bluuebunny/crossref_metadata_2025_split huggingface dataset:
Storytelling as a tool for engaging communication of eye research
Authors: Gallar Angeles 
Published: January 2025

On one occasion, chemist John Dalton (1766‐1844) committed an etiquette error due to his color blindness. Thinking he wore a gray robe, he met King William IV in bright red attire. Perhaps the Protestant monarch mistook the Quaker chemist for a Catholic cardinal. In the mid‐18th century, doctors believed color blindness resulted from a cerebral defect. Still, Dalton theorized his vitreous humor had a blue tint absorbing certain wavelengths, like wearing tinted sunglasses. Did he discover the true issue?Storytelling and science get along great. Stories are coherent narrations of interconnected events using context and imagery. Also, they ‘stick’ because they engage our emotions. Moreover, emotions can drive change. Stories enhance the visibility, credibility, and clarity of scientific messages.Scientific storytelling can be learned through outstanding storytelling examples of science communication. A structure for scientific storytelling can be achieved by finding the hook, the trigger, the action, and the climax of a particular research story. Learning how to draw the story map of scientific research will help audiences (and grant reviewers!) connect the dots for a logical flow of your ideas. It will engage readers. With these storytelling techniques, anyone can write clearer, more memorable grant proposals, papers, presentations, and press releases, improving the impact of scientific research.References
Betsch, C., Ulshöfer, C., Renkewitz, F., & Betsch, T. (2011). The influence of narrative v. Statistical information on perceiving vaccination risks. Medical Decision Making: An International Journal of the Society for Medical Decision Making, 31(5), 742–753.
Cormick, C. (2019). Who doesn’t love a good story? — What neuroscience tells about how we respond to narratives. Journal of Science Communication, 18(5), Y01.
Gallar, A. (2020) Los ojos de Dalton y el color de los átomos [Dalton's eyes and the color of atoms] UMHSapiens.com
Green, S. J., Grorud‐Colvert, K., & Mannix, H. (2018). Uniting science and stories: Perspectives on the value of storytelling for communicating science. FACETS.
Joubert, M., Davis, L., & Metcalfe, J. (2019). Storytelling: The soul of science communication. Journal of Science Communication, 18(5), E.
Yang, Y., & Hobbs, J. E. (2020). The Power of Stories: Narratives and Information Framing Effects in Science Communication. American Journal of Agricultural Economics.
Neeley et al. (2020). Linking Scholarship and Practice: Narrative and Identity in Science. Frontiers in Communication, 5, 35.
Olson, Randy. Houston, we have a narrative. University of Chicago Press, 2021.
New insights on the genetic basis underlying hereditary high myopia in a cohort of more than 100 spanish families
Authors: González Laura , Ferrer Xènia , de Lima Yasmin Soares , Busto Sandra Suescun , Méndez‐Vendrell Pilar , Ruiz‐Nogales Sheila , Lora Laura Zahino , Del Saz Ana Nolla , Garrido Claudia , Recasens Oscar , Navarro Rafael , Pomares Esther 
Published: January 2025

Aims/Purpose: This study focuses on the identification of new mutations and novel genes associated with hereditary high myopia, in order to determine the most prevalent variants in the Spanish population and to stablish the clinical characterization through the study of genotype‐phenotype correlations.Methods: 119 Spanish families (390 patients) were recruited. DNA samples from 347 patients were analysed by Whole Exome Sequencing. In silico analyses were carried out prioritising a custom‐designed panel of 549 genes related to myopia. Clinical ophthalmological assessments were performed to all the study subjects.Results: Genetic analysis was performed in 102 families affected by high myopia. In more than 20% of them, a clear genetic cause was identified in genes already involved with high myopia. Additionally, potentially pathogenic variants in the myopia‐related genes were identified in about 25% of the cases, and in 15% of the families, we identified likely pathogenic variants in candidate genes that have not yet been directly associated to myopia. These evidence lead us to estimate the genetic diagnosis in approximately 50% of the families. High myopia genes found can be classified into 4 groups according to their function: extracellular matrix, retina expression, SMAD family and others. Differences in clinical characterization between groups were observed.Conclusions: We were able to point out a possible genetic cause in about 50% of the families. Furthermore, we target new genes that could be involved in the molecular basis of hereditary high myopia, expanding the knowledge of this condition. High pathological myopia can be correlated to the gene function.References: High myopia occurs when the spherical refractive error exceeds ‐6.00 diopters or the axial length of the eye is greater than 26 mm. Genetic factors play a crucial role in its development, since it has an estimated heritability in more than 70% of cases, according to the literature.
Predictive factors of final visual outcome in patients with leber hereditary optic neuropathy treated with lenadogene nolparvovec gene therapy
Authors: Barboni Piero , Newman Nancy , Biousse Valérie , Yu‐Wai‐Man Patrick , Carelli Valerio , Vignal‐Clermont Catherine , Josse Constant , Taiel Magali , Sahel José‐Alain , Sergott Robert 
Published: January 2025

Aims/Purpose: To identify the predictive factors of final best‐corrected visual acuity (BCVA) in patients with Leber hereditary optic neuropathy (LHON) due to the m.11778G>A MT‐ND4 mutation who received lenadogene nolparvovec gene therapy in clinical studies.Methods: The following covariates were studied to identify those that might influence final BCVA: age, gender, timing of treatment, baseline BCVA value and baseline optical coherence tomography (OCT) parameters. Univariate analyses were performed from three phase 3 studies (RESCUE, REVERSE and REFLECT), using BCVA at 1.5 years post‐treatment as the dependent variable. In RESCUE and REVERSE, ND4‐LHON patients received an injection of gene therapy in one eye and a sham injection in the other. In REFLECT, the first‐affected eye received gene therapy, while the other eye was randomly injected with gene therapy or placebo.Results: In 290 untreated/treated eyes, the covariates statistically significantly associated with an improvement in final BCVA were a longer time from vision loss to treatment (p < 0.05), and thicker optical coherence tomography (OCT) parameters at baseline: ganglion cell layer (GCL) temporal outer segment, GCL superior outer segment, GCL nasal outer segment, and GCL inferior outer segment at ETDRS analysis, and retinal nerve fiber layer (RNFL) inferior quadrant, RNFL nasal quadrant and RNFL superior quadrant (p < 0.05). The greatest effects [95% confidence interval] were observed for the thickness of the inferior and superior outer GCL segments at baseline (‐0.1 [‐0.163; ‐0.037] and ‐0.09 [‐0.146; ‐0.033], respectively; both p = 0.002). A worse baseline BCVA was associated with a worse final BCVA (p < 0.0001).Conclusions: Timing of treatment administration, baseline BCVA value and baseline thickness of OCT parameters are predictive of the BCVA 1.5 years after treatment in patients with MT‐ND4 LHON who received lenadogene nolparvovec.
Adaptive optics fundus images: Automatic vs manual vessel segmentation
Authors: Bernardes Rui , Jordão João , Rodrigues Sérgio , Domingues Joana , Serranho Pedro , Guimarães Pedro 
Published: January 2025

Aims/Purpose: This work aims to assess the performance of an automatic method for segmenting the lumen of retinal arterioles from adaptive optics (AO) high‐resolution fundus images in comparison to manual segmentation and its potential impact on the determination of the neurovascular coupling (NVC) response.Methods: A total of 944 fundus images (4x4 degrees) within the macular region were acquired from 30 healthy adults (age (m+/‐sd): 33.7+/‐11.2 yrs.) and 15 type 1 Diabetes Mellitus (T1DM) patients (36.3+/‐13.3 yrs.), gender and imaged eye balanced by group, using the rtx1 AO camera (ImagineEyes, Orsay, France). Manual segmentations were performed by an experienced technician and assessed by an experienced retina specialist, and the average lumen diameter over a vessel segment was determined.The automatic method first identifies the vessel axis using a low‐pass filter followed by morphological operations. Images are Gabor filtered, and lumen‐wall interfaces are detected by analyzing intensity profiles perpendicular to the vessel axis. Candidate locations are kept or removed based on vessel curvature smoothness and the vessel wall's parallelism. Local polynomial fits establish final lumen‐wall interfaces, and the lumen diameter is determined by their distance as measured perpendicularly to the vessel axis.Results: The absolute value of the relative error (AVRE) (%) between methods was assessed, and outliers were determined based on their distribution, of which 89% (838/944) were inliers. Furthermore, all images for the same subject presented a systematic (positive or negative) difference uncorrelated to the lumen diameter (r=‐0.17). The AVRE ranged from 0.0% to 6.3%, with an average of 1.8% (Q1: 0.9, Q2: 1.8, Q3: 3.1).Conclusions: Achieved results show a consistent difference between manual and automatic segmentations, which might be explained by the difficulty in visually determining the exact interface location over grayscale images. However, these results show that no impact is expected in determining NVC response.
A new light‐adaptive lens improves contrast sensitivity when transitioning from bright to dark environments
Authors: Duarte‐Toledo Raul , Mompean Juan , Paniagua‐Diaz Alba , Lakhchaf Nacer , Kobia‐Acquah Emmanuel , Artal Pablo , Barrau Coralie 
Published: January 2025

Aims/Purpose: Light‐adaptive lenses, known as photochromic, adjust dynamically light intake. We recently evaluated the effect of a new ultra‐responsive light‐adaptive lens on contrast sensitivity recovery during fade back compared to the older photochromic generation, showing that faster fadeback speed improves contrast sensitivity. However, data was lacking in varying light, specifically when moving from bright to dark environments, and in comparison to a static clear lens. This study assessed dynamic contrast sensitivity changes with the new light‐adaptive lens after exposure to a transient bright light, compared to the older photochromic lens and to a static clear lens.Methods: Ten healthy subjects (28.7 ± 3.4 years, spherical equivalent ‐1.8 ± 1.8 D, astigmatism < 1D) were trained to control contrast of a sinusoidal grating (24 cycles/degree) at 3 m. Three lenses were used in a double‐blind cross‐over design; a clear lens, a photochromic TO2, and a new light‐adaptive TO1, twice as fast as TO2 in returning to clear state. Subjects were exposed to a bright light (8000 lux) for 30 seconds, then transitioned to darkness where contrast sensitivity was measured dynamically for 100 seconds. Recovery times for first contrast perception and 90% contrast sensitivity were recorded for each lens, tested three times. MANOVA with Tukey tests were performed.Results: TO1 recovered 90% contrast sensitivity 35% faster than clear lens (p < 0.01) and 23% faster than TO2 (p < 0.01). Initial contrast perception recovery was 55% faster with TO1 compared to clear lens (p < 0.001).Conclusions: The new light‐adaptive lens TO1 significantly improves visual performance in dynamic light conditions compared to the older photochromic lens TO2 and the static clear lens. This performance enhancement reduces light stress and improves visual function under normal viewing conditions.
Quantifiying epithelial cell viability on whole porcine lenses using triple Hoechst‐Ethidium‐Calcein‐AM staining in a chemical toxicity model
Authors: Poinard Sylvain , Coulomb Louise , Chapelon Gabriel , Cortez Oliver Dorado , Thomas Justin , He Zhiguo , Perrache Chantal , Ganeau Alice , Forest Fabien , Mascarelli Frederic , Gain Philippe , Thuret Gilles 
Published: January 2025

Aim: Establishing an ex vivo model of the crystalline lens will be a driving force for further research on this tissue. The epithelium plays an essential role in maintaining osmolarity, volume, and lens transparency. Therefore, it is crucial to have a tool to control the lens epithelium ex vivo. We have previously validated a method for quantifying epithelial cell viability on whole lenses ex vivo by triple labeling with Hoechst 33342, ethidium homodimer and calcein‐AM (HEC) using a model of acute frostbite necrosis. We now demonstrate the application of this triple labeling to a model of chemical toxicity by Staurosporine (STS) which induces cell death scattered all over the epithelial surface with a mild severity.Methods: Ten fresh pairs of 6‐month‐old porcine lens were retrieved. On one lens, a diffuse epithelial lesion was induced by an incubation in STS solution (0.5 μM in CorneaMax, Eurobio) during 24 hours at 37°C. The other was incubated in CorneaMax solution without STS in the same conditions. The day after, both were incubated for 1 hour at 20°C in a HEC mixture. Images were acquired with a macroscope (macro zoom microscope) and analyzed with ImageJ. Calcein‐AM and Ethidium images were used to calculate the area covered by living epithelial cells. Hoescht images allowed to count cell nuclei per unit area. Viable epithelial cell density (vEpCD) was defined as the number of viable cells per unit area. Different strategies were developed to reduce the background noise.Results: There was no interfering lens auto‐fluorescence for the exposure times used. The median vEpCD was 3804 cells/mm2 [10th‐90th percentiles = 2922–4862] for STS treated‐lenses versus 3896 cells/mm2 [3169–4980] for control lenses (p = 0.002).Conclusion: The assessment of lens epithelial cell viability has been proposed only in cell culture or isolated capsule models. Thanks to a simple sample preparation, triple HEC staining allows fluorescence imaging on large series of whole lens in order to respect the architecture of the epithelium. This STS model induces a subtle change in mortality, confirming the sensitivity of the technique and its use for cytotoxicity studies of new therapeutics targeting the lens.References
Mechanisms of staurosporine induced apoptosis in a human corneal endothelial cell line. Thuret G & al. Br J Ophthalmol. 2003
Genetic variations in human opsin genetics: Understanding color vision phenotypes and defects
Authors: Lilja Olivia , Backlund Michael , Tiihonen Jussi , Kangas Harri , Donner Kati , Ala‐Laurila Petri , Turunen Joni 
Published: January 2025

Purpose: The aim of this study was to analyze human opsin genes, OPN1LW and OPN1MW, for single nucleotide polymorphisms (SNP) and structural variants (SV) impacting color vision in subjects diagnosed with color vision deficiency.Methods: Nineteen subjects underwent anomaloscope examination to diagnose color vision deficiency phenotypes (dichromatic: protanopia and deuteranopia). First, a previously published method of long range‐PCR and sequencing was performed to identify variations in OPN1LW, OPN1MW, and OPN1SW. In the case of discrepancy, ultra‐long nanopore sequencing was utilized to identify possible SVs.Results: The long range‐PCR and sequencing genetically validated the color vision diagnosis for 17 of the 19 individuals. For two individuals the genetic and functional diagnoses conflicted. Ultra‐long nanopore sequencing of these two revealed possible rearrangements in the opsin gene cluster that could affect the color vision and explain the conflicting results based on the long‐PCR method.Conclusions: The large size of the human opsin gene cluster and the high degree of sequence homology between OPN1LW and OPN1MW genes have been a challenge for genetic studies of color vision deficiencies. The development of ultra‐long nanopore sequencing technology allows for a more comprehensive genetic analysis of this region, especially for the detection of pathogenic SVs. In this study, we were able to identify possible SVs underlying color vision deficiency in cases that were missed by the long range‐PCR. However, alignment of the ultra‐long sequences to the reference genome at the variable opsin gene cluster region remains a challenge for the data analysis.
Retinal vessel flicker light responsitiviness and its relation to analysis protocols, static and metabolic data in healthy subjects
Authors: Artemiev Dmitri , Todorova Margarita 
Published: January 2025

Aims/Purpose: To assess agreement between different analysis protocols for determination of retinal vessel dilation response to flicker light (FL) and its relation to static‐ and metabolic parameters of retinal vessels in healthy subjects.Methods: 24 right eyes of 24 healthy controls (mean age: 35.87 ±SD 14.20 years), who underwent dynamic‐ and static retinal diameter‐ and oxygen saturation measurements on Retinal Vessel Analyser were included (RVA, Imedos, Jena, Germany). Using repeated video analyses, responses to FL were measured within the superior‐temporal (ST) area. Taking the length and the location into account, the FL data were evaluated in 3 groups: length < 1 optic disc (OD) (group 1); length > 1OD: close to the OD (group 2) and within the VesselMap area (group 3).For comparability, the static‐ (CRA, CRV, AVR) and oxygen saturation parameters (A‐V SO2, V‐SO2, A‐V SO2) were calculated in the ST peripapillary area using the VesselMap tool of RVA and were evaluated in relation to the corresponding dynamic ones (group 3).Results: In all groups, vascular FL response of arteries was less pronounced compared to venules (p = 0.023). Event thought, FL responses (mean ±SD: FL‐A; FL‐V, %) in group 1 to be more pronounced (mean 3.36 ±2.31; 4.42 ±1.69) compared to those in groups 2 (mean: 2.97 ±2.40; 4.08 ±1.55) and 3 (2.84 ±2.29; 4.21± 2.03) they did not reach statistically significant values (p > 0.44).The mean flicker response of venules showed negative correlations to the corresponding static‐ and metabolic parameters: CRV (r = ‐0.489; p = 0.015) and V‐SO2 (r = ‐0.375; p = 0.001).Conclusions: Our study confirms, that flicker light response, even showing slight difference about its length and location, allows agreeable measurements. However, even in healthy subjects, the effect of the static‐ and metabolic retinal vessel measurements on retinal venular flicker response should be taken in consideration.
Secretory autophagy markers are upregulated in age‐related macular degeneration
Authors: Gurubaran Iswariyaraja Sridevi , Koskela Ali , Kaarniranta Kai 
Published: January 2025

Aims/Purpose: Our previous studies have shown an increasing correlation between dysfunctional autophagy and the progression of age‐related macular degeneration (AMD). In this study, we investigated secretory autophagy, an unconventional process involving the secretion of cytosolic leaderless cargos (proteins without N‐terminal peptides) into the extracellular space. We analyzed the signaling pathways involving secretory autophagy in retinal pigment epithelial cells.Methods: Enucleated eyes from age‐matched controls (n = 9), dry (n = 6), and wet (n = 4) AMD donors were fixed and embedded in paraffin. From paraffin blocks, 5 μm‐thick parasagittal serial sections were cut, immunostained, and analyzed using the color deconvolution method in ImageJ. Clinical sample validation was based on patient registry history and optical coherent tomography (OCT) images.Results: Our data revealed a significant increase in the selective autophagy marker sequestosome 1/p62 (p ≤ 0.0179) in AMD samples. Similarly, secretory autophagy markers Tripartite Motif Containing 16 (TRIM16) (p ≤ 0.0001), vesicle‐trafficking protein Sec22B (p ≤ 0.0001), ferritin (p ≤ 0.0001), cytokine IL1‐β (p ≤ 0.0001), and Galectin‐8 (p ≤ 0.0001) exhibited increased staining levels in AMD samples.Conclusions: Secretory autophagy markers are upregulated in the retinal pigment epithelial cells (RPE) of clinically diagnosed cadaver AMD samples. We believe that secretory autophagy may open novel therapy strategies for AMD.
Inflammation and microglia activation contribute to retinal degeneration in peripherin‐2 mutant mice model
Authors: Cuenca Nicolas , Vidal‐Gil Lorena , Missonier Enola , Castillo Carla Sánchez , Kutsyr Oksana , Fernández‐Sánchez Laura , Albertos‐Arranz Henar , Sahin Ceren , Pastor‐Mas Marina , Saez Xavier Sanchez , Maneu Victoria , LAX Pedro , Martínez‐Gil Natalia 
Published: January 2025

Purpose: Central Areolar Choroidal Dystrophy (CACD) is a monogenic hereditary retinal disorder characterized by progressive retinal degeneration. In most cases, CACD presents an autosomal dominant inheritance pattern in which patients carry a single mutation in the peripherin (PRPRH2) gene. This study presents a functional, immunohistochemical and transcriptomic analysis of the retinas of a mouse model carrying the p.Arg195Leu mutation in the PRPH2 gene.Methods: Neural retinas from Prph2WT/WT and Prph2WT/KI mice were used at different ages. Electroretinogram (ERG) was used to evaluate the retinal response. Immunostaining against CD68 and Iba1 was performed in retinal sections to characterize the activation of inflammatory retinal cells. Also, TO‐PRO staining was used to study ONL retinal thickness. The expression profile of mRNAs across the progression of the retinal degeneration, was analyzed by RNA‐Seq. R software and DESeq2 package together with pathway enrichment were used to perform the analysis.Results: ERG responses showed a decrease in a and b‐wave values in Prph2 WT/KI compared to Prph2 WT/WT at late stages of the disease. Also, the retinal thickness decreased in an age‐dependent manner. Compared to control, RNA‐seq analysis identified more than 2,000 differential expression genes in Prph2WT/KI mice. An upregulation of anti‐inflammatory genes was found young mice, in contrast with the proinflammatory profile observed in older ones. These changes were also confirmed by CD68 and Iba1 increased immunoreactivity.Conclusions: The retinas of young Prph2WT/KI mice showed an anti‐inflammatory profile without any impact on retinal thickness or function, compared to control mice. However, at late stages of the disease, the loss of visual function and retinal thickness is accompanied by an activation of pro‐inflammatory response. Thus, the modulation of immune system response could be crucial in managing the progression of the disease.
Correlation between systemic hypertension and glaucoma risk: Insights from a population‐based glaucoma screening (NCT 05875090)
Authors: Monteiro Bernardo , Lima‐Cabrita Afonso , Whitfield Rafael , Lobo Vasco , Marques Rodrigo , Ourique Matilde , Varandas Teresa , Barão Rafael , Pazos Marta , Stalmans Ingeborg , Abegão‐Pinto Luís 
Published: January 2025

Aims/Purpose: To evaluate the association between glaucoma referral and systemic hypertension (SH) in participants in a population‐based glaucoma screening using artificial intelligence (AI).Methods: compare the odds of glaucoma referral between participants with and without SH. Glaucoma referral was defined by intraocular pressure (IOP) ≥ 24mmHg or AI index ≥ 0.73. Clinical data was extracted from electronical medical records. Statistical analyses included descriptive and bivariate statistics.Results: Data from 837 participants were analyzed, comprising 54% males, with an average age of 62±4 years, across 11 functional units of Santa Maria Local Health Unit. 63,4% (n = 530) of this cohort had SH, of which 81.1% were on angiotensin‐converting enzyme (ACE) inhibitors. SH was not a risk factor for positive Glaucoma referral (SH = 8.5% vs non‐SH = 6,86%; OR 1.663; 95% CI 0.827‐3.345). Interestingly, there appears to be a potential association between SH and a higher IOP (p = 0.024). Furthermore, there also appears to be a higher AI mean between hypertensive patients who are medicated with ACE inhibitors and those who are not (0.58 vs 0.52, p = 0.003).Conclusions: Our findings suggest a potential association between SH and a higher IOP but not with the AI index. Type of anti‐SH medication may influence optic disc damage assessment and thus may need to be considered in the management of glaucoma patients.