bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spontaneous lens subluxation into anterior chamber. Importance of an early management
Authors: El Bakkali Ismael Bakkali , Arias Pablo Cisneros , El Bakkali Mohamed Bakkali , Rivasés Guillermo Pérez , de Rivas Marta Orejudo , Murillo Ana Boned , Núñez Moscarda Eva Josefina , Díaz Barreda María Dolores , Buey Sayas María Ángeles Del , Ascaso Puyuelo Francisco Javier 
Published: January 2022

AbstractPurposeTo describe the importance of applying an urgent protocol in cases of lens subluxation into the anterior chamber (AC) in order to diminish the risk of corneal decompensation.MethodsA 60‐year‐old man with a history of ocular trauma in his youth and pseudoexfoliation syndrome, presented pupillary block in the right eye 2 months after an accidental fall without ocular involvement. Visual acuity was 0.05 (decimal) and intraocular pressure was 55 mmHg. Slit lamp examination and anterior segment Optical Coherence Tomography showed a lens subluxation towards AC (lower portion) with endothelial contact and corneal edema. In funduscopy, an inferior giant tear with associated retinal detachment was observed.ResultsAfter treating ocular hypertension with hypotensive agents, Pars Plana Vitrectomy 25 Gauge + Lensectomy + Endolaser + SF6 Tamponading gas were performed, leaving the patient in aphakia for subsequent intraocular lens implantation surgery. Two months later, a substantial loss of endothelial cell count was observed (777 cells right eye VS 2223 cells left eye).ConclusionsIn this type of pathology, it is imperative to take immediate pharmacological, postural and surgical measures to reduce contact between the lens and the cornea, in order to minimize endothelial damage and improve the visual prognosis of these patients.BibliographyKe G, Zhou E, Zhu K, Wei Y, Wang Z, Jia Y, Wang S, Gu Y. Retinal break associated with traumatic lens dislocation or subluxation requiring vitrectomy. Graefes Arch Clin Exp Ophthalmol. 2020 Mar;258(3):693–697. doi: 10.1007/s00417‐019‐04530‐9. Epub 2019 Nov 28. PMID: 31781882.Salehi‐Had H, Turalba A. Management of traumatic crystalline lens subluxation and dislocation. Int Ophthalmol Clin. 2010 Winter;50(1):167–79. doi: 10.1097/IIO.0b013e3181c567de. PMID: 20057305.
Pharmacogenetics. Phenotype and genotype response to prostaglandin analogues and beta bloquers in a population of glaucoma patients
Authors: Toro Valeria Opazo , Milla Elena , Boquera Claudia , Llanas Berta , Brunet Mercè 
Published: January 2022

AbstractPurposeResearch about phenotypic and genotypic characteristics from a sample of glaucoma patients, and the pharmacological response to beta blockers (BB) and prostaglandin analogues (PGA).Methods139 eyes from 72 patients affected with glaucoma under BB and PGA treatment, were included in a prospective study. Single nucleotide polymorphism (SNP), were analyzed using real‐time PCR assays: prostaglandin F2α receptor (PTGFR) rs3766355 and 3753380; cytochrome‐p450‐2D6 (CYP2D6) rs16947 and 769258; beta 2 adrenergic receptor (ADBR 2) rs1042714. The other variables of the study were mean deviation (MD) of visual field, glaucoma surgery background, medication side effects, medical treatment, baseline and treated intraocular pressure (IOP).ResultsFrom a total of 139 eyes, 68 (48.9%) were right eyes. The main diagnosis was primary open angle glaucoma (66.2%). Additionally, 57(41%) eyes had some kind of glaucoma surgery and also 57(41%) eyes were under 3 or more medications (PGA+BB+other). Side effects were reported in 12 eyes (8.9%). IOP for baseline and treated patients were 26.55 ± 8.19 and 21.01 ± 5.54. The only significant differences were found among patient treated IOP in rs3766355 heterozygous(HT) 21.07 ± 0.607 mutated homozygous(HZ) 20.98 ± 0.639 and wildtype HZ 16 ± 1.08 (p = 0.031).The MD mean was −7.59 ± 8.63. Comparing the mean of MD in rs3766355 wildtype HZ −2 ± 2.2, HT −3.87 ± 4, mutated HZ −9.37 ± 9.51, significant differences were elucidated (p = 0.009). Likewise between MD and rs3753380 wildtype HZ −6.1 ± 8.67, HT −9.02 ± 8.63, and mutated HZ −9.51 ± 7.44 (p = 0.017).ConclusionsSignificant differences were found when comparing the MD in wildtype HZ, HT and mutated HZ carrying rs3766355 and rs3753380 to greater number of mutated alleles, greater defect in the visual field (MD). Likewise significant differences were found in the treated IOP in HZ and HT patients carrying a mutated rs3766355 allele with regard to HZ wildtype patients. Therefore, poor response to treatment may be associated with being a carrier of this mutated allele.
Optic disc pit: clinical and swept source optical coherence tomography characteristics
Authors: Maamouri Rym , Fehmy Nafaa , Wijdene Nabi , Meriem Ouederni , Hela Sassi , monia cheour 
Published: January 2022

AbstractPurposeTo study clinical and swept source optical coherence tomography (SS‐OCT) characteristics in eyes with optic disc pit (ODP).MethodsA retrospective case series of 7 eyes of 6 patients with ODP. All patients underwent a detailed ophthalmic examination, fundus photography and SS‐OCT scan of the macula and the optic disc.ResultsMean age of diagnosis of ODP was 23 years old. Two patients were males and four patients were females. ODP was bilateral in one patient. It was associated with other ocular abnormalities in one eye. Three patients complained from blurred vision and three patients were asymptomatic. Mean BCVA at presentation in eyes with ODP was +0.5 LogMar. ODP was identified in funds examination in four eyes. SS‐OCT identified abnormalities of the optic disc in all eyes and showed ODP maculopathy in six eyes.ConclusionsODP is a rare congenital anomaly of the optic disc that can be associated with maculopathy leading to progressive visual deterioration. SS‐OCT is a noninvasive tool for diagnoses of this disease specially when ODP is not obvious on fundoscopy, it allows the diagnosis of ODP maculopathy and may identify the mechanism of fluid passage from the optic disc pit to the macula.
Cerebral arteriovenous fistulas and orbital presentation. Diagnosis and treatment
Authors: Konstantinidou Eleni , Karydas George , Kavroulaki Dimitra 
Published: January 2022

AbstractPurposeTo present three cases of cerebral arteriovenous fistula with first clinical presentation from the orbit.MethodsThree women (50, 82 and 87 years old) experienced unilateral eyelid swelling with conjunctival chemosis, proptosis, diplopia, blurred vision and increased intraocular pressure. No known history of brain injury, peri‐ocular or sinus infection. They underwent blood tests for endocrine, autoimmune or infectious disease, Ear‐Nose‐Throat (ENT) assessment, orbital computed tomography (CT) and magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) and digital subtraction angiography (DSA).ResultsBlood tests and ENT assessment were negative, MRA did not show any related pathology. Orbital CT and MRI, with contrast agent, showed dilatation of the corresponding superior ophthalmic vein in all three patients. Two of them underwent DSA showing cerebral arteriovenous fistula (dural AVF) involving the cavernous sinus with retrograde blood flow to the ophthalmic vein. They underwent neurosurgical embolization of the fistula.ConclusionsCerebral arteriovenous fistulas involving the cavernous sinus may have only clinical presentation from the orbit and only imaging finding the dilatation of the corresponding ophthalmic vein in CT or MRI scans. In a case of unilateral proptosis and dilated conjunctival vessels, we should take into consideration the diagnosis of cerebral arteriovenous fistula.
Features of peripapillary hyperreflective ovoid mass‐like structures (PHOMS) according to their etiology
Authors: Hela Sassi , Aoun Safa Ben , Meriem Ouederni , Elyes Jerbi , Monia Cheour 
Published: January 2022

AbstractPurposeTo compare clinical and multimodal imaging findings in patients with PHOMS and correlate them with the etiology.MethodsA prospective descriptive comparative study carried out at the Ophthalmology Department of Habib Thameur University Hospital of Tunis between March 1st 2020 and March 30th 2021. Inclusion criteria were presence of blurred optic disc margins. Patients with optic disc drusen were excluded. All patients underwent complete ophthalmic examination, 24.2 Humphrey visual field (VF), fluorescein angiography (FA) and Swept‐Source Optical Coherence Tomography (SS‐OCT). Comparative Mann Whitney and chi‐squared tests were performed.ResultsSixteen eyes of 8 patients were eligible for the study. Mean age was 41.63 years +/‐ 10.49 years. Mean Best Corrected Visual Acuity was 0.23+‐0.27 log MAR. Main etiologies were sequelae of idiopathic intracranial hypertension (IIH) in 8 eyes (50%) and tilted disc syndrome (TDS) in 6 eyes (37.5%). VF defects were found in 12 eyes (75%). They included non‐specific scotomas (35.7%), blind spot enlargement (21.4%) and peripheral arcuate defect (12.5%). Peripapillary Retinal Nerve Fiber Layer (pRNFL) were thickened in 62.5% of eyes, altered in 31.3% and preserved in 6.3%. Inferior and nasal pRNFL showed no alterations in all eyes. SS‐OCT revealed hyperreflective lesions in all eyes, associated to posterior shadowing in 12 eyes (75%), hyperreflective dots in 10 eyes (62.5%) and peripapillary pigment epithelium detachment in 9 eyes (56.3%). There were no statistically significant differences in VF alterations between TDS and IIH group. Patients with IIH presented thicker pRNFL (p = 0.023) and were more likely to present annular leakage in FA (p = 0.012).ConclusionsPHOMS is a recently described entity that can be related to several etiologies such as IIH, TDS or ischemic optic nerve neuropathy. Both TDS and IIH can lead to visual field defects. IIH is more likely to give annular retention in FA and thickening of pRNFL.
Congenital aniridia and strabismus
Authors: Sordello Lucie , Belilita Ines , Bremond‐Gignac Dominique 
Published: January 2022

AbstractPurposeCongenital aniridia is a panocular disease with congenital absence of iris. Congenital Aniridia affects, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies. This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and foveal hypoplasia. PAX6 gene is mainly involved in the disease. We aim to understand the features of patients with congenital aniridia and strabismus from 1 yo to 30 yo, identifying the characteristics of oculomotor anomalies.MethodsWe analyse our 330 aniridia patients cohort in a retrospective study to identify patient with a good fixation and minimal cooperation. All patients underwent history of the disease, a complete ocular examination with ophthalmic exploration, orthoptic and had genetic molecular analysis.ResultsOf the 330 subjects cohort, 36 patients, 23 females and 13 males (range 1 yo to 30 yo) were identified and diagnosed with strabismus with mean age of 11.02 yo. A family history was reported in 55% of the patients. Marked nystagmus was present in 69% of the cases. Foveal hypoplasia from Thomas classification, was observed in all patients and Grade IV in 86% of cases. Esotropia was observed in 38.8%, exotropia in 36.1% and hypertropia in 5.5%. Associated congenital cataract is described and worsened the strabismus.ConclusionsOur study demonstrated a high frequency of strabismus in congenital aniridia. Marked nystagmus and associated congenital cataract worsened the strabismus treatment. In this rare disease, further studies are required for the follow‐up of aniridia patients in order to get better therapeutic options.
The use of computer‐aided design/computer‐aided manufacturing technologies in the treatment of endocrine orbitopathy: pro and contra
Authors: Prusak Olha 
Published: January 2022

AbstractPurposeTo study the advantages and disadvantages of using CAD/CAM technologies in the treatment of endocrine orbitopathy.MethodsResearch analysis of modern scientific publications, Sim Plant 13.02 software environment and Geomagic Freeform Plus.ResultsAccording to the literature, the frequency of complications of surgical decompression of the orbit is from 9.3% to 35% (most often ‐ the appearance of secondary diplopia, less often ‐ lesions of the hyoid nerve, cerebrospinal fluid leakage, epistaxis, bleeding in the orbit, etc. [Leong, 2009, Sellari‐Franceschini, 2016]. As patients today expect excellent functional and aesthetic results of surgical treatment, the urgent problem is to find new opportunities for planning and performing surgical decompression of the orbit, including the use of Computer‐Aided Design (CAD)/Computer‐Aided Manufacturing (CAM) technologies. Given the need for an individualized approach to the patient, the use of CAD/CAM technology in the treatment of endocrine orbitopathy has a number of advantages: obtaining three‐dimensional models of the skull expands the study of anatomy of the orbital walls, its volume, exophthalmos and minimization of intraoperative complications. The disadvantages of using CAD/CAM technologies are the multi‐stage and time‐consuming process (multislice computed tomography and data export to the software environment, segmentation of anatomical objects and creation of virtual three‐dimensional models, printing of resection surgical templates by stereolithography) and high cost.ConclusionsThe use of CAD/CAM technologies to optimize surgical decompression of the orbit in patients with endocrine orbitopathy has a number of advantages and disadvantages.
Investigating the effects of docetaxel on rat eye
Authors: Unsal Ayse Ipek Akyuz , Kahyaoglu Fadime , Onal Tuna , Demir Bilgin , Barutca Sabri , Demirci Buket 
Published: January 2022

AbstractPurposeDocetaxel (DTX) is a widely used chemotherapeutic agent in breast, prostate and lung cancers. Approximetly 60% of patients face ocular disorders including epiphora, stye, blepharedema, dacryostenosis, corneal and conjunctival disorders, entropion and blurred vision. The aim of this study is to investigate the effects of DTX on rat eyeMethodsThis study mainly planned to assess the alopecia effect of DTX, but the remained eye tissues have been evaluated to decrease the animal number used in medical researches. 6‐8 months old albino male Wistar rats (n = 7) were given 10 mg/kg intraperitoneally (i.p) DTX treatment three times at the 0th, 8th, 15th days. Control group (n = 6) was administered serum physiologic i.p once a week. The ocular tissues are taken at the 22nd day and evaluated by Hematoxylin&Eosin staining. TGF‐beta and TNF‐alfa stains were planned.ResultsPreliminary results of this study revealed conjunctival epithelial degeneration, corneal neovascularization, mild‐severe retinal nerve fibre layer degeneration, inflammation and cystic dilatation of lacrimal gland, increased capillary vessel density and vacuolar degeneration of optic nerve. The findings were demonstrated in Fig 1,2 and 3.ConclusionsDTX cause serious ocular disorders and this is the first experimental study investigating these effects histologically. Increasing number of cancer cases and frequent use of Docetaxel, urges ophthalmologist to be aware of its ocular side effects.
3D MRI tumour measurements for treatment planning of eye tumours
Authors: Klaassen Lisa , Jaarsma‐Coes M.G. , Ferreira T.A. , Vu T.H.K. , Marinkovic M. , Luyten G.P.M. , Rasch C.R.N. , Beenakker J.W.M. 
Published: January 2022

AbstractPurposeWe aim to evaluate 3D definitions of prominence for uveal melanoma (UM), and compare US and contrast‐enhanced T1‐weighted MRI measurements for the most appropriate definitions.Methods25 UM patients were scanned at 3 Tesla MRI with a 4.7 cm surface coil [1]. The tumour was delineated on the 3D contrast‐enhanced T1‐weighted images (voxel size 0.8 x 0.8 x 0.8 mm3). Three prominence definitions were evaluated. Promhaus: the distance to the tumour point most distal from sclera. Promsclera: similar to promhaus, but distances are measured perpendicular to the sclera. Promcentre: distance between most interior part of the tumour and sclera. The most appropriate definition was chosen and compared to the clinical ultrasound measurements. Differences >0.5 mm were considered significant.ResultsFor 13/25 patients, there was no significant difference between three definitions. For 12 patients, promsclera or promhaus yielded an oblique measurement or a measurement at the tumour edge. As these measurements are unsuitable for radiotherapy dose calculations, promcentre was selected as the most appropriate definition. For 7 patients, the difference between the US prominence and promcentre was >0.5mm (median absolute difference 0.3 mm, range 0.0–1.6 mm). In 3/7 patients, the MRI measurement was considered more accurate than the US measurement, as the tumour top was not visualized on US.ConclusionsAfter evaluation of 3D prominence definitions for MRI, the median absolute prominence difference (0.3 mm) was below the MRI voxel size and the inter‐observer variability for US measurements [2]. Largest differences were observed in patients where US tumour visualization was incomplete, in which case MRI was preferred. For prominence differences in patients with tumours adjacent to the optic nerve or with enhancing sclera, further study is needed to determine the most accurate method.Bibliography:1. Ferreira et al. Cancers (2019)2. Haritoglu et al. Br J Opth (2002)
Orbital presentation of Langerhans cell histiocytosis
Authors: Díaz Oier Pérez , Reina Alfonso Rubio , de Paz Sergio Pérez , Cardeñosa Nuria Cuenca , López Fernando Sellers 
Published: January 2022

AbstractPurposeTo analyze and review an ophthalmic manifestation of an uncommon pathology such as Langerhans cell histiocytosis (LCH).MethodsSingle‐patient case report.ResultsLCH is an uncommon disorder produced by mononuclear phagocyte system cell proliferation, resulting in antigen‐presenting cells similar to Langerhans cells invading bone, skin, bone marrow, lymphatic nodes, liver, spleen and central nervous system (CNS). The number and location of affected organs is key in treatment and prognosis. In this case report, a 16‐year‐old girl presented 10 day‐long superoexternal orbital pain associated with palpebral edema, making acute dacryoadenitis and preseptal cellulitis the most common differential diagnoses. After poor response to antibiotic and anti‐inflamatory oral treatment, CT scan was ordered, showing an osteolytic frontal mass at the superoexternal orbital roof, expanding to extraconal space and anterior cranial fossa. With a differential diagnosis of LCH, osteomyelitis, hematologic disease or vascular malformation, among others, a biopsy was performed, confirming the LCH diagnosis. An extension exam was performed, excluding new tumors, reaching a diagnosis of a monostotic bone form of LCH. Chemotherapy with prednisone and visblastine was advised due CNS affectation risk because of the tumor’s location, with evident but incomplete response after six‐week induction and complete response after a second six‐week induction cycle. The patient is currently ongoing consolidation chemotherapy.ConclusionsOrbital tumors are not frequent in pediatric ages, but they must be included in the differential diagnosis of orbital cellulitis, since that can be the first manifestation of these tumors.
Class2, 1p loss, 8q gain uveal melanoma: a case report
Authors: Demková Lucia , Šoltýsová Andrea , Kajabová Viera Horváthová , Danková Zuzana , Jašek Karin , Dvorská Dana , Babál Pavel , Furdova Alena , Smolkova Bozena 
Published: January 2022

AbstractPurposeMetastatic spread of uveal melanoma (UM) is associated with epithelial‐mesenchymal transition (EMT). This process is not sufficiently investigated in UM due to its neuroectodermal origin. Herein we present a case study of 1p loss, 8q gain in a locally advanced UM patient enrolled after the onset of metastatic disease.MethodsUM‐specific chromosomal rearrangements were assessed by MLPA, transcriptomic analysis using the Agilent microarray platform. Vital tumor cells were injected subcutaneously into NSG® mice to develop patient‐derived xenografts (PDX). Nine hot‐spot mutations in four genes (GNA11, GNAQ, PLCβ4, and CYSLTR2) were investigated by digital droplet PCR (ddPCR).ResultsThe tumor and the heterogeneous tumor‐bearing mass in the right orbit were confirmed as a malignant neoplasm with an unfavorable immunophenotype, poor prognosis Class 2 gene expression profile, 1p loss, and 8q gain. GNA11 p.Q209L mutation with high plasmatic ctDNA copy numbers (n = 108/ul) was found by ddPCR. Despite the lack of monosomy 3, PDXs were successfully derived, with high vimentin expression in the second passage.Conclusions1p loss and 8q gain were associated with the distinct gene expression pattern of EMT‐associated genes, unfavorable phenotype, and development of PDX.This work was supported by APVV‐17‐0369 and VEGA 1/0395/21 grants.
Monitoring proliferative diabetic retinopathy with optical coherence tomography angiography
Authors: Enders Christian , Jens Ulrich Werner 
Published: January 2022

AbstractPurposeTo assess the longitudinal changes of neovascularisations (NV) in a patient with proliferative diabetic retinopathy (PDR) after panretinal photocoagulation under additive intravitreal treatment with Vascular Endothelial Growth Factor (VEGF)‐inhibitors using optical coherence tomography angiography (OCTA).MethodsWe present two patients after several sessions of panretinal photocoagulation and intravitreal treatment with VEGF‐Inhibitors due to DME and also to treat PDR. Multimodal imaging including fundus photography and optical coherence tomography angiography (OCTA) was used to monitor the effect of VEGF‐inhibitors on the NV. We measured the size of the NV at baseline and at 1, 3, and 6 months and also compared morphology of the NV.ResultsAll neovascularisations of the disc and elsewhere showed a significant regression in morphology and also in their area. No adverse events were reported.ConclusionsSuccessful treatment of PDR with VEGF‐Inhibitors with a significant regression of the NV could be shown by OCTA. In the future, treatment response should be closely monitored by using multimodal imaging including OCTA to guarantee the best therapy for our patients. Precise quantification of the neovascularization’s area by OCTA makes it a useful tool for monitoring the response of retinal neovascular lesions to anti‐VEGF treatment.
Quantitative optical coherence tomography angiography biomarkers for Alport syndrome
Authors: Maria Cunha Ana , Teixeira Daniela , Cabral Diogo , Estrela‐Silva Sérgio , Falcão‐Reis Fernando , Carneiro Ângela 
Published: January 2022

AbstractPurposeTo evaluate microvascular abnormalities of patients with Alport syndrome AS using optical coherence tomography angiography (OCT‐A) quantitative biomarkers.MethodsCross‐sectional, prospective evaluation of consecutive patients with AS and healthy subjects. AS diagnosis was performed by genetic test. All participants underwent a retinal vasculature evaluation by spectral domain optical coherence tomography (SD‐OCT) and OCT‐A of the macula. Quantitative analysis included: whole vascular density (VD, %), foveal avascular zone area (FAZ, mm2), fractal dimension (FD) and lacunarity (LAC).ResultsNinety‐four eyes were included in this study, 45 eyes from patients with AS and 49 eyes from healthy subjects. The pathogenic mutation in the COL4A5 gene on the chromosome X was found in 14 patients the pathogenic autosomal recessive mutations in the COL4A3 gene were found in 9 patients. Quantitative evaluation demonstrated a significant difference between AS and healthy subjects on LAC of the SCP and DCP (p < 0.001 and p < 0.001, respectively) and on FD in the DCP (p < 0.001).ConclusionThe DCP Alport patients have a higher vessel nonuniformity than DCP of healthy subjects. We hypothesize that endothelial cells lesion in the setting of low resistance at the DCP circuit that could lead to long‐term structural disorganization.