bluuebunny/crossref_metadata_2025_split huggingface dataset:
Joubert syndrome: A case report
Authors: Sopeña‐Pinilla Maria , Ciubotaru Olga , Bestué Ana Pueyo , Bestué Ignacio Pueyo , Fernandez‐Velasco Diego , Gracia Victor Mallen , Cervilla Jose Javier Bermudez , Merino Andres Biescas , Rius Nuria , Raez Carmen Ila 
Published: January 2025

Aims/Purpose: To report the case of a 13‐year‐old girl with Joubert syndrome presenting with a retinal detachment, emphasizing the importance of early recognition and intervention in preventing permanent vision loss.Methods: This is a retrospective case report.Results: A 13‐year‐old female with a known diagnosis of Joubert syndrome presented to the emergency department with acute visual disturbances and a significant decrease in visual acuity. Fundoscopic examination revealed a retinal detachment in the left eye, suspected to be of tractional origin or associated with coloboma‐related leakage. Diagnostic imaging included optical coherence tomography (OCT). The patient underwent a 360° scleral buckle, cryoretinopexy, and transscleral drainage of subretinal fluid.Examination confirmed the presence of a tractional retinal detachment with potential contribution from coloboma‐related leakage. Surgical intervention was successful, resulting in the reattachment of the retina and stabilization of the patient's vision. Post‐operative follow‐up indicated satisfactory recovery and maintenance of retinal attachment.Conclusions: This case highlights the necessity for healthcare providers to be vigilant for ocular complications in patients with Joubert syndrome. Although retinal detachment is uncommon in these patients, its prompt identification and treatment are critical to preserving vision. The successful outcome underscores the importance of comprehensive ophthalmologic assessment and timely management. Further research into the ocular manifestations of Joubert syndrome and the development of monitoring guidelines is needed to ensure timely intervention and optimal patient outcomes.
Digital devices and the myopia epidemic in children: Short‐ and long‐term effects of use and strategies to manage ocular symptoms
Authors: Monleón Claudia Hernández‐Barahona , Navarro Damián García , Plata Carlos Santana , Rufas Inés Munuera , Pérez Elisa Funes , Merino Jacobo Yañez , Sopeña‐Pinilla Maria , Ciubotaru Olga , Bestué Ana Pueyo , Pueyo‐Bestué Ignacio 
Published: January 2025

Purpose: The prevalence of myopia is increasing around the world, stimulating interest in methods to slow its progression. The primary justification for slowing myopia progression is to reduce the risk of vision loss through sight‐threatening ocular pathologic features in later life. By 2050 over 5 billion individuals 50% of the world population will be myopic according to the estimations.Methods: Literature searches in the PubMed Cochrane Library, and clinical trial databases with no date restrictions, but limited to articles published in English, Spanish and French, were published last on May 1, 2023. The searches yielded 215 citations, 112 of which were reviewed in full text by the first author. Ten articles met the criteria for inclusion (randomized or nonrandomized comparative studies, or case series with a minimum 400 patients; evaluating awareness of increasing myopia prevalence, perceived efficacy and adoption of available strategies).Results: The 10 included studies consisted of 3 randomized clinical trials, 3 nonrandomized comparative studies, 3 case series, and 1 global survey of clinical management. 6 papers investigated the association between screen use and myopia in the context of other near work activities. The combined effect of near work showed an increased ratio for myopia development. 2 papers focused on evaluate the evidence for association between time outdoors exposure and the reduction risk of onset of myopia. Finally, 2 papers evaluated the awareness of increasing myopia and its consequences showing that each additional 1 D of myopia is associated with a 58%, 20%, 21%, and 30% increase in the risk of myopic maculopathy, open‐angle glaucoma, posterior subcapsular cataract, and retinal detachment, respectively.Conclusions: From our results, we can conclude that within our samples of children studies, increased screen use is associated with myopia development. The effect of combined near work was decreased by outdoor exposure. The risks of digital devices on myopia and the protection by outdoor exposure should become widely known. Further advocacy and collaboration with policy makers, health regulatory bodies, and industry is needed to enhance accessibility and affordability of treatment options to address the growing health burden of the myopia epidemic.
Spontaneus haematoma in lower rectus muscle
Authors: Ortega Aranzazu Caro , de Lara Sánchez Sofia Sánchez , Prades Gemma Ortega , Casado Francisco Calleja , García Amparo Lanuza 
Published: January 2025

Aims/Purpose: Spontaneous orbital haematomas are rare, especially in adults. They cause proptosis and often diplopia and limited motility of the extraocular muscles. Diagnosis is made by radiological tests.Methods: A 35‐year‐old woman attended the emergency department for proptosis of the left eye (LE), sudden headache and vomiting. She had a history of migraines, without previous trauma or vascular risk factors. Examination revealed an inferior left orbital haematoma, slight exophthalmos, motility deficit in supraversion of the LE and vertical diplopia. The rest of the ophthalmological and analytical examination was unaltered.The MRI showed a lesion in the left IR, very posterior, localised and with a hyperintense rim that also affected the medial rectus.Results: It is decided to treat with rest and systemic anti‐inflammatory drugs. After one week, there was still mild diplopia at supraversion, no exophthalmos, no pain on eye movements, and a slight haematoma was seen in the left lower orbit. A new MRI was performed one month after the episode and the lesion had returned.Conclusions: Orbital haematoma is a rare entity and may be related to the Valsalva manoeuvre. It is important to investigate history of injury, vascular risk factors, the use of antiplatelet drugs; and also to rule out possible underlying vascular malformations or additional injuries by radiological tests.Idiopathic spontaneous haematoma is diagnosed in the absence of such a history. Haematomas have been described in the extraocular muscles, most of which are located in the IR, as in our patient. Radiological study is decisive for diagnosis and control. These lesions generally regress spontaneously, although there is the possibility of surgical intervention if the pathology persists.References
Chan, H. H. L., Hardy, T. G., & McNab, A. A. (2019). Spontaneous Orbital Hemorrhage Related to the Extraocular Muscles. Ophthalmic plastic and reconstructive surgery, 35(3), 256–261.
Association of strabismus and congenital cataract in a 2‐year‐old girl
Authors: de la Torre Marta Vela , Shadvar Samira Ketabi , Fernández Jessica Palomares , Muñoz Noelia Montaña , González Olga Martínez , Fiz Jesús Pérez , de Andrade Pérez Marina Pardo , Egusquiza Pablo Ysart , González Miguel Herrero 
Published: January 2025

Aims/Purpose: The objective of this study is to evaluate the clinical case of a 2‐year‐old girl referred from pediatrics due to an asymmetric Hirschberg test, analyze the diagnostic findings, and describe the management of her ophthalmological condition.Methods: A detailed clinical evaluation was conducted, including family history, ophthalmologic exams, imaging studies, and genetic tests. The girl was monitored from 8 months to 24 months of age. Eye movement exams, cover test, autorefractometry under cycloplegia, biomicroscopy, metabolic studies, and genetic testing were performed.Results: At 8 months, the patient presented with orthotropia and symmetrical Hirschberg, with marked epicanthus and a normal fundus. At 14 months, the cover test revealed 15° exotropia with alternating dominance. Autorefractometry under cycloplegia showed myopia and astigmatism: right eye ‐2.75 ‐1.50 at 80°, left eye ‐2.00 ‐1.50 at 110°, and she was prescribed glasses. At 15 months, biomicroscopy showed punctate opacities in the lens. The metabolic study was normal, but genetic testing identified a probably pathogenic variant in the MAF gene associated with type 21 cataract. Currently, exotropia is controlled with glasses. The best corrected binocular visual acuity is 0.5.Conclusions: The management of this patient underscores the importance of comprehensive evaluation and multidisciplinary follow‐up in cases of strabismus and congenital cataract with a family history. In this case, rare associations such as congenital cataracts associated with the MAF gene, myopia, and exotropia are found.
Clinical and multimodal imaging findings in tilted disc syndrome
Authors: Aoun Safa Ben , Ferchichi Molka , Maamouri Rym , Fendouli Ines , Selmi Slim , Cheour Monia 
Published: January 2025

Aims/Purpose: To describe the clinical and multimodal imaging findings in tilted disc syndrome (TDS).Methods: A retrospective observational case series including 14 eyes of 7 patients diagnosed with TDS. All patients had complete ophthalmological examination, including fundus photographs, swept‐source optical coherence tomography (SS‐OCT), and automated perimetry. In addition, optical coherence tomography angiography (OCTA) information was acquired for 4 eyes.Results: The mean age was 48.71 ± 16.10 years. The mean refraction was ‐3.92 ± 2.51 diopters, with 85.7% (7/8) of patients being myopic. Disc pallor and blurring of optic margins were both noted in 57.1% of the cases. Visual field (VF) defects were found in 71.4% of the cases, including blind spot enlargement (42.9%), scotomas (14.3%), and a combination of both (14.3%). On SS‐OCT, peripapillary pigment epithelial detachments were found in 85.7% of the cases. The mean optic nerve head area was 1.78 ± 0.35 mm2. The mean horizontal and vertical cup‐to‐disc ratios were 0.26 ± 0.19 and 0.28 ± 0.26, respectively. The peripapillary retinal nerve fibers layer (pRNFL) was thickened in 5/14 eyes (35.7%) and thinned in 7/14 eyes (50%). All eyes with blurred disc margins had thickened pRNFL, and all eyes with thinned pRNFL had VF defects. Thickening was exclusively located in the nasal and inferior sectors, while thinning was more predominant in the superior and temporal sectors. OCT‐A showed crowded optic nerve heads with a dense, well‐defined microvascular network.Conclusions: TDS is associated with myopia, disc pallor, blurring of disc margins, and various VF defects. Eyes with TDS have small disc areas and cup‐to‐disc ratios. The pRNFL thickness tends to increase in the inferior and nasal sectors and decrease in the superior and temporal sectors. More studies with larger patient cohorts are needed to provide detailed insights into the structural and vascular anomalies associated with TDS.
Impact of time to idebenone initiation on visual acuity in leber hereditary optic neuropathy: Post hoc analysis of the leros study
Authors: Carelli Valerio , Yu‐Wai‐Man Patrick , Llòria Xavier , Silva Magda Joana , Klopstock Thomas 
Published: January 2025

Aims/Purpose: It is not yet established whether time of idebenone treatment initiation from symptom onset (Ti) impacts the clinical outcome of patients with Leber hereditary optic neuropathy (LHON). LEROS, a Phase IV, open‐label, international, natural‐history controlled study (NCT02774005), assessed the long‐term efficacy of idebenone in the treatment of LHON.1 In this post‐hoc analysis of LEROS study data, we report visual acuity (VA) endpoints by Ti.Methods: VA endpoints at last visit were assessed as previously described, in idebenone‐treated eyes from the LEROS study with an observation time of 12–24 months (m) and a m.11778G > A mitochondrial DNA mutation.1 In this post‐hoc analysis, eyes were stratified by Ti. No statistical comparisons were performed.Results: Median [range, n] age at baseline was similar regardless of Ti (0–3m: 32.2y [12.6–49.6, 10]; 3–6m: 36.2y [12.6–62.5, 21]; 6–9m: 37.4y [12.6–64.5, 20]; 9–12m: 33.0y [19.5–49.6, 19]; 12–24m: 32.4y [12.1–60.2, 44]; > 24m: 34.7y [12.4–62.4, 61]). VA endpoints at last visit were also similar regardless of Ti; however, minor differences were observed. Eyes that were 3–6m from symptom onset at treatment initiation had the best median [interquartile range (IQR)] VA at last visit (0–3m: 1.27 [0.40–1.68]; 3–6m: 1.22 [0.30–1.80]; 6–9m: 1.40 [1.02–1.56]; 9–12m: 1.52 [0.98–1.60]; 12–24m: 1.39 [0.58–1.74]; > 24m: 1.32 [0.90–1.62]) and the best median [IQR] VA change from last visit to baseline (0–3m: 0.08 [‐0.20–0.62]; 3–6m: ‐0.20 [‐0.46–0.10]; 6–9m: ‐0.11 [‐0.19–0.00]; 9–12m: ‐0.10 [‐0.48– ‐0.04]; 12–24m: ‐0.09 [‐0.47–0.00]; > 24m: ‐0.06 [‐0.18–0.00]).Conclusions: LEROS study data provides important insights into the impact of time of treatment initiation on VA outcome. However, given the small number of eyes and large variation in the data, caution must be taken in interpreting these results.References
Yu‐Wai‐Man P et al. Cell Rep Med. 2024;5:101437.
The retinal structure and visual function in asymptomatic individuals carrying leber hereditary optic neuropathy mutation
Authors: Hedström Johan , Engvall Martin , Williams Pete A. , Nilsson Maria , Venkataraman Abinaya Priya 
Published: January 2025

Purpose: To evaluate the retinal structure and visual function in asymptomatic subjects with Leber hereditary optic neuropathy (LHON) mutation. We evaluated macular ganglion cell layer and inner plexiform layer (GCL+IPL) and peripapillary retinal nerve fiber layer (RNFL) and assessed high and low contrast visual acuity and visual field sensitivity.Methods: A total of 28 asymptomatic carriers (37±20 years), 53.5% females, were enrolled. 100% and 13% contrast visual acuity, visual field sensitivity, and Optic coherence tomography (OCT) were performed. Visual field was evaluated with Humphrey Field Analyzer 3 using SITA 24‐2 strategy with white‐on‐white size III stimuli. OCT imaging was performed with a Zeiss Cirrus 5000 HD‐OCT using macular cube 512x128 scan, and optic disc cube 200x200 scan. The thickness and visual function metrics obtained were analyzed to investigate within‐subject differences. For each subject, the eyes were divided into best and worst based on the visual function parameters and as thickest and thinnest based on the structural measurements.Results: The mean difference between best and worst eye for 100% and 13% visual acuity were 0.03 ± 0.05 (range: 0 to 0.23) and 0.05 ± 0.06 logMAR (range: 0 to 0.18) respectively. For the mean deviation from visual field measurements varied by 1.11 ± 0.85 dB (range: 0.10 to 3.19) between the eyes. The mean difference between thickest and thinnest eye for GCL+IPL and RNFL were 1.48 ± 1.45 μm (range: 0 to 6) and 3.22 ± 2.85 μm (range: 0 to 9) respectively. All the visual function metrics and the structural measurements displayed small but statistically significant inter‐eye differences (p < .005).Conclusions: In asymptomatic LHON carriers inter‐eye differences were found in structural and functional measurements. OCT imaging and precise visual function test may provide useful information about disease conversion risk in asymptomatic carriers.
From darkness to light: Reversible bitemporal hemianopia
Authors: de Lázaro Alejandra Antón Guzmán , Antón Maria Teresa Cedazo , Martín Sergio Pernas , Outeiriño Patricia Roig , Hernández Eduardo Conesa , Carretero Manuel Moriche 
Published: January 2025

Aims/Purpose: The purpose of this case study is to describe the diagnostic process, surgical treatment, and subsequent recovery in a patient who was being monitored for strabismus due to previous thyroid orbitopathy. This case aims to underscore the importance of early diagnosis and timely surgical intervention in the resolution of visual impairments associated with pituitary adenomas.Methods: A 53‐year‐old female, under follow‐up for strabismus due to previous thyroid orbitopathy, was noted to have limitations in certain eye movements and diplopia during a routine consultation. Suspecting an exacerbation of orbitopathy, a computed tomography (CT) scan was ordered. The CT revealed a sellar and suprasellar mass, an incidentaloma not seen in a CT performed five years earlier. Visual field testing was then conducted, revealing bitemporal hemianopia. Further evaluation with magnetic resonance imaging (MRI) was performed to better characterize the lesion. The patient was subsequently scheduled for transsphenoidal surgery to excise the tumor.Results: The patient underwent successful transsphenoidal resection of the pituitary adenoma. Postoperative assessments, including regular visual field testing and MRI scans, indicated a gradual but complete restoration of the visual fields over a three‐month period. Follow‐up showed no recurrence of the tumor, and the patient remained free of visual symptoms.Conclusions: This case illustrates that bitemporal hemianopia caused by pituitary adenomas can be effectively reversed through surgical intervention. Early identification and prompt surgical treatment are essential to prevent permanent visual deficits and ensure full recovery of visual function. This case also highlights the importance of a multidisciplinary approach in the management of complex neuro‐ophthalmological conditions.
Topical insulin as a treatment for refractory persistent epithelial defects
Authors: Arias‐García Elena , López Ester Fernández , Revert María José Roig , Martinez Cristina Peris 
Published: January 2025

Aims/Purpose: To present a case series of patients with persistent epithelial defects (PED) of different etiologies treated with topical insulin after failure of conventional treatments and evaluate its efficacy.Methods: We reviewed the clinical history of 17 patients with PED that were treated with topical insulin since 2020, refractory to conventional treatments.Results: Of the 17 patients with PED that we reviewed, 16 of them achieved reepithelization with topical insulin after failure of conventional treatment. Reepithelization mean time was 29 days (range 6‐60 days). Recurrence of the epithelial defect was observed in 2 patients. None of the patients that achieved epithelization needed extra treatment after topical insulin in order to solve the PED. No adverse effects were reported with the use of topical insuline and it was well tolerated.Conclusions: Topical insulin is a very effective treatment for reepithelization of refractory persistent epithelial defects with good tolerance, no adverse effects, and good availability and cost‐effectiveness in comparison to other treatments.References
Aynsley TR. THE USE OF INSULIN IN THE TREATMENT OF CORNEAL ULCERS. Br J Ophthalmol. 1945 Jul;29(7):361‐3. doi: 10.1136/bjo.29.7.361. PMID: 18170130; PMCID: PMC513802.
Zagon IS et al. Use of topical insulin to normalize corneal epithelial healing in diabetes mellitus. Arch Ophthalmol. 2007 Aug;125(8):1082‐8. doi: 10.1001/archopht.125.8.1082. PMID: 17698755.
Diaz‐Valle D et al. Topical insulin for refractory persistent corneal epithelial defects. Eur J Ophthalmol. 2021 Sep;31(5):2280‐2286. doi: 10.1177/1120672120958307. Epub 2020 Sep 21. PMID: 32951459.
Diaz‐Valle Det al. Comparison of the efficacy of topical insulin with autologous serum eye drops in persistent epithelial defects of the cornea. Acta Ophthalmol. 2022 Jun;100(4):e912‐e919. doi: 10.1111/aos.14997. Epub 2021 Aug 18. PMID: 34407296.
Wang AL et al. Use of Topical Insulin to Treat Refractory Neurotrophic Corneal Ulcers. Cornea. PMID: 28742619; PMCID: PMC5633504.
NaPier E et al. Neurotrophic keratopathy/ current challenges and future prospects. Ann Med.. PMID/ 35243932; PMCID/ PMC8903790.
Comparison of asymmetric offset versus pupil centered ablation in refractive surgery: A randomized, double‐masked clinical trial
Authors: Rafati Shokoofeh , Hashemi Hassan , Pakbin Mojgan , Hashemi Alireza , Aghamirsalim Mohammadreza , Khabazkhoob Mehdi 
Published: January 2025

Purpose: To compare the visual and optical outcomes after femtosecond laser in situ keratomileusis (FS‐LASIK) using an aberration neutral profile with asymmetric offset and pupil center treatments.Methods: In this randomized double‐blind clinical trial study, 48 (24 cases) and 38 eyes (19 cases) underwent hyperopic astigmatism and myopic astigmatism LASIK. One eye of each individual was randomly assigned to asymmetric offset centration and the fellow eye underwent the pupil center method. The clinical outcomes including uncorrected distance visual acuity, corrected distance visual acuity, safety and efficacy indexes, subjective spherical equivalent and corneal high‐order aberrations were measured at baseline and 6 months postoperatively.Results: In the myopic group, the mean preoperative spherical equivalent and astigmatism were ‐4.12 ± 0.87 (‐2.88 to ‐6.00) diopters and ‐0.88 ± 0.79 (0 to ‐2.75) diopters, respectively. In the hyperopic group, the mean preoperative spherical equivalent and astigmatism were +0.93 ± 0.59 (‐0.25 to +2.25) diopters and ‐0.73 ± 1.00 (0 to ‐4.25) diopters, respectively. At 6 months postoperatively, the safety and efficacy indexes were similar for centration in myopic and hyperopic LASIK groups. In the myopic group, significant changes were found in horizontal trefoil (p = 0.041) and oblique trefoil (p = 0.031) in favor of asymmetric offset centration treatment.Conclusions: Femtosecond‐LASIK is a safe and efficacious procedure for treatment of myopic and hyperopic astigmatism. Asymmetric offset and pupil center approaches provide similar visual and refractive outcomes. Myopic astigmatism LASIK with asymmetric offset centration leads to slightly better corneal aberration outcomes.
Topographic determinants of anterior chamber angle narrowing in patients with keratoconus
Authors: Nabovati Payam , Soltan‐Dehghan Hamed , Farzaneh Abdollah , Khabazkhoob Mehdi 
Published: January 2025

Purpose: To identify topographic determinants of the anterior chamber angle in a sample of patients with keratoconus.Methods: Two hundred patients who visited a tertiary eye hospital and were diagnosed with keratoconus, were recruited for this study. First, complete ocular examinations were performed for all patients, including measurement of uncorrected distance visual acuity, objective and subjective refraction, and slit‐lamp biomicroscopy. Then, all study participants underwent corneal imaging by the Pentacam rotating Scheimpflug imaging system. The keratoconus was diagnosed based on distorted keratometric mires, scissoring of retinoscopic reflex, abnormal corneal topography (inferior‐superior asymmetry, focal or inferior steepening, or a bow‐tie pattern with skewed radial axes > 21°) consistent with keratoconus as well as the presence of at least one keratoconus biomicroscopic sign.Results: The mean age of study participants was 32.40± 8.52 years (15‐60 years) and 69.5% of them were male. No statistically significant difference was found in the anterior chamber angle between males and females (p‐value = 0.447). There was a statistically significant inverse correlation between anterior chamber angle and age (r = ‐0.262, p‐value < 0.001). The mean anterior chamber angle was significantly different among different groups of cone morphology; patients with nipple cone had the lowest mean anterior chamber angle (p‐value = 0.001). Moreover, there was a statistically significant difference in the mean anterior chamber angle among different groups of cone location; the lowest mean anterior chamber angle belonged to patients with central cones (p < 0.001). Anterior and posterior Q‐values were significantly directly correlated with anterior chamber angle (anterior Q: r = 0.122, p‐value = 0.014, posterior Q: r = 0.192, p‐value < 0.001).Conclusions: Keratoconus patients with nipple and central cones and more negative Q‐values were more prone to anterior chamber angle narrowing. It is recommended that the risk of angle closure be taken into account in this group of patients for diagnostic and treatment procedures.