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To evaluate the predictive and prognostic value of fibroblast growth factor 21 (FGF21) levels in retinal artery occlusion (RAO) patients. In this case–control study, serum FGF21 levels were detected by using the ELISA method. Multivariable logistic regression analyses were performed to evaluate the significance of FGF21 in assessing the risk of developing RAO and its impact on vision and concurrent ischemic stroke. Compared with control group, serum FGF21 levels were significantly higher (median [IQR] = 230.90[167.40,332.20] pg/ml) in RAO patients. Multivariate logistic regression analysis showed that elevated serum FGF21 levels were associated with a higher risk of RAO occurrence ( P  = 0.025, OR [95%CI] = 9.672 [2.573, 36.359]) after adjustment for multiple confounding factors. Higher serum FGF21 levels were negatively associated with visual acuity improvement ( P  = 0.029, OR [95%CI] = 0.466[0.235, 0.925]) and positively correlated with concurrent ischemic stroke ( P  = 0.04, OR [95% CI] = 1.944[1.029, 3.672]) in RAO patients. Elevated serum FGF21 levels could promote the development of RAO and indicate worse visual prognosis and increase the risk of concurrent ischemic stroke, which might help clinicians early diagnose and treat RAO patients.

We conducted a systematic review and meta-analysis to determine the effectiveness and safety of anti-tumor necrosis factor-alpha (TNF-α) agents in the treatment of Behcets' disease (BD)-associated uveitis. Three electronic databases, Embase, MEDLINE, and the Cochrane Library, were searched for eligible papers focusing on the anti-TNF-α agents treatment in BD-associated uveitis with at least 6 months follow-up time. A systematic review and meta-analysis was conducted on selected papers with appropriate clinical and methodological homogeneity. The effectiveness outcomes included inflammation remission, visual acuity (VA) improvement, central macular thickness (CMT) decrease, corticosteroid (CS)-sparing effects, and the safety outcomes included minor and severe drug-related adverse events (AEs). From Jan 2010 to Dec 2019, there were 504 records produced in total, in which 18 clinical trials were selected for meta-analysis (15 trials were retrospective studies, and 3 were prospective studies). The number of patients in each study ranged from 11 to 163 and the mean follow-up time from 0.9 to 6.44 years. During the follow-up, the pooled inflammation remission rate was 68% with a 95% confidence interval (CI) of 0.59-0.79, VA improvement rate was 60% (95% CI 0.47-0.77), CMT decrease was 112.70 μm (95% CI 72.8-153.0 μm). The proportions of patients who had CS-suspended and CS-tapered reached 38% (95% CI 0.23-0.65) and 34% (95% CI 0.16-0.70), respectively. The severe AEs were reported but not common, which included severe infusion reactions, pneumonia, bacteremia, tuberculosis, melanoma, and lymphoma. Anti-TNF-α agents treatment has high effectiveness including efficient inflammation remission, satisfactory VA improvement, obvious CMT reduction, and significant CS-sparing effects. Although some drug-related AEs were reported, the incidence of severe AEs was acceptable. Anti-TNF-α agents treatment is a promising option for controlling BD-associated uveitis.

Background: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral examples, or those in which the delay of onset of vision loss between one and the other eye is longer. In the case of presumed childhood amblyopia in one eye, vision loss in the good eye may be the only symptom of bilateral disease, which was unnoticed in the previously amblyopic eye, or a preexisting episode of LHON in the “amblyopic” eye. The clinical decision in such cases may be difficult and suggestive of other forms of atypical optic neuropathy until confirmed by genetic testing. Case series: We present three genetically confirmed (MT-ND1:m.3700G>A, MT-ND6:m14484 T>C, and MT-ND4:m.11778G>A) patients with subacute vision loss in the previously good eye, with the other eye believed to be amblyopic from childhood and their features different from what would be expected in true amblyopia. In all, electrophysiology testing showed a bilaterally reduced amplitude of PERG with low VEP P100 wave amplitudes and prolonged peak time in both eyes, also unusual for amblyopia. During follow-up, the pallor of the optic discs progressed in all eyes. Significant thinning of the peripapillary retinal nerve fiber layer (pRNFL; retinal nerve fiber layer around the optic disc) and ganglion cell complex (GCC) in the macular region was present. All three patients had a peculiar history. The first patient was treated for presumed hyperopic amblyopia that did not improve since childhood, experienced visual loss in the good eye at the age of 17, and was negative for the three typical LHON mutations. Extended testing confirmed an atypical pathogenic variant MT-ND1:m.3700G>A in homoplasmy. The second patient with presumed strabismic amblyopia had an unusual presentation of vision loss only at the age of 61, and after the exclusion of other causes, a typical MT-ND4:m.11778G>A pathogenic variant was found in homoplasmy. The third case was peculiar as he had presumed strabismic amblyopia since childhood and had some degree of disc pallor in the amblyopic eye upon presenting with loss of vision in the good eye at the age of 21, and a typical pathogenic variant m14484 T>C, p.Met64Val was subsequently confirmed. However, one year after disease onset, he started to experience significant spontaneous functional improvement in the non-amblyopic up to 1.0 Snellen whilst improvement in the presumed amblyopic eye was modest, suggesting preexisting amblyopia. This interestingly extensive improvement was carefully followed by electrophysiology as well as visual acuity and fields. Conclusions: This report shows three different scenarios of presentation of LHON in patients with presumed uniocular amblyopia from childhood. In such cases, the diagnosis may be difficult, and detailed structural and functional evaluation of the optic nerve head is necessary to assess whether an earlier LHON episode was misdiagnosed as amblyopia or whether LHON presented bilaterally on both eyes whilst only being noticed in the previously good eye.

Objective: This systematic review and meta-analysis aimed to determine the traumatic macular hole (TMH) closure rate and visual acuity (VA) improvement rate by comparing two treatment methods for TMH: vitrectomy and observation for spontaneous closure. Methods: PubMed, Cochrane, Web of Science Library, Embase, CNKI, Wanfang, VIP, and Sino Med were systematically searched from their inception to June 10, 2021. Studies in the surgery group ( n = 32) and studies in the observation group ( n = 12) were meta-analyzed. The primary outcomes were the TMH closure and VA improvement rates in the surgery and observation groups. The secondary outcomes were best-corrected visual acuity (BCVA) improvement in the surgery group. Stata software (version 15.1) was used for the analyses. Results: Thirty-six studies that included 1,009 eyes were selected for this meta-analysis, among which 33 were retrospective studies and 3 were prospective studies. The meta-analysis showed that the random-model pooled event rate for TMH closure was 0.37 (95% confidence interval [CI], 0.26–0.48) in the observation group, while it was 0.9 (95% CI, 0.85–0.94) in the surgery group. The fixed-model pooled event rate for VA improvement was 0.39 (95% CI, 0.33–0.45) in the observation group, while the random-model pooled event rate of VA improvement for the surgery group was 0.72 (95% CI, 0.63–0.80). The pooled event rate for BCVA improvement in the surgery group was 0.39 (95% CI, 0.33–0.46). Conclusions: This meta-analysis suggests that TMH hole closure and VA improvement rates in the surgery group were significantly higher than those in the observation group. Vitrectomy is an effective method for treating TMH. However, further randomized controlled trials (RCTs) are required to evaluate the efficacy and safety of surgery and observation for TMH treatment. Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/#recordDetails , identifier: CRD42021276684.

Purpose To compare the efficacy and safety of half-dose and one-third-dose photodynamic therapy (PDT) with verteporfin in patients with chronic central serous chorioretinopathy (CSC). Methods This retrospective study included 72 eyes from 72 patients with chronic CSC treated with either one-third-dose (2 mg/m²) or half-dose (3 mg/m²) PDT. Best-corrected visual acuity (BCVA), central retinal thickness (CRT), subretinal fluid (SRF) thickness, subfoveal choroidal thickness (SFCT), and optical coherence tomography (OCT) features were evaluated at baseline, 3 months, and 12 months. Fluorescein angiography (FA) was used to guide laser application. Treatment outcomes, including SRF resolution, BCVA gain, and recurrence rates, were compared between the two groups. Results At 12 months, complete SRF resolution was achieved in 40 eyes (78.4%) in the half-dose group and 15 eyes (71.4%) in the one-third-dose group. The recurrence rate of SRF was significantly higher in the one-third-dose group (20%) compared to the half-dose group (7.5%) ( P  =.015). BCVA improved significantly in both groups, with mean increases from 72.4 ± 3.9 to 77.1 ± 5.6 letters in the one-third-dose group and from 74.4 ± 4.2 to 80.2 ± 2.19 letters in the half-dose group. The proportion of patients achieving a ≥ 10-letter gain was higher in the half-dose group (52%) compared to the one-third-dose group (28.5%, P  =.001). Both groups exhibited significant reductions in CRT, SRF thickness, and SFCT ( P  <.001), with no significant intergroup differences. Baseline CRT and fluorescein leakage patterns influenced treatment response. Conclusions Both one-third-dose and half-dose PDT effectively improved visual and anatomical outcomes in patients with chronic CSC. However, half-dose PDT demonstrated superior efficacy in achieving SRF resolution and greater visual acuity gains with a lower recurrence rate. Clinical trial number Not applicable.

To analyze the effectiveness and stability of the refractive, topographic and visual outcomes of the standard cross-linking (SCXL) in keratoconus (KC) management. This study was designed as a retrospective non-comparative study that included 28 KC patients (n=49 eyes) who performed SCXL as a single procedure to treat KC and completed five-year follow-up period. The topographic, refractive and visual data were recorded preoperatively and at 12, 24, 36 and 60 months postoperatively. Forty eyes (81.6%) showed achieved postoperative spherical equivalent (SE) refraction better than the attempted refraction. Ten eyes (20.4%) improved by <1 D, 23 eyes (46.9%) improved from 1 D to <2 D and 7 eyes (14.3%) improved by ≥2 D. Both uncorrected distant visual acuity (UDVA) and corrected distant visual acuity (CDVA) showed statistically significant improvement from preoperative 1.34±0.29 (mean±SD) and 0.74±0.23 LogMAR to postoperative 0.99±0.32 and 0.50±0.22 LogMAR (P<0.0001) respectively. Both Kmax and SE refraction showed statistically significant and stable improvement from preoperative 51.95±1.90 and -7.90±3.14 D to postoperative 50.19±1.96 and -6.35±2.49 D (P<0.0001) respectively. Two eyes (4%) showed KC progression at the end of 5th follow-up year. SCXL had good effectiveness and stability that halted KC progression over 5-year follow-up period. It had also unexpected improvement in the KC refractive components mainly the spherical and SE components.

To report a treatment of radiation retinopathy in a patient exposed to ionizing radiation for a period of 2 years. A 26-year-old female patient with no comorbidities diagnosed with myelodysplasia confirmed by bone marrow biopsy. She presented a complaint of bilateral progressive visual acuity reduction. At the ophthalmologic examination, she presented alterations suggestive of radiation retinopathy as well as macular thickness to optical coherence tomography (OCT) of over 500 µm. The patient underwent intravitreal injection (0.05 mL) of ranibizumab (Lucentis ) monthly in both eyes and follow-up through visual acuity and OCT examination. She presented reduction of macular edema as well as a slight improvement of visual acuity. In this case, the treatment of radiation retinopathy with intravitreal injection of ranibizumab (Lucentis) was relatively useful, with a slight improvement of visual acuity, due to the regression of macular edema, not being curative.

Introduction Visual acuity (VA) and intraocular pressure (IOP) measurements are crucial indicators of ocular health. However, the documentation of these vital parameters in clinical notes often lacks standardisation. The aim of this study was to evaluate the feasibility of using of large language models (LLMs) for automated extraction of VA and IOP data from unstructured ophthalmology clinic notes. Method Outpatient clinic notes from The Queen Elizabeth Hospital Ophthalmology department were analysed using a 70 billion parameter LLaMA-3 model in a zero-shot learning approach. Nine data points per eye were extracted, including various VA measurements, IOP, and measurement methods. Results were compared to expert-verified ground truth data. Results Sixty-nine outpatient clinic notes were collected. Locally deployed LLM analysis of clinic notes was feasible. High accuracy was observed in extracting best corrected VA and IOP (above 90% for both eyes). Performance varied for other measurements, with lower accuracy for uncorrected VA (67–75%) and challenges in interpreting ambiguous documentation. The model struggled to identify assumed uncorrected VA cases, highlighting issues which may correlate with documentation clarity. Conclusion This study has demonstrated that it is feasible to deploy a LLM locally to extract VA data from free-text notes. However, the accuracy of extracted data was lacking in several domains. These performance issues highlight that further research is required to optimise the accuracy of the retrieved data.

Leber congenital amaurosis caused by mutations in the RPE65 gene belongs to the most severe early-onset hereditary childhood retinopathies naturally progressing to legal blindness. The novel gene therapy voretigene neparvovec is the first approved causative treatment option for this devastating eye disease and is specifically designed to treat RPE65-mediated retinal dystrophies. Herein, we present a follow-up of the youngest treated patients in Germany so far, including four pre-school children who received treatment with voretigene neparvovec at a single treatment center between January 2020 and May 2022. All patients underwent pars plana vitrectomy with circumferential peeling of the internal limiting membrane at the injection site and subretinal injection of voretigene neparvovec. Pre- and postoperative diagnostics included imaging (spectral domain optical coherence tomography, fundus autofluorescence, fundus wide-angle imaging), electrophysiologic examination (ERG), retinal light sensitivity measurements (FST) and visual acuity testing. Behavioral changes were assessed using a questionnaire and by observing the children’s vision-guided behavior in different levels of illumination. All children showed marked increase in vision-guided behavior shortly after therapy, as well as marked increase in visual acuity in the postoperative course up to full visual acuity in one child. Two eyes showed partial electrophysiological recovery of an ERG that was undetectable before treatment—a finding that has not been described in humans before.

Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up. Complete ophthalmological exam, electrophysiology and optical coherence tomography (OCT) segmentation were performed. The genotype analysis was performed with a complete screening of the mitochondrial genome. Furthermore, proteomic analysis of the protein structure and function was performed to assess the pathogenicity of a novel variant of unknown significance. Mitochondrial function analysis of the patient’s peripheral blood mononuclear cells (PBMCs) was performed with the objective of evaluating the mutation effect on mitochondrial function using flow cytometry and high-resolution respirometry. Results: The patient had a profound consecutive bilateral visual loss at 19 years of age due to optic neuropathy with characteristics of LHON; however, unlike patients with typical LHON, the patient experienced a fluctuation in visual function and significant late recovery. He had a total of three visual acuity deteriorations and improvements in the left eye, with concomitant visual loss in the right eye and a final visual acuity drop reaching nadir 9 months after onset. The visual loss was characterized by centrocecal scotoma, abnormal color vision and abnormal VEP, while deterioration of PERG N95 followed with a lag of several months. The OCT examination showed retinal nerve fiber layer thinning matching disease progression. Following a two-year period of legal blindness, the patient’s visual function started to improve, and over the course of 5 years, it reached 0.5 and 0.7 Snellen (0.3 and 0.15 LogMAR) visual acuity (VA). Mitochondrial sequencing identified a presumably pathogenic variant m.15309T>C in the MT-CYB gene at 65% heteroplasmy, belonging to haplogroup K. Mitochondrial function assessment of the patient’s PBMCs showed a lower respiration rate, an increase in reactive oxygen species production and the presence of mitochondrial depolarization, compared to an age- and sex-matched healthy control’s PBMCs. Conclusions: A novel variant in the MT-CYB:m.15309T>C (Ile188Thr) gene was identified in a patient with optic nerve damage and the LHON phenotype without any additional systemic features and atypical presentation of the disease with late onset of visual function recovery. The pathogenicity of the variant is supported by proteomic analysis and the mitochondrial dysfunction observed in the patient’s PBMCs.