bluuebunny/crossref_metadata_2025_split huggingface dataset:
Carlevale intraocular lens refractive predictability: A retrospective analysis
Authors: Dias Bruno Guerreiro , Matos Diogo Bernardo , Marques‐Neves Carlos , Faria Mun Yueh , Ferreira Nuno Pinto 
Published: January 2025

Aims/Purpose: The purpose of this study was to evaluate the refractive predictability of the sutureless scleral fixation Carlevale intraocular lens (IOL) for the correction of aphakia in the absence of capsular support.Methods: Retrospective cohort study. Consecutive patients implanted with Carlevale IOL between February 2020 and February 2024, with a minimum follow‐up of 3 months, were included. Exclusion criteria included use of toric IOLs and absence of postoperative refraction due to a severely limited visual acuity or lack of cooperation. The clinical data were acquired from the patients' records. Primary outcome was the postoperative spherical equivalent deviation (PSED) in relation to the preoperative refractive target. Secondary outcomes included the best corrected visual acuity (BCVA), surgically induced astigmatism (SIA), and postoperative complications.Results: A total of 44 eyes were implanted with the Carlevale IOL in the study period. Of these, 30 met the inclusion criteria and were included in the statistical analysis. The mean follow‐up time was 18.3 ± 11.7 months, and the mean age at the time of surgery was 70.93 ± 16.28 years. The most common surgical indications were aphakia after complicated cataract surgery (40%, n = 12), IOL dislocation (33.3%, n = 10), and aphakia after trauma (20%, n = 6). The PSED was ‐0.62 ± 1.51 diopters, with no statistically significant difference between surgical indication groups (p = 0.606). BCVA showed a statistically significant increase from 1.52 ± 0.88 to 0.42 ± 0.41 logMAR (p < 0.001). The trauma group had worse BCVA results (p = 0.013). The SIA was 1.14 ± 1.93 diopters. Regarding postoperative complications, the most common were transient ocular hypertension (20%), bleeding (hyphema or hemovitreous; 13.3%), and cystoid macular edema (6.6%).Conclusions: The Carlevale IOL is a valuable option in our arsenal for managing aphakic eyes with no capsular support. It appears to provide acceptable predictability in refractive outcomes, with low astigmatism and few associated complications.
Congenital aniridia: experience of 26 years in the department of pediatric ophtalmology of Casablanca, Morocco
Authors: Daghouj Ghizlane , Ettouri Sara , Rokaya Chahir , Rami Ali , El Maaloum Loubna , Allali Bouchra , El Kettani Asmaa 
Published: January 2025

Aims/Purpose: Report the experience of 26 years in the department of pediatric ophthalmology in Casablanca.Methods: Retrospective study from 1996 to 2022 about 30 eyes with congenital aniridia.Results: The average age is 83.35 months. Male at 53% and female at 47% .46% with nystagmus. 20% of the eyes were with corneal involvement. 56.6% of the lenses are cataract. 30% of lenses were dislocated. 30% of aniridia were associated with glaucoma .33.3% of fundus where passage were possible: 22% were normal and the rest pathological. Glaucoma: 2 of the 9 eyes with glaucoma were operated on and the rest under hypotonic medical treatment. Cataract: 13 operated eyes. All children received optical correction and amblyopia treatment. All abdominal ultrasounds were normal. The gain in visual acuity on average was 1 line after therapeutic measures.Conclusions: Aniridia is rare but can significantly and progressively impair vision by reaching the entire eyeball with polymorphic manifestations. Management of aniridia remains difficult, it must be both proactive and responsive, with medical or surgical management or both of them. In sporadic forms an abdominal ultrasound is necessary to rule out the presence of Wilms tumor.References
Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease. Lozano‐Sanroma J, Barros A, Alcalde I, Alvarado‐Villacorta R, Sánchez‐Ávila RM, Queiruga‐Piñeiro J, Cueto LF, Anitua E, Merayo‐Lloves J.Diseases. 2024 Apr 11; 12(4): 76. doi: 10.3390/diseases12040076.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6‐Associated Congenital Aniridia across the Russian Federation: A Nationwide Study. Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA.Genes (Basel). 2023 Nov 4; 14(11): 2041. doi: 10.3390/genes14112041.
Congenital aniridia and cataract. C. Speeg‐Schatz. Journal francais d’ophtalmologie, Volume35‐ N°4, Avril 2012. Doi: 10.1016/j.jfo.2011.04.017
Whole genome sequencing requested directly from a multi‐ethnic london adult retinal clinic
Authors: Jabarkhyl Dost , Jeste Mrunmayi , Chow Isabelle , Mohamed Moin , Mahroo Omar 
Published: January 2025

Aims/Purpose: Physicians in the UK can now request whole genome sequencing (WGS) for suspected inherited retinal disease (IRD), funded by a National Genomic Medicine Service. Achieving genetic diagnoses can be more challenging for ethnicities with lower representation in reference genomes. We report initial results from a specialist adult retinal service, with no prior experience of direct genetic testing from clinic.Methods: WGS was undertaken with screening of a virtual panel of known IRD‐associated genes. Exceptions to WGS included suspected albinism and pseudoxanthoma elasticum, where targeted sequencing was undertaken of albinism‐associated genes or ABCC6 respectively.Results: To date, results for 28 patients (mean (SD) age, 51 (17) years; 17 females) from 27 families have been received. Ethnicities were white European (13), African (9), South Asian (3), and mixed (3). Reports were positive in 15 cases (variants in ABCA4, BEST1, USH2A, TYR, COL18A1, RHO, ABCC6, PRPF8, CRB1, EFEMP1, NR2E3, CNGB3, CERKL) and were consistent with the clinical phenotype. Ten reports were negative and 3 were inconclusive. In 2 of the latter, the phenotype was sufficiently specific (Bietti crystalline dystrophy and Oguchi disease) to allow attribution of disease to variants found in CYP4V2 and GRK1 respectively. Of 17 patients achieving a genetic diagnosis, 9 were white European, 6 were of African origin, 1 South Asian, and 1 of mixed ethnicity). Mean (SD) time between patient consent and report availability was 9.0 (2.5) months.Conclusions: In this analysis of tests performed so far from a clinic serving a multi‐ethnic patient population, a molecular diagnosis was achieved in 61% of patients. The phenotype continues to be important for correctly interpreting genetic data. Achieving genetic diagnosis allows confirmation of genetic aetiology, more informed counselling relating to risk to children, and determines eligibility for the increasing number of gene‐directed experimental therapies.
Genome‐wide association study of anterior uveitis
Authors: Koskimäki Fredrika , Ahokas Oona ,   FinnGen Consortium,   Estonian Biobank Research Team, Elnahas Abdelrahman , Reigo Anu , Reis Kadri , Esko Tõnu , Palta Priit , Leinonen Sanna , Kettunen Johannes , Liinamaa Johanna , Karjalainen Minna , Saarela Ville 
Published: January 2025

Aims/Purpose: The purpose of this study was to identify new genetic associations of anterior uveitis through genome‐wide association study (GWAS).Methods: We conducted a GWAS meta‐analysis combining data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 cases and 917 145 controls. A phenome‐wide association study was performed to investigate associations across phenotypes and traits. Genetic correlations of anterior uveitis were evaluated.Results: We detected six anterior uveitis associated genomic regions with genome‐wide significance (p < 5 × 10‐8). Three novel loci were identified: INAVA, NLRP3 and NOS2. Three previously reported associations at HLA region, ERAP1 and TNRC18 were detected. All of these loci had biologically relevant genes involved in immunity. We also replicated associations at two loci previously associated with acute anterior uveitis (IL23R and HDAC2‐AS2). Phenome‐wide association study indicated that lead SNPs at three of the anterior uveitis associated loci (ERAP1, INAVA and TNRC18) are associated with other immunity‐related phenotypes, including ankylosing spondylitis and inflammatory bowel disease. A moderate genetic correlation between anterior uveitis and inflammatory bowel disease was found in genetic correlation analysis (rg = 0.39, p = 8 × 10‐5).Conclusions: We identified six anterior uveitis associated loci including three novel loci with genome‐wide significance. Our findings deepen our understanding of the genetic basis of anterior uveitis and the genetic connections between anterior uveitis and immune related disorders, providing a foundation for further research and potential therapeutic interventions.
GPT wars: Creating and detecting fake ophthalmology data sets with artificial intelligence
Authors: Taloni Andrea , Coco Giulia , Pellegrini Marco , Lucisano Andrea , Scalzo Giovanna Carnovale , Scorcia Vincenzo , Giannaccare Giuseppe 
Published: January 2025

Aims/Purpose: Recently, our group demonstrated how the Large Language Model GPT‐4 can fabricate fake ophthalmology data sets, designed to support false scientific evidence. The objectives of this study were: (1) to identify peculiar statistical patterns of AI‐generated data sets, (2) to attempt at enhancing the quality of fabricated data for eliminating any discernible mark of non‐authenticity, and (3) to develop a custom GPT trained to detect signs of fabrication.Methods: Three fictional studies were designed to compare treatment outcomes for a specific ocular disease. First, prompts were submitted to the custom GPT “Data Analyst” to produce 12 “unrefined” fake data sets for the three studies. Then, the custom GPT “Fake Data Creator” was developed to generate 12 “refined” fake data sets, specifically designed to evade authenticity checks. Forensic analysis was performed on all data sets using IBM SPSS. Finally, the custom GPT “Fake Data Detector” (FDD) was developed to replicate the forensic analysis and assign 1 point for each sign of fabrication.Results: Forensic analysis of the unrefined fake data sets revealed numerous flaws, most notably: name/gender mismatch (n = 12), non‐uniform distribution (n = 11) and repetitive patterns of last digits (n = 7), absence of correlation between study variables (n = 12), and distribution shape anomalies (n = 11). In refined fake data sets, the forensic analysis did not reveal statistical flaws, except for distribution shape anomalies (n = 7). Overall, 5 refined fake data sets (41.7%) passed forensic analysis as authentic. The results of the statistical analyses performed by GPT FDD were identical to those obtained with IBM SPSS, with a mean of 9.67 ± 2.13 (95% IC 8.46‐10.87) and 1.00 ± 1.00 (95% IC 0.43‐1.57) points respectively allocated to unrefined and refined data sets.Conclusions: Sufficiently sophisticated custom GPTs can perform complex statistical tasks and may be abused to fabricate seemingly authentic ophthalmology data sets, passing forensic analysis.References
Taloni A, Scorcia V, Giannaccare G. Large Language Model Advanced Data Analysis Abuse to Create a Fake Data Set in Medical Research. JAMA Ophthalmol. 2023; 141(12): 1174–1175. doi: 10.1001/jamaophthalmol.2023.5162
Retinal ischemia: Therapeutic effects and mechanisms of paeoniflorin
Authors: Chao Winsdor Wen‐Jin , Chao Howard Wen‐Haur , Chao Hsiao‐Ming 
Published: January 2025

Aims/Purpose: Retinal ischemia‐associated ocular disorders are vision threatening. The aim of the present study is to assess the potential of paeoniflorin in alleviating retinal ischemic injury and to uncover the mechanisms involved.Methods: Cultured retinal cells were subjected to oxygen glucose deprivation (OGD; N2/CO2/O2: 95 %/5 %/1 %) with pre‐OGD (1h) administration of paeoniflorin (0.25/0.5 mM). The cell viability were evaluated by MTT assay.High intraocular pressure‐induced retinal ischemia (I) was established by raising IOP to 120 mmHg for 60 minutes followed by reperfusion (R) for 7 days in an ischemic eye in a Wistar rat. The physiological effects of the retina were evaluated by electrophysiology and fluorogold retrograde labelling RGCs. The protein levels of angiopoietin, pyruvate kinase M2 (PKM2), Wnt3a and β‐catenin were assessed by Western blotting.Results: Pre‐ischemic administration of paeoniflorin dose‐dependently (less effect at 0.25 mM) and significantly (p < 0.05; 0.5 mM) alleviated OGD induced significant (p < 0.001) decrease in RGC‐5 cell viability. Furthermore, pre‐ischemic administration of paeoniflorin dose‐dependently (less effect at 0.25 mM) and significantly (p < 0.05/p < 0.001; 0.5 mM) attenuated ischemia‐induced significant (p < 0.001/p < 0.05) reduction in ERG b‐wave amplitude/RGC cell number.Compared to eyes treated with vehicle, paeoniflorin (p < 0.05/p < 0.01/p < 0.05; 0.5 mM) seemed to protect against retinal ischemia by regulating angiopoietin, β‐catenin, WNT and PKM2 expression.Conclusions: The treatment with paeoniflorin is able to effectively reduce retinal ischemia by affecting angiopoietin, β‐catenin, WNT and PKM2 biomarkers.References
Windsor Wen‐Jin Chao, Howard Wen‐Haur Chao, Hung‐Fu Lee, Hsiao‐Ming Chao. The Effect of S‐Allyl L‐Cysteine on Retinal Ischemia: The Contributions of MCP‐1 and PKM2 in the Underlying Medicinal Properties. Int J Mol Sci. 2024 Jan 22; 25(2): 1349.
Chao HM, Osborne NN. Topically applied clonidine protects the rat retina from ischaemia/reperfusion by stimulating alpha(2)‐adrenoceptors and not by an action on imidazoline receptors. Brain Res. 2001 Jun 15; 904(1): 126‐36.
Iris, ciliary body and choroid metastasis from salivary duct carcinoma of parotid gland: Case report
Authors: Lobo Vasco , Monteiro Bernardo , Whitfield Rafael , Alvim Cecília , Pinto Filomena 
Published: January 2025

Aims/Purpose: Report a rare case of salivary duct carcinoma (SDC) of the left parotid gland metastatic to the iris, ciliary body and choroid.Methods: Data collection from clinical records.Results: A 70‐year‐old woman with a history of stage IV SDC of the left parotid (pT2 cNx cM1) diagnosed in November 2020, treated with palliative chemotherapy with cisplatin since October 2021, presented to Ophthalmology department in Hospital de Santa Maria, Lisbon, Portugal in November 2021 due to a solid lesion in the anterior chamber and progressive declining vision of the left eye. Ultrasound biomicroscopy showed a 6.7x12.0x4.7mm cupuliform mass in the iris, with high reflectivity and heterogeneous internal structure, involving the ciliary body and displacing posteriorly the intraocular lens. Posterior segment ultrasound revealed a solid cupuliform lesion of the ocular wall, approximately 3 mm thick, with high reflectivity and a heterogeneous structure. The ultrasound characteristics were consistent with secondary intraocular lesion of the iris, ciliary body and choroid and orbital MRI supported this diagnosis. In December 2021, due to global systemic progression after three cycles of cisplatin, the patient was switched to 9 cycles of doxorubicin+cyclophosphamide, with apparent stabilization of the systemic disease. In September 2022, there was a significant reduction in the size of the iris metastasis, even though the posterior segment ultrasound demonstrated progression of the intraocular disease, now with multifocal choroidal metastasis in both eyes, associated with exudative detachment of the retina in the right eye. Due to multiple cerebral metastasis, the patient underwent holocranial radiotherapy 30 Gy/10 fractions, with ophthalmological findings being unchanged in October 2022. She underwent two more cycles of paclitaxel, which was suspended due to clinical deterioration. The patient died in December 2022, with a survival of 25 months (13 months since diagnosis of intraocular metastases).Conclusions: The case reports a rare presentation of metastatic SDC to the eye.
Sentinel lymph node biopsy in a case of conjunctival melanoma
Authors: Rius Nuria , Ciobotaru Olga , Sopeña‐Pinilla Maria , Merino Jacobo Yañez , Funes Elisa , Munuera Inés , Santana Carlos , Navarro Damián García , Monleón Claudia Hernández‐Barahona , Ila Carmen 
Published: January 2025

Aims/Purpose: To present the first case of a sentinel lymph node biopsy for ocular melanoma in our hospital.Methods: We present the clinical case of a patient treated in our unit for conjunctival melanoma in the right eye. An excision of the conjunctival lesion with safety margins was performed, followed by the application of mitomycin C, cryotherapy, and placement of an amniotic membrane. The histopathological diagnosis confirmed an invasive nodular melanoma pT2aNxMx Breslow 1.5 mm with clear margins. Subsequently, three weekly cycles of 0.04% mitomycin C eye drops were administered. The extension study ruled out disease dissemination.Results: The case was presented to the Melanoma Committee, where it was decided to perform a sentinel lymph node biopsy. The procedure was carried out without evidence of metastasis in the analyzed lymph node (0/1), confirmed by histological examination with Hematoxylin‐eosin and immunohistochemistry with HMB45 and SOX10. This is the first case of a sentinel lymph node biopsy for ocular melanoma in our hospital. Thanks to close collaboration between the Ophthalmology and Radiology departments, the procedure was performed correctly.Currently, the patient continues with successive follow‐ups by Ophthalmology, showing good evolution. This case highlights the importance of interdisciplinary collaboration in the management of conjunctival melanoma and the efficacy of adjuvant treatments, such as mitomycin C, in preventing local recurrencesConclusions: Current literature supports the performance of sentinel lymph node biopsy in cases of conjunctival melanoma due to its ability to detect micrometastases and guide therapeutic management, thus improving patient prognosis. It is a valuable tool in the accurate staging of conjunctival melanoma, allowing for earlier intervention in case of lymphatic dissemination and potentially improving survival rates.
Dexmedetomidine as a therapeutic approach for retinal degeneration
Authors: Kalatanova Anna , Leinonen Henri 
Published: January 2025

Aims/Purpose: Gene therapy shows great promise in multiple types inherited retinal degenerations (IRDs); however, the genetic diversity of these diseases also requires mutation‐agnostic therapeutic approaches to be developed. This study investigates the potential of dexmedetomidine, an alpha‐2 agonist, as a neuroprotectant for IRDs.Methods: We investigated the efficacy of dexmedetomidine in two different in vivo paradigms: acute light‐induced retinal degeneration (LIRD), and the rd10 mouse model of RP. The rd10 mouse is a highly translationally relevant RP model and it carries a spontaneous mutation in the Pde6b gene, like that found in human patients. LIRD was induced to BALB/c mice that received dexmedetomidine (0.01‐0.03 mg/kg) or vehicle intraperitoneally 30‐min before light exposure (15 kLux for 30 mins). In rd10 mice, dietary dexmedetomidine (1 mg/100g in standard chow) administration between postnatal ages 30 and 51 days was used. Optical coherence tomography (OCT) and electroretinography (ERG) were used to evaluate drug efficacy in both paradigms.Results: In the LIRD model, dexmedetomidine 0.03 mg/kg led to near‐complete retina protection. With this dose, ERG a‐waves were comparable to baseline levels. Instead, in vehicle‐treated mice, 93% decrease in a‐wave amplitude compared to baseline was found. OCT imaging revealed an 81% decrease in the outer nuclear layer in the vehicle group, whereas it was nearly normal in mice treated with 0.03 mg/kg dexmedetomidine. In rd10 mice, dietary dexmedetomidine improved ERG responses; by approximately 53% at the highest intensity stimulus when measured at P51.Conclusions: These promising results with systemic drug delivery prompts further research into developing an ocular administration method for dexmedetomidine. Locally administered neuroprotectants could lead to therapeutic approaches in IRDs.
Longitudinal changes in the inner retina in long‐term evolution type 1 diabetic patients without diabetic retinopathy evaluated by optical coherence tomography
Authors: Fernández‐Espinosa Guisela , Martínez‐López Alba , Orduna‐Hospital Elvira , Sopeña‐Pinilla María , Boned‐Murillo Ana , Arias‐Álvarez Marta , Díaz‐Barreda María Dolores , Sánchez‐Cano Ana , Pinilla Isabel 
Published: January 2025

Aims/Purpose: To assess longitudinal changes in the thickness of the inner retinal layers in long‐term evolution type 1 diabetes mellitus (DM1) patients without signs of diabetic retinopathy (DR), evaluated using optical coherence tomography (OCT) at three time points over 14 years.Methods: A prospective longitudinal study was conducted, including 33 eyes of 33 DM1 patients with over 24 years of disease evolution and good glycaemic control (HbA1c). Patients had been previously evaluated in 2009 and 2017. The total sample in 2023 that did not develop DR consisted of 33 eyes. A complete ophthalmological examination was performed, including assessment of total retinal thickness and inner retinal layers (ganglion cell layer (GCL), and retinal nerve fiber layer (RNFL)), using Spectralis spectral‐domain OCT (SD‐OCT).Results: After evaluating the image quality, 3 eyes were excluded. The final sample consisted of 30 DM1 eyes, with a mean age of 41.47 ± 9.63 years and a disease evolution of 28.60 ± 7.87 years. There was a statistically significant decline in visual acuity (VA). A decrease in total retinal thickness in all areas except the temporal external (TE); the GCL showed a decrease in all areas except the TE and the nasal external (NE): RNFL exhibited an increased thickness of the temporal internal (TI), superior external (SE), and inferior external (IE) with reduced thickness in the inferior internal (II) area. There was a negative correlation between HbA1c levels and the average thickness of both the RNFL and GCL.Conclusions: After 14 years of follow‐up, DM1 patients without DR showed a decrease in the total retina thickness and the GCL layer thickness, with less conclusive changes in the RNFL thickness. VA diminished during the disease despite maintaining good glycaemic control. Glycaemic control was related to a decrease in the thickness of the studied layers.
Clinical patter of uveitis masquerade syndrome: A fifteen‐year retrospective case series
Authors: Kammoun Nour , Abroug Nesrine , Wijdene Nabi , Eahma Bel Hadj , Bechir Jelliti , Khairallah Moncef 
Published: January 2025

Aims/Purpose: To describe the clinical pattern of uveitis masquerade syndrome (UMS).Methods: A retrospective descriptive monocentric study between January 01, 2007 and December 31, 2022.Results: Over a 15‐year period, we identified 89 cases (124 eyes) among 3,000 cases of uveitis, with a final diagnosis of UMS, i.e. a rate of 3%. Thirty cases (33.7%) were neoplastic UMS and 59 cases (66.3%) were nonneoplastic UMS. The mean age was 40 ± 19 years (extremes; 7 – 80 years), including 43 men (48.3%) and 46 women (51.7%). Ocular involvement was unilateral in 61% of cases. Time to diagnosis ranged from 1 day to 10 years, with an average of 4.7 months. Etiologies of neoplastic UMS were malignant tumors (19 cases; 63%), including vitreoretinal lymphoma (7 cases; 37%), uveal melanoma (6 cases; 31%), ocular metastases (5 cases; 26%) and one case of leukemia, benign tumours (8 cases; 26.6%) and paraneoplastic syndromes (3 cases; 10%). Hereditary retinal dystrophies were the main etiology of non neoplastic UMS (17 cases; 28.8%), followed by rhegmatogenous retinal detachment (7 cases; 11.8%). Prior to the final diagnosis, a therapeutic mistake was found in 19% of cases including prescribing topical and/or systemic corticosteroids and immunosppressive therapy.Conclusions: In our series, vitreoretinal lymphoma and hereditary retinal dystrophies were the main etiologies of UMS. Meticulous analysis of the patient's history and ocular clinical and imaging findings is mandatory to avoid diagnostic and therapeutic mistakes