bluuebunny/crossref_metadata_2025_split huggingface dataset:
Normal findings
Authors: Schmidl Doreen 
Published: January 2025

Gonioscopy is an important diagnostic examination in ophthalmology. It is essential to understand the mechanisms underlying the different subtypes of glaucoma, not only for didactic reasons, but especially to correctly diagnose and appropriately treat each individual patient.Screening tests like the van Herrick method are helpful for screening purposes, but they cannot replace gonioscopy.In this presentation it is shown how to perform gonioscopy including dynamic gonioscopy and the normal findings. The most important angle landmarks and the orientation in the angle will be shown by videos and pictures.
Concepts of recovering depth of field after cataract surgery
Authors: Kaymak Hakan 
Published: January 2025

Patients presenting for cataract surgery who wish to reduce their dependence on spectacles for distance, intermediate and near viewing may choose from a wide range of options, from simple monofocal IOLs, to enhanced monofocal IOLs, to extended depth of focus (EDOF) IOLs, to bifocal and trifocal IOLs. These lenses are listed here in the generally accepted order of their ability to provide near vision. With any of the presbyopia correcting IOL options there is a higher likelihood of reduced contrast sensitivity and more visual disturbances relative to a monofocal IOL. The highest level of spectacle freedom is expected to be obtained with bilateral trifocal IOLs.The ability to provide good near vision with a trifocal IOL is important to many patients. Results from early research designed to objectively quantify the percentage of time spent viewing near/intermediate and far objects indicated that participants spent more than 40% of their time on near tasks (43%, ± 15%), exceeding the time spent on intermediate (30%, ± 15%) and distance (27% ± 12%) tasks.As can be seen, the distribution was quite varied, which makes it important to consider the individual's vision requirements when recommending a presbyopia‐correcting IOL or IOLs. In this course we will present the best way to implement
Enhance the visibility, credibility, and clarity of scientific messages
Authors: Meseguer Victor , Gallar Ángeles , Díaz‐Tahoces Ariadna 
Published: January 2025

Storytelling is a deeply human practice. Through narrative ‐understood as a representation of a possible world in a linguistic and/or visual medium, at whose center protagonists exist in a temporal and spatial sense (Fludernik, 2009)‐ the audience can immerse in a different world. Therefore, storytelling can be a powerful tool with which to engage any person with the societal relevance of a scientific project and enhance its visibility and credibility.This engagement is essential for science, even before the actual research is done. A research proposal, for example, needs to stand out amongst other equally valid work to gain funding. Later, a scientific paper must present the results clearly to have an impact, even for a niche audience (Hillier, 2016).The structure and language of storytelling can be helpful when conveying the planning and performing of experiments. A clear, orderly, and compelling narrative won’t compromise the integrity and authenticity of scientific research. On the contrary, when communicating outside the scientific community, a story arc provides a logical framework to present our research. Since people cannot like what they don’t understand and won't support what they don’t like, scientific research must bridge the gap between the scientific community and the general public to gain societal support. Yet, the constructs of scientific communication can be daunting for a nonscientific audience: the passive voice, overly formal language, undefined concepts, highlighting the results before explaining the problem we are trying to solve, etc.Starting with a question, focusing on the journey of knowledge, and explaining what's at stake are more effective approaches to convey scientific messages (Ettinger, 2020). Communicating our motivations will make complex content sound less alienating. A narrative based on a first‐person voice and including the researcher's origin of interest increases perceived authenticity in the non‐expert audience (Saffran et al., 2020). Furthermore, storytelling can help counter misinformation (Sangalang, 2019). Combining the facts of science and the persuasion of storytelling, scientific messages can use the persuasion of narrative to empower society.Ettinger, J. (2020). What Hollywood can teach researchers about scientific storytelling. Nature.Hillier, A., Kelly, R. P., & Klinger, T. (2016). Narrative Style Influences Citation Frequency in Climate Change Science. PLOS ONE, 11(12), e0167983.Saffran et al. (2020). Constructing and influencing perceived authenticity in science communication: Experimenting with narrative. PLOS ONE, 15(1), e0226711.Sangalang, A., Ophir, Y., & Cappella, J. N. (2019). The Potential for Narrative Correctives to Combat Misinformation. Journal of Communication, 69(3), 298–319.
What is needed for simulator‐based education?
Authors: Flockerzi Elias , Deuchler Svenja , Dail Yaser Abu , Sneyers Albéric , Berger Tim , Koch Frank , Seitz Berthold 
Published: January 2025

While ophthalmologists relied primarily on learning on the real human eye and performed their first surgical steps on the pig's eye in the past, there exist nowadays multiple options for diagnostic and surgical simulation‐based education in ophthalmology.These range from simple direct ophthalmoscopy simulators displaying pathologic fundus findings to direct and indirect ophthalmoscopy simulators that provide both instructions and information on learning progress by recording and analyzing the examination process.Surgical simulators exist for both cataract and vitreoretinal surgery and are very popular. An expansion in the field of corneal and glaucoma surgery can be expected in the future.Recently, the range of simulation‐based education in ophthalmology was further expanded to include a slit lamp simulator and a retinopathy of prematurity simulator.In view of the various existing simulation‐based education options in ophthalmology, the aim is to work out what is necessary in addition to the pure offering of simulation in order to measure and guarantee the success of simulation‐based education.
Sensitive methods for assessing spatial vision suitable for early detection and monitoring of diabetes
Authors: Bohra Sajni , Rodriguez‐Carmona Marisa , Barbur John 
Published: January 2025

Aims/Purpose: Emerging evidence suggests functional changes occur as early as during the prediabetic stage, yet the diagnostic criteria for diabetic ocular complications primarily focuses on retinal vasculature changes. This study explores functional contrast sensitivity (FCS) and visual acuity (VA) measured with briefly presented stimuli of positive and negative luminance contrast. The aim was to investigate if changes in spatial vision can be measured with greater sensitivity to serve as biomarkers for early diabetes.Methods: Controls and subjects with prediabetes (HbA1c between 42‐47 mmol/mol) were included in the study. VA and FCS were measured monocularly using the Acuity‐Plus test. employing both positive and negative contrast optotypes in the same test using four interleaved stimulus conditions. Best‐corrected visual acuity was also measured in each subject using the ETDRS chart.Results: VA and FCS thresholds were higher in the prediabetic groups compared to controls, with a more significant difference observed in negative contrast. Prediabetics exhibited ~18% (+ve contrast) and ~34% (‐ve contrast) poorer VA when compared to controls. When comparing FCS, the prediabetic group exhibited ~31% (+ve) and ~46% (‐ve) higher thresholds. Notably, none of the controls exceeded the upper limits for their corresponding age for negative contrast VA, contrasting with ~8.8% of prediabetics. Moreover, only ~2% of controls exceeded the upper limit, compared to ~14% of prediabetics. Furthermore, VA thresholds measured using the Acuity‐Plus test were significantly higher than the corresponding values measured using the ETDRS chart. This was especially so in prediabetics, suggesting that the Acuity‐Plus test is more sensitive in detecting early visual function impairments. Additionally, a positive correlation was found between HbA1c levels and increasing VA and FCS thresholds.Conclusions: The findings indicate that VA and FCS, particularly with negative contrast stimuli, are impaired in individuals with prediabetes. This suggests that spatial vision tests, especially the Acuity‐Plus which employs briefly presented stimuli, could serve as valuable biomarkers for early detection of diabetes, potentially leading to more timely interventions.References: DOI: 10.1111/opo.13037.
The incidence of serious anterior segment complications after selective laser trabeculoplasty
Authors: Ojanen Eeva , Turunen Joni , Harju Mika 
Published: January 2025

Aims/Purpose: Selective laser trabeculoplasty (SLT) is a safe, effective, and common treatment for glaucoma and ocular hypertension. There are reports of rare complications of SLT, but the incidence of these events is not known. Here, we evaluated the incidence of serious anterior segment complications after SLT.Methods: Eligible to the study were patients who underwent SLT at the Department of Ophthalmology, Helsinki University Hospital from the 1st of January 2004 to 30th of April 2018. From electronic medical records, demographics, procedure details, complications, predisposing factors, and clinical outcomes data were extracted retrospectively. The main outcome measure was complications including corneal edema, corneal scaring, hyperopic shift, and anterior chamber hyphema.Results: A total of 4748 SLTs (3546 eyes) of 2189 patients were analyzed. Nine patients had hemorrhages in the anterior chamber angle (incidence 1.8/1000) during or after SLT. Three of them developed hyphema, and all three were on anticoagulation medication. One patient developed multiple peripheral anterior synechia after hyphema. The incidence of hyphema was 0.63/1000. Corneal edema was reported in four patients, resulting in an incidence of 0.84/1000. One myopic eye after a second SLT had a permanent corneal scaring and thinning with a hyperopic shift (5.3D) resulting in poor vision visual acuity from (0.9 to 0.6). The incidence was less than 1/4748 for all eyes and 1/368 for eyes with known myopia of ‐5D or more.Conclusions: After SLT, the number of complications was low with only one permanent vision deterioration after 4748 treatments. These findings may help clinicians to reassure the patients when offering the SLT also as a first‐line treatment for ocular hypertension or primary open angle glaucoma.
Physiological activation of liver x receptor provides protection against ocular inflammation in uveitic glaucoma
Authors: Choi Jin A. , Lee Ji Young , Ahn Jin‐Hyun , Skiba Nikolai , Rao Vasantha 
Published: January 2025

Aims/Purpose: In the pathogenesis of uveitic glaucoma, virus‐induced trabeculitis is considered as a significant cause, markedly by a sudden increase in intraocular pressure (IOP) and relatively mild inflammation in the anterior chamber. In the previous proteome analyses of the aqueous humor derived from the CMV uveitic glaucoma patients using IPA analyses, we observed that the Liver X receptor (LXR) pathway is among the most prominently activated canonical pathways. Thus, we explored the role of LXR pathway in the etiology of glaucoma in association with ocular inflammation.Methods: Regulation of expression by external cues, and the distribution and secretion of LXR‐ABCA1 by human trabecular meshwork (TM) primary cell cultures and aqueous humor derived from patients with uveitic glaucoma. The effects of LXR agonist were evaluated in the context of LPS‐mediated inflammation in human TM and in a rat model of endotoxin‐induced uveitis.Results: LXRα/β and ABCA1 were confirmed to be distributed throughout the conventional aqueous humor outflow pathway of the human eye. LXRα/β and ABCA1 were significantly increased in human TM cells in response to CMV infection and LPS. LXR agonists inhibited LPS induction of IL‐1, IL‐6, MCP‐1, and ATX. In both LXRα/LXRβ knockdown cells, LXR agonist induced suppression was reversed, suggesting that such suppression is LXRα or LXRβ receptor mediated. In rat model, LXR agonist significantly reduced infiltrating cells and decreased the expression of proinflammatory cytokines, including TNF‐α, IL‐1, IL‐6, MCP‐1, NFkB2, and TGF‐β1 in iris and retina.Conclusions: In the conventional outflow tract, LXR‐ABCA molecules were physiologically distributed, showing a robust induction in response to inflammatory insult. Moreover, the activation of LXR exhibited a potent anti‐inflammatory effect, suggesting its physiological protective role in the glaucoma associated with ocular inflammation.
Clinical and genetic profile of patients with leber's congenital amaurosis
Authors: Sahli Esra , Çavdarlı Büşranur , Kızıltunç Pınar Bingöl , Atilla Huban 
Published: January 2025

Aims/Purpose: To report clinical examination findings and responsible genetic variants in a cohort of patients with a prediagnosis of Leber's congenital amaurosis (LCA).Methods: The children with severely decreased visual acuity (20/200 or less), oculo‐digital sign, roving eye movements, high hyperopia, and normal or LCA‐specific fundus appearance at presentation were included in the study. Mutations were revealed using whole exome sequencing to the proband in a family, and Sanger DNA sequencing of the specific mutation to the other affected family members.Results: Forty‐three patients with a prediagnosis of LCA were included in the study. After excluding 2 patients with Senior‐Loken syndrome (IQCB1 gene mutation), 1 patient with Alström syndrome (ALMS1 gene mutation), and 2 patients without a mutation in a disease‐associated gene, the most common mutated gene was GUCY2D. It was responsible for the disease in 8 patients (21.05%). This was followed by CEP290 gene mutation in 5 patients (13.1%), but the mutation was heterozygous in 1 patient. AIPL1 gene mutation was identified in 4 patients (9.5%). The following mutations were found in the LCA5 gene in 5 patients (13.1%) including two siblings, RPGRIP gene in 3 patients (7.8%) including two siblings, RDH12 gene in 3 siblings (7.8%), RP2 gene in 2 siblings (5.2%), RPE65 gene in 1 patient and SPATA7 gene in 1 patient. Heterozygous mutation in the ABCA4 gene was defined in 3 children and hemizygous mutation in the CACNA1F gene was defined in 1 child with LCA presentation. Children with CEP290 mutation had the worst visual functions, with none having light fixation at baseline examination and only 1 patient having a visual acuity of 20/400, which can be measured at the age of 5 years. Visual functions of patients with mutations in the AIPL1 gene at baseline and follow‐up were limited to light following at 20 cm.Conclusions: Unlike genes previously reported in the literature for different races, the most frequently mutated gene in this Turkish cohort is GUCY2D.
From leigh syndrome to isolated optic neuropathy: A new piece to the mitochondrial complex I genetic puzzle
Authors: Caporali Leonardo , Fiorini Claudio , Jurkute Neringa , Torraco Alessandra , Yu‐Wai‐Man Patrick , Carelli Valerio , Carrozzo Rosalba , Arno Gavin 
Published: January 2025

Aims/Purpose: The genetic landscape of inherited optic neuropathies is continuously expanding and includes numerous nuclear DNA‐encoded genes or loci1, encompassing dominant, recessive, and X‐linked inheritance patterns. Pathogenic variants in respiratory Complex I (CI) genes, typically are associated to severe early onset phenotypes, but have occasionally identified also in syndromic optic atrophy. Therefore, we investigated CI genes to identify pathogenic variants in patients with optic atrophy who previously tested negative for optic atrophy panel screenings.Methods: We conducted whole exome, clinical exome or whole genome sequencing on all available patients. Those who were found to carry pathogenic variants underwent additional clinical evaluations, including MRI and neurological examinations.Results: We identified pathogenic or likely pathogenic variants in 24 patients from 19 families, with biallelic or hemizygous variants in 10 different genes coding for subunits or assembly factors of CI. These variants span all major types of peptides involved in the structure of CI, including 3 core subunits (NDUFS7, NDUFV1, NDUFV2), 3 accessory subunits (NDUFA1, NDUFA10, NDUFB11), and 4 assembly factors (NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF8). Notably, defects in core CI subunits lead to isolated optic atrophy, defects in accessory CI subunits resulted in an optic atrophy plus phenotype, and defects in assembly CI factors lead to a spectrum ranging from isolated to syndromic optic atrophy. In some cases, the disease presentation closely resembled LHON, further expanding the list of genes that may cause recessive LHON‐like phenotype.Conclusions: Pathogenic variants in nuclear CI‐related genes, typically linked to Leigh syndrome, are also common causes of isolated or syndromic optic atrophy. This discovery further broadens the genetic landscape of inherited optic atrophy and LHON.References: 1Fiorini C et al. The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10. Brain. 2023;146(9):e67‐e70. doi:10.1093/brain/awad080
Efficacy and safety of lenadogene nolparvovec gene therapy for leber hereditary optic neuropathy in the real‐life setting
Authors: Yu‐Wai‐Man Patrick , Vignal‐Clermont Catherine , Carelli Valerio , La Morgia Chiara , Moster Mark , Sergott Robert , Donahue Sean , Dollfus Hélène , Klopstock Thomas , Priglinger Claudia , Hage Rabih , Smirnov Vasily , Cochard Catherine , Rougier Marie‐Benedicte , Tournaire‐Marques Emilie , Lebranchu Pierre , Froment Caroline , Pollet‐Villard Frederic , Laville Marie‐Alice , Prospero‐Ponce Claudia , Walter Scott D. , Munier Francis , Zoppe Pauline , Taiel Magali , Sahel José‐Alain 
Published: January 2025

Aims/Purpose: Early access programs enable patients with Leber hereditary optic neuropathy (LHON) due to the m.11778G>A MT‐ND4 mutation to receive lenadogene nolparvovec, a gene therapy that has not yet received marketing authorization.Methods: Lenadogene nolparvovec was provided based on unsolicited requests and its use was authorized by local regulations. Patients received lenadogene nolparvovec in 4 countries (France, Italy, the United Kingdom [UK], and the United States of America [USA]) as a unilateral or bilateral intravitreal injection at 9x1010 viral genomes/eye.Results: Lenadogene nolparvovec was administered to 63 patients with MT‐ND4 LHON, mainly in France (56%) and the USA (29%); 42 (67%) patients received bilateral injections. At the time of the first injection, mean age (standard deviation [SD]) was 33.7 (16.6) years and mean (SD) duration of disease was 11.4 (9.6) months. Most (84%) patients were treated with idebenone at the same time as or after gene therapy injection. At one year, mean change in best‐corrected visual acuity (BCVA) from nadir was ‐0.42 (0.54) LogMAR (+21 ETDRS letters equivalent) (n = 53 patients). An improvement of at least 0.3 LogMAR from nadir was observed in 61% of patients. Lenadogene nolparvovec safety was favorable and comparable to that of phase 3 clinical trials.Conclusions: Injection of lenadogene nolparvovec in the real‐life setting was associated with a clinically meaningful improvement in BCVA from nadir and a favorable safety profile similar to that observed in phase 3 clinical trials.
OCT‐ Angiography evaluation of the autonomic influence on the retinal microvasculature in the peripapillary region of optic nerve head
Authors: Marques‐Neves Carlos , Nunes Beatriz , Rocha Isabel , Rosa Michele , Santos Mariana , Lima‐Cabrita Afonso , Sousa David 
Published: January 2025

Aims/Purpose: The autonomic nervous system (ANS) is crucial for regulating blood circulation, including ocular circulation, which is vital for vision. Diseases like glaucoma, age‐related macular degeneration, diabetes, and hypertension can disrupt this regulation, impacting retinal blood flow (RBF). Understanding the effects of ANS on RBF could aid in developing targeted and personalized treatments for these conditions.Objective: This study aims to investigate ANS influence on peripapillary vessel density (PPVD) using optical coherence tomography angiography (OCTA) in healthy individuals.Methods: OCTA scans of the right eye were performed in 12 healthy individuals at 3 different time points: at the beginning of the study (B), after parasympathetic stimulation‐deep breathing (PSY) and after sympathetic stimulation‐handgrip (SY). Vessel density was measured within a specific circular crown analysis was conducted within a circular crown with an (inner/outer) radius of (0.6/1.19) mm area, using the Erlangen Angio Tool (EA Tool). ANS function was assessed through beat to beat recordings of blood pressure (BP) and ECG signals (Task Force Monitor) immediately before and after each ANS provocation using the Hilbert‐Huang transform as stated in Laranjo et al 2017. Heart rate (HR), cardiac output (CO) and vascular resistance (TPR) were also computed. Statistical analysis was performed using R software and a p < 0.05 was significant.Results: Changes in the optic nerve head (ONH) circuit were observed during (PSY) increasing 14.09% and (SY) increasing 11.20 % in both ANS provocative manoeuvres (p < 0.05). Mean BP 79.15 (B) mmHg(69.09/83.43), HR (B) 73.9 bp(74.51/76.91), TPR (B) 2448.42 dyne.s.m2.m−5 (1947.0/2393.75) and CO(B) 2,71 l.mn−1.m−2 (2.98/2.85) changed with ANS stimuli (PSY/SY), respectively, in line with the changes in PPVD. A strong linear correlation was observed between the ONH perfusion index and the reciprocal of mean TPR index under both provocative conditions TPR−1versus PPVD 0.5466/0.4771 (PSY/SY) respectively.Conclusions: ANS input significantly affects ONH blood flow and can be measured with OCTA, reflecting adaptive responses. Understanding ANS effects on PPVD is crucial for developing precise treatments for diseases affecting ANS and ocular conditions.