Frontiers in ophthalmology最新文献

Purpose: The study aims to understand the disease course of optic neuritis in the Indian population and analyze their demographic patterns, clinical features, and treatment responses over a period of two decades.

Methods: We retrospectively reviewed the medical records of patients with optic neuritis (ON) who presented to the neuro-ophthalmology clinic of a tertiary eye center between 1997 and 2017. Clinical profiles, neuroimaging features, and post-treatment visual outcomes were analyzed.

Results: A total of 406 eyes from 314 patients were included in this study. The mean age at presentation was 36.28 ± 12.58 years. Females were more commonly affected (N = 191patients, 60%). Unilateral involvement was noted in 70% (222 patients), and pain was associated with 63% (200 patients). The mean vision at presentation was 20/500 ± 20/158 (log MAR 1.39 ± 0.898). Optic disc edema was noted on presentation in 50% of patients (204 eyes). The mean vision post-treatment was 20/44 ± 20/91 (log MAR 0.34 ± 0.66). Recurrent optic neuritis was observed in 26.75% of patients (84 patients). Neuromyelitis optica antibody (NMO Ab) was positive in 19 patients, and myelin oligodendrocyte glycoprotein antibody (MOG Ab) was positive in one patient. Optic neuritis was of idiopathic etiology in 88.8% of patients, multiple sclerosis (MS) in 5.8%, and 4.8% had conversion to MS by 3years.

Conclusion: This ON study group of the Indian population had more optic disc edema on presentation and visual outcomes similar to those of other Asian studies, unlike ONTT. Idiopathic ON and neuromyelitis optica spectrum disorder-optic neuritis (NMOSD-ON) were more common than MS optic neuritis (MS-ON) in this cohort population. Prospective long-term follow-up of these patients can reveal the natural disease course, neurological associations, and treatment outcomes.

Background: Normative data on optic nerve head (ONH) topographic measurements are scarce among black people residing in Africa. Such measurements obtained with imaging modalities such as optical coherence tomography (OCT) are crucial for the diagnosis and management of optic nerve diseases, particularly glaucoma. They assist clinicians in identifying deviations that may indicate disease or abnormalities. The aim of this study was to determine normal reference values of ONH topographic measurements in a Congolese adult population using OCT.

Methods: Hospital-based cross-sectional observational study of 263 healthy adult subjects (18-76 years) who were scanned with a Topcon 3D OCT-2000 device using the optic disc scan pattern. The 2.5^th, 5^th, median, 95^th, and 97.5^th percentiles, and the mean of the optic disc area (ODA), optic disc vertical diameter (ODVD), optic disc horizontal diameter (ODHD), vertical cup-to-disc ratio (VCDR), area cup-to-disc ratio (ACDR), optic disc cup area (ODCA), and optic disc rim area (ODRA) were determined.

Results: The median (IQR) was 2.70 (0.92) mm² for ODA, 2.03 (0.32) mm for ODVD, 1.70 (0.5) mm for ODHD, 0.57 (0.20) for VCDR, 0.89 (0.81) mm² for ODCA, 1.74 (0.75) mm² for ODRA. The lower and upper limits of normality were 1.88 and 4.67 mm² (ODA), 1.64 and 2.64 mm (ODVD), 0.00 and 0.81 (VCDR), 0.00 and 2.60 mm² (ODCA), and 1.63 and 3.22 mm² (ODRA). For OCT classification, the range of 2.02-4.19 mm² was considered normal for ODA, 1.73-2.51 mm for ODVD, 0.23-0.76 for VCDR, 0.04-0.63 for ACDR, 0.11-2.33 mm² for ODCA, and 1.69-3.01 mm² for ODRA. ODRA was significantly larger in women than men. None of the optic disc parameters correlated with age.

Conclusion: This study provides population-specific normative data describing ONH morphology in healthy Congolese adults, addressing a critical gap for African populations that remain underrepresented in ocular imaging research. These ONH measurements were significantly greater than found in other populations. They may be used for diagnostic reliability and classification of Congolese subjects.

Background: Advanced neuroimaging use has increased in U.S. emergency departments (EDs), including for neuro-ophthalmic conditions requiring computed tomography (CT) or magnetic resonance imaging (MRI) and their use has shifted in recent years amid changing care patterns and the COVID-19 pandemic. To evaluate these changes, this study examined national trends of CT and MRI use for eye-related ED visits from 2016 to 2022.

Materials and methods: A retrospective trend study was conducted using 2016-2022 National Hospital Ambulatory Medical Care Survey (NHAMCS) data. Eye-related ED visits involving CT or MRI were identified using standardized diagnostic and procedure codes. Weighted national estimates were calculated, trends were assessed with Joinpoint regression to estimate average annual percent change (AAPC), and multivariable logistic regression identified patient- and hospital-level factors associated with imaging.

Results: From 2016 to 2022, eye-related ED visits totaled 42,151,975, involving 15,580,699 advanced imaging studies. Although the number of visits involving imaging remained stable, increasing by 0.8% [2,545,867 in 2016 to 2,566,826 in 2022; Average Annual Percent Change (AAPC): -0.1%], imaging rates per 1,000 visits climbed by 21.8% (AAPC: 3.1%). CT usage declined (2,445,326 in 2016 to 2,412,225 in 2022; AAPC: -1.3%), while MRI usage rose (332,588 in 2016 to 345,153 in 2022; AAPC: 1.0%). Younger age, race (particularly black patients), and Medicaid coverage were associated with reduced likelihood of imaging, while residence in the Midwest or South increased odds. Hospital admission remained the strongest predictor, tripling the likelihood of imaging. The COVID-19 pandemic drove a notable rise in imaging rates (from 34.9% before the pandemic to 40.1%; p=0.003).

Conclusion: Advanced imaging use during eye-related ED visits increased from 2016 to 2022 with a shift toward greater MRI utilization and stable CT usage. Demographic factors and the COVID-19 pandemic potentially contributed to these trends and observed racial disparities highlight potential systemic barriers to imaging access. Despite limitations related to hospital representation and data scope, these findings emphasize the need for further research to explore drivers of imaging use and address healthcare inequities.

Background: Fulminant papilledema is a neuro-ophthalmologic emergency that can lead to permanent vision loss as a result of optic neuropathy. Despite appropriate treatment of intracranial hypertension and improvement of papilledema, some patients continue to experience worsening vision. In some cases, comorbid micronutrient deficiencies, which are an additional cause of optic neuropathy, may contribute to this decline. This case series highlights patients with papilledema whose vision worsened despite improvement in papilledema and who were found to have comorbid nutritional deficiencies.

Methods: A retrospective case series of three patients with papilledema were seen between 2019 and 2022 at Washington University in St. Louis and Barnes-Jewish Hospital. All experienced continued vision loss despite successful treatment of intracranial hypertension and were subsequently also diagnosed with nutritional deficiencies. Data on Body Mass Index (BMI), visual acuity, papilledema grade, optical coherence tomography findings, visual fields, and treatment outcomes were analyzed.

Results: These three female patients had worsening vision despite medical and/or surgical treatment for intracranial hypertension. All were found to have comorbid nutritional deficiencies (thiamine, B12, folate, and/or copper). Following appropriate nutritional supplementation, none experienced continued worsening of their visual function.

Conclusions: Worsened vision loss despite papilledema resolution may occur in patients with comorbid nutritional deficiencies. Although we cannot prove a causative relationship with our case series, it may be worth considering screening for micronutrient deficiencies in at-risk patients, as these deficiencies can have visual consequences and are straightforward to treat.

High myopia (HM), defined as a spherical equivalent refractive error ≤ -5.00 or ≤ -6.00 diopters or axial length (AL) ≥ 26.0 mm, is a significant public health concern with a rapidly increasing prevalence, particularly in East Asia. Beyond impaired uncorrected vision, HM is associated with sight-threatening structural changes, including myopic maculopathy, choroidal neovascularization, retinal detachment, and glaucoma. The overlapping and atypical presentations of these complications pose considerable diagnostic challenges, often delaying intervention and complicating clinical management. This review synthesizes current knowledge on HM, emphasizing the spectrum of ocular complications and the multifaceted diagnostic dilemmas encountered. We have summarized the application of conventional and emerging diagnostic techniques-such as optical coherence tomography (OCT), ultra-widefield imaging, and fluorescein angiography in the diagnosis of high myopia and highlight the growing role of artificial intelligence (AI) and machine learning in enhancing diagnostic accuracy, particularly through the analysis of retinal images and OCT data. AI-based systems demonstrate high sensitivity and specificity in detecting HM-related pathologies, offering potential for large-scale screening and early intervention. Future directions include the development of integrated multimodal imaging platforms, genetic and metabolic biomarkers, and AI-driven predictive models to support personalized management strategies. This comprehensive overview underscores the need for advanced, accessible diagnostic tools to alleviate the burden associated with high myopia.

X-linked retinoschisis (XLRS) is an X-linked recessive inherited retinal disease caused by mutations in the RS1 gene. This case report describes the successful application of preimplantation genetic testing for monogenic diseases (PGT-M) to prevent the intergenerational transmission of a pathogenic RS1 variant within a family. Prior to PGT-M, the family had a male child with XLRS who experienced bilateral visual impairment and metamorphopsia at 4 years of age. we employed next-generation sequencing (NGS) to identify a single-nucleotide variant, c.187T>C (p. Cys63Arg; NM_000330.4), in RS1. Subsequently, we identified the mutation in the proband and his parents, which was confirmed by Sanger sequencing. In the PGT-M cycle, eight blastocysts were biopsied and analyzed using the "Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA)" platform. This involved whole-genome amplification via multiple annealing and looping-based amplification cycles (MALBAC), followed by next-generation sequencing for concurrent single-nucleotide polymorphism (SNP) haplotype analysis to track the mutant allele and comprehensive chromosomal copy number variation (CNV) screening. The analysis identified three euploid embryos (E1, E4 and E5) without the familial RS1 mutation. A high-quality embryo (E1, 6AA) was transferred following genetic counseling, resulting in a clinical pregnancy. Mid-trimester amniocentesis confirmed a normal male karyotype and the absence of the pathogenic RS1 variant, leading to the birth of a healthy baby. This case demonstrates that the integrated MARSALA-based PGT-M strategy is a powerful tool for families with X-linked disorders to conceive healthy offspring.

The retina, a crucial component of the human eye for vision, is responsible for converting light signals into neural signals that the brain can interpret. It's a complex tissue, rich in photoreceptors, and supported by various other cell types, including inner nuclear layer cells, ganglion cells, pigmented epithelial cells, immune cells, and vascular cells. Each of these cells plays a vital role in visual processing and understanding of their function and interactions are essential for assessing vision health and diagnosing diseases. Traditionally, studying the retinal cells has relied heavily on histological techniques, which, despite their utility, offer only static images and require invasive procedures that preclude the observation of dynamic biological processes. In this context, recent advancements of in vivo imaging technologies have marked a significant leap forward. Techniques such as ophthalmoscopy, optical coherence tomography (OCT), adaptive optics (AO), two-photon excitation microscopy (TPM), and light-sheet fluorescence microscopy (LSFM) now enable the direct observation of retinal cells in living organisms. This shift from invasive, static methods to dynamic, non-destructive imaging allows for a more nuanced understanding of retinal cell behavior under physiological conditions. It opens up new avenues for the study of the retina's complex ecosystem in both health and disease, facilitating early diagnosis of retinal conditions and offering new strategies for treatment. By offering a window into the live retina, in vivo imaging stands as a cornerstone of contemporary ophthalmology, promising to enhance our understanding of eye health and to spur innovations in the diagnosis and treatment of ocular diseases.

Purpose: To evaluate recurrence rates after surgical correction of ptosis in adults, with emphasis on differences between aponeurotic and non-aponeurotic etiologies, and to identify predictors of recurrence.

Methods: This retrospective, single-center cohort study included a series of patients undergoing ptosis surgery at single tertiary referral Oculoplastic Unit at University of Naples Federico II (2014-2024). Data collected included demographics, ptosis subtype, surgical technique, preoperative marginal reflex distance (MRD), levator function, systemic comorbidities, and latency to treatment. The primary outcome was recurrence of ptosis. Kaplan-Meier estimates and Cox proportional hazards models were used to evaluate recurrence-free survival and predictors of recurrence. Fisher's exact test assessed associations with comorbidities.

Results: A total of 122 patients (152 eyes) were included (mean age 59.7 ± 23.8 years; 54.6% male). The median follow-up was 165.1 weeks (IQR 67.0-330.6). Aponeurotic ptosis accounted for 50.7% of eyes, congenital for 30.3%, and myogenic for 18.4%. Levator repair was the most common surgical approach (78.9%). Recurrence occurred in 35 eyes (23.0%) during a median follow-up period of 165.1 weeks (IQR 67.0-330.6), Recurrence was significantly lower in aponeurotic vs non-aponeurotic ptosis (log-rank p = 0.048). In multivariable Cox analysis, non-aponeurotic ptosis was the only independent predictor of recurrence (HR 2.44, 95% CI: 1.13-5.28; p = 0.023). MRD, levator function, latency to treatment, and systemic comorbidities were not meaningfully associated with recurrence.

Conclusions: Ptosis recurrence after surgery was significantly less frequent in aponeurotic ptosis group compared to other forms. Etiology, rather than preoperative assessment measurements and surgical technique, was the primary determinant of long-term outcomes. These findings highlight the importance of etiology-driven surgical counseling and follow-up planning.

Introduction: Myasthenia gravis (MG) is an autoimmune disorder that can result in fluctuating muscle strength and various ocular manifestations. Common ocular signs and symptoms in MG patients include ptosis, limited eye movement, and diplopia.

Purpose: This study aimed to investigate the association between the clinical characteristics of MG, specifically the age of onset, and stereoacuity in MG patients.

Design: This was a cross-sectional study that enrolled 150 MG patients.

Methods: Stereoacuity was assessed using the Butterfly Stereo Acuity Test. Main analysis was conducted using multinomial logistic regression to explore the relative risk associated with different levels of stereoacuity.

Results: This study included 150 MG patients: 58 (38.7%) with normal stereoacuity, 80 (53.3%) with weak stereoacuity, and 12 (8%) unable to identify any stereo chart. Patients with MG onset before age 7 (n = 15) had a significantly higher risk of being unable to identify any stereo chart [relative risk ratio (RRR) = 14.73; p = 0.03]. Among ocular manifestations, ptosis (RRR = 2.33; p < 0.05) and diplopia (RRR = 2.26; p < 0.05) were associated with weak stereoacuity, whereas extraocular movement (EOM) disorder was significantly associated with being unable to identify any stereo chart (RRR = 10.57; p < 0.01).

Conclusion: Findings suggest that an early onset of MG may contribute to impaired stereoacuity. For patients diagnosed with MG before the age of 7, it is advisable to ensure optimal management of MG itself. Future studies should explore the potential long-term implications of early-onset MG on binocular vision, ophthalmoplegia, and the impact of ocular signs and symptoms on patients' quality of life.