON. The incidence of ON and NMOSD was 7.29 and 2.05 cases per 100 individuals, respectively. The mean age for NMOSD was 45 years and for ON was 44 years. 78.5% of NMOSD patients were female, with a higher prevalence in the departments of Risaralda, Sucre, and Bogotá. For ON, 64.1% of patients were female, with a higher prevalence in Antioquia, Sucre, and Tolima. This is the first epidemiological study of ON and NMOSD conducted in Colombia. The identified prevalence situates the country in the higher range of disease occurrence. Diagnoses are more frequently made in regions with a larger Caucasian population.

Disulfiram is a known cause of toxic optic neuropathy (ON), although there are few cases reported in literature. Our objective is to describe a series of patients with disulfiram-associated ON, and compare them with patients with alcohol-tobacco induced ON. We performed a retrospective cohort of patients with toxic ON, either disulfiram-associated or alcohol-tobacco induced (follow-up: 12 months). Data were extracted from a Spanish tertiary hospital, between 2018 and 2024. Visual acuity (VA) and papillary optic coherence tomography (OCT) were performed at baseline and during the follow-up. A statistical analysis was done, including, Chi-square, Fisher's exact, Mann-Whitney U, and Spearman R tests. Eighteen patients were analyzed (17 males). The mean age of onset was 51.1 years. Seven patients were in active treatment with disulfiram at symptom onset (mean dose received: 204 g). Patients with active disulfiram use had a lower baseline VA (20/77 vs 20/50, p = .049), but this difference equalized at 12 months. Patients that received more than 200 g had a tendency to have a dose-dependent effect (p = .056). Initiation of vitamin therapy suggested a tendency toward visual improvement, whereas cessation of alcohol and withdrawal of disulfiram did not reach statistical significance. Patients with diabetes mellitus did not improve their VA (p = .008). No significant differences in OCT findings were observed between patients with active disulfiram and the rest of patients. In conclusion, most patients with disulfiram-associated ON occurred on middle-age males. Toxicity of disulfiram is probably dose-dependent, and partially reversible after withdrawal. Initiation of vitamin therapy was linked to better visual prognosis.

Paediatric IIH is a rare condition in children where prepubertal and post-pubertal disease appear distinct. There are major gaps in the literature regarding if these populations have different treatments, visual outcomes, or recurrence rates. The purpose of this study was to characterize the differences in prepubertal/post-pubertal disease while analysing the risk of papilloedema recurrence. Records at a single tertiary institution were screened between 1 June 2012 and September, 2023 for having an ICD code of IIH or papilloedema. All patients were between the ages of 0-18 and stratified by pubertal status. Patients met the revised Dandy diagnostic criteria and secondary causes of IIH were excluded. Demographics, treatment, and visual outcomes data was collected at baseline and 1 year after diagnosis. The incidence of papilloedema resolution and recurrence were collected. All data analysis was performed in R Studio and Excel with a p value of < .05 being significant. Of the 719 IIH patients, 128 (17%) were paediatric with 79 (62%) post-pubertal and 49 (38%) prepubertal at diagnosis. A higher percentage of post-pubertal patients were overweight/obese (77.2%) and female (77%) compared to prepubertal patients (p < .05). Overall, 6 (4.7%) patients had a poor visual outcome; however, this did not differ regarding pubertal status (p > .05). Papilloedema recurrence occurred in 24% of the population. There was no difference in recurrence rates between prepubertal and post-pubertal patients (p > .05). Although post-pubertal and prepubertal disease may differ in demographics and presenting features, there was no significant difference in visual outcomes and recurrence rates.