Neurofilament light chain levels differentiate ischemic from inflammatory optic neuropathies.

Homozygous DEAF1 mutation with developmental delay, microcephaly, and optic atrophy – A case report

Introduction: Children with Developmental Delay (DD) are at increased risk for ocular abnormalities, which may further hinder their overall growth and neurodevelopment. Understanding the spectrum of these manifestations is essential for early intervention. Aim: To investigate the prevalence and types of ocular manifestations in children with DD milestones, and to study antenatal, natal and postnatal factors present in these children with ocular manifestations. Materials and Methods: The present cross-sectional study was conducted at a tertiary care centre in Western Maharashtra from September 2023 to March 2025. A total of 201 children aged six months to 15 years with a clinical diagnosis of DD were included. Each child underwent a comprehensive ophthalmic examination, including visual acuity assessment, cycloplegic refraction, squint evaluation and anterior and posterior segment examination. Relevant antenatal, natal, and postnatal histories were also recorded. Statistical analysis was performed using Statistical Package for Social Sciences (SPSS) version 27. Descriptive statistics were used to summarise the data. A 95% confidence level was maintained, and a p-value<0.05 was considered statistically significant Results: The mean age of the participants was 5.73±4.07 years, with 120 (59.7%) males and 81 (40.3%) females. Ocular abnormalities were present in 166 (82.6%) children with DD, while 35 (17.4%) had normal ocular findings. Refractive errors were the most common, found in 119 (59.2%) children, including hypermetropia {55 (27.4%)}, astigmatism in {42 (20.9%)}, and myopia in {22 (10.9%)}.Other common ocular conditions included strabismus {59 (29.4%)}, Cortical Visual Impairment (CVI) {13 (6.5%)}, cataract {12 (6%)} Only round off done, The values are matching with the values given in table 5 and 6, amblyopia {7 (3.5%)}, keratoconus {8 (4%)}, and optic atrophy {7 (3.5%)}. Ocular abnormalities were slightly more frequent in children with Isolated Developmental Delay (IDD) {37 (18.4%)} than those with Global Developmental Delay (GDD) {129 (64.1%)}, though this difference was not statistically significant (p=0.942). No significant associations were observed between ocular abnormalities other than refractive errors and age group, sex, or consanguinity. However, preterm birth showed a statistically significant association with ocular abnormalities (p=0.016). Conclusion: Children with DD, especially those with global delay, are at high-risk for ocular abnormalities. Early diagnosis and intervention for conditions such as refractive errors, strabismus, and CVI are essential to improve visual outcomes and support overall development. Routine vision screening and multidisciplinary collaboration are vital for ensuring timely care and preventing long-term visual impairment.

Antidepressant effect of the peptide EIILEAGK from Apostichopus japonicus via inflammatory and mitochondrial regulations in a lipopolysaccharide mouse model.

SPG302 protects retinal ganglion cells and preserves visual function by preserving synaptic activity in a mouse model of glaucoma.

Optimizing tissue clearing methods for improved imaging of whole-mount retinas and optic nerves.

Is renal function associated with glaucoma or suspected glaucomatous optic neuropathy -Findings from health screening data in Japan

Prophylactic treatment with amnion progenitor cell secretome mitigates traumatic optic neuropathy.

Long-term prediction of radiation-induced optic neuropathy: A mixed-effects analysis of visual field kinetics following proton therapy.

Estradiol alleviates disease phenotypes caused by m.3635G>A mutation by activating mitochondrial biogenesis and PINK1-Parkin mediated mitophagy in iPSC-derived retinal pigment epithelium cells.

The clinical symptoms of paraneoplastic syndromes affecting the retina are varied and difficult to recognize. Ocular symptoms often appear as the first symptom, even before the diagnosis of cancer, so their recognition is of great importance. In our paper, we discuss paraneoplastic syndromes affecting the retina: cancer-associated retinopathy, melanoma-associated retinopathy, paraneoplastic vitelliform maculopathy, paraneoplastic optic neuropathy, and bilateral diffuse uveal melanocyte proliferation with case reports. Our goal is to contribute to the early diagnosis and rapid, adequate treatment of cancer through the early detection of paraneoplastic ophthalmic syndromes and a multidisciplinary approach. Orv Hetil. 2025; 166(48): 1898-1907.

KIF1A-Associated Neurological Disorder (KAND) is a rare, progressive neurodegenerative condition caused by variants in the KIF1A gene, which encodes a kinesin-3 motor protein essential for anterograde axonal transport of synaptic vesicles, dense core vesicles, and organelles in neurons. KAND comprises a broad spectrum of overlapping neurological phenotypes, including hereditary spastic paraplegia, intellectual disability, peripheral neuropathy, optic nerve atrophy, epilepsy, and progressive motor decline. Pathogenic variants in KIF1A disrupt the balance of intracellular transport and neuronal signalling through diverse mechanisms, manifesting with highly variable disease onset, severity, and clinical progression. Although advances in genomic testing have improved diagnosis, reported KAND cases remain concentrated in developed countries, highlighting ongoing global inequities in access to diagnosis and care. At present, no cure exists for KAND; treatment is limited to symptom management. A deeper understanding of KIF1A function, supported by the development of robust cellular and animal models, is critical for therapeutic development. This review summarises the clinical and molecular features of KAND and highlights current and emerging strategies aimed at slowing disease progression or correcting its underlying causes. We emphasise the urgent need for targeted treatment strategies addressing the heterogeneity of KAND.

Methotrexate-Induced Optic Neuropathy: A Rare and Under-Recognized Cause of Visual Loss in the Elderly

Background The ideal surgical technique for optic canal decompression (OCD) in cases of compressive optic neuropathy continues to be the subject of contention. Endoscopic and microsurgical OCD procedures have demonstrated encouraging outcomes; however, their comparative efficacy in enhancing visual acuity and post-op complications remains unclear. This meta-analysis thus evaluated the safety and efficacy of these methods across different circumstances. Methods A systematic review and meta-analysis were performed in accordance with PRISMA guidelines. Relevant randomized controlled trials (RCTs) were identified through PubMed, Embase, Cochrane Library, Scopus, and Web of Science. Studies assessed endoscopic and microsurgical decompression techniques for compressive ocular neuropathies. Statistical analyses were conducted using RevMan 5.4. A fixed-effects model was applied due to minimal heterogeneity ( I 2 = 0%), and statistical significance was defined as a p -value of <0.05. Results A total of seven studies ( n = 194 participants) were incorporated. Endoscopic techniques demonstrated considerable enhancements in visual acuity, especially for medial canal disorders (RR = 2.01; p < 0.00001). Microsurgical techniques gave superior circumferential decompression, up to 252.8° with pterional craniotomy, in contrast to 124.6° attained with endoscopic methods. Both procedures demonstrated minimal complication rates, with no substantial variations in postoperative cerebrospinal fluid (CSF) leakage or necessity for reoperation. Funnel plots suggested negligible publication bias, and sensitivity analysis validated the strength of findings. Conclusion Both endoscopic and microsurgical techniques were effective for OCD, with endoscopic methods providing the least invasive advantages and microsurgical approaches excelling in complex diseases necessitating considerable decompression. Systematic review registration https://www.crd.york.ac.uk/prospero/ , identifier CRD420251078576.

In 2021 the European Group on Graves' Orbitopathy (EUGOGO) published clinical practice guidelines for the management of GO, and in 2022 the American and European Thyroid Associations published the ATA/ETA consensus statement on the same topic. i) to highlight similarities and differences between the two documents, ii) to suggest possible amendments for future revisions. The two documents show a high degree of concordance as to classification, assessment, and prevention, as well as to treatment of mild GO, moderate-to-severe and inactive GO, and sight-threatening GO. The major disagreement regards treatment of moderate-to-severe and active GO. The EUGOGO guidelines, written when teprotumumab was not available outside the USA, indicate intravenous glucocorticoids (IVGC) (with/without mycophenolate) as the first-line treatment, whereas the ATA/ETA consensus statement indicates teprotumumab as the first-line treatment for virtually all of the phenotypes of moderate-to-severe and active GO, particularly when exophthalmos is predominant. However, also in the ATA/ETA consensus statement IVGC are the preferred treatment when the goal is GO inactivation and resolution of inflammation, and among the preferred treatments (in combination with orbital radiotherapy) when the goals are inactivation and correction of eye dysmotility. Recent developments to be considered in future revisions of the guidelines/consensus statement include the possible use of biologicals (teprotumumab, tocilizumab) for dysthyroid optic neuropathy, treatment of longstanding, inactive GO with teprotumumab, reconsideration of the cautious use of radioactive iodine in patients with moderate-to-severe and active GO concomitantly treated with IVGC (with/without orbital radiotherapy), use of statins as an adjunct therapy.

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder caused by mitochondrial DNA mutations in complex I of the respiratory chain, leading to impaired ATP production, mitochondrial fragmentation, and oxidative stress that contribute to vision loss. This study investigated the potential repurposing of metformin, a widely used antidiabetic drug, in fibroblasts from LHON patients carrying the m.11778G>A mutation. Fibroblasts from LHON patients and healthy individuals were treated with metformin, and mitochondrial function was assessed using high-content imaging, biochemical assays, immunoblotting, immunofluorescence, and Seahorse analysis. Metformin reduced mitochondrial fragmentation, increased network length, stabilized mitochondrial membrane potential, enhanced ATP production, and lowered ROS accumulation under oxidative stress. Metformin significantly increased mitophagy and autophagic flux, as shown by LC3B puncta quantification with and without chloroquine, and activated AMPK signaling through increased AMPKα1/2 phosphorylation and AMPKβ1 Ser182 phosphorylation. In addition, metformin promoted PGC-1α nuclear translocation, indicating stimulation of mitochondrial biogenesis, while maintaining mtDNA copy number and supporting oxidative phosphorylation. These findings suggest that metformin, at clinically relevant concentrations, enhances mitochondrial health and function in LHON fibroblasts, supporting its potential as an affordable and safe therapeutic option to mitigate vision loss in LHON.

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.

Purpose: To develop the first 3D optic nerve head (ONH) atlas using AI-based registration and evaluate its use in: (1) atlas-adjusted retinal nerve fiber layer (RNFL) analysis for glaucoma diagnosis, and (2) strain-based assessment of glaucoma severity. Methods: Large-scale OCT datasets were registered using REFLECTIVITY-generated tissue segmentations. A healthy atlas (n=460) and glaucoma atlases for mild (n=852), moderate (n=640), and severe (n=546) disease were built using an AI-driven algorithm incorporating structural and biomechanical constraints. Atlas quality was evaluated using inter-layer contrast and agreement between warped scans and the template. Atlas-adjusted RNFL thickness was extracted by mapping fixed 1.5 mm BMO-based reference points from the atlas to each subject and compared with standard subject-specific RNFL measurements. Effective strain relative to each atlas was computed by morphing subjects to the atlas template. Strain and thickness features were used to classify glaucoma severity. Results: The healthy atlas captured normative ONH anatomy, while glaucoma atlases showed stage-dependent changes. Registration accuracy was high (NCC=0.86+-0.05; Dice=0.90+-0.02), with strong inter-layer contrast (0.40+-0.03). Atlas-adjusted RNFL thickness improved separation between healthy and mild glaucoma (Cohen's d=0.77 vs. 0.72). Classification using atlas-adjusted profiles outperformed native measurements (AUC=0.771 vs. 0.757). Mean effective strain differed significantly across severity groups (ANOVA p<0.05), and CNNs trained on strain maps achieved strong classification (AUC=0.79). Conclusion: The ONH atlas provides a population-derived structural reference enabling anatomically consistent thickness mapping and strain-based characterization. It enhances diagnostic discrimination, supports severity classification, and offers a framework to study glaucomatous biomechanics.

Peripapillary choroidal melanoma provides a unique challenge; proximity to visually important structures, such as the optic disc and fovea, confers a high risk for the development of maculopathy and optic neuropathy, leading to poorer visual outcomes with most forms of radiotherapy. Ocular proton therapy (OPT) requires an aperture to shape the beam to the tumour. An aperture 'notch' may minimise damage to the optic disc and/or the fovea. This study aims to explore if there are any additional advantages to incorporating a notch over the optic nerve beam area. Retrospective audit (cohort study). Participants included eighty-three patients treated at Liverpool with proton beam therapy from January 2012 to March 2020 for their peripapillary choroidal melanoma. All had a minimum of two and a half years of follow-up vision data; this was to ensure there was enough visual acuity assessment data to perform sufficient analysis. Patients excluded had choroidal melanoma situated over 3 mm from the optic disc, as these were unlikely to have an aperture notch. A retrospective audit was undertaken in accordance with the Declaration of Helsinki, and registered with the Royal Liverpool Hospitals audit department (audit reference number: Ophth/SE/2024-25/25). Data was collated from the Liverpool Ocular Oncology database, clinic letters and the individual proton beam 3D plans. Robust statistical analysis using a mixed effects model was used to explore associations between notched beams and vision loss and complications. The primary outcome measure is visual acuity loss post-proton beam therapy. Secondary outcome measures were enucleation and other complication rates. Analysis shows that at 10 years post-OPT, there would be an expected 0.058 (p = 0.077) logMAR of vision saved using a notch for the optic disc compared to no notch (normal apertures); this is considered clinically significant. This cohort also loses vision at a slower rate than other cases. No other predictors were found to be statistically significant for loss of vision, and notched beams showed no advantage in reducing rates of complications. There is some evidence of a trend that utilising a notch for optic disc does show long-term vision benefit; it demonstrates a clinically significant benefit in patients with peripapillary choroidal melanoma.

Ethanol and Cyanide: A Case Report on Toxic and Nutritional Optic Neuropathy Associated With Alcohol and Tobacco