bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic findings in over 600 individuals with inherited retinal disorders in Finland
Authors: Krootila Julia , Kaukonen Maria , Sankila Eeva‐Marja , Paavo Maarjaliis , Seitsonen Sanna , Repo Pauliina , Backlund Michael P. , Majander Anna , Lindahl Päivi , Vasara Kristiina , Avela Kristiina , Salminen Eveliina , MacLaren Robert E. , Kivelä Tero T. , Turunen Joni A. 
Published: December 2022

AbstractPurpose: To report genetic findings in patients with suspected inherited retinal disorders (IRD) in a large Finnish cohort.Methods: The study was conducted retrospectively on IRD‐patients treated at the Department of Ophthalmology, Helsinki University Hospital between January 1, 2012, and December 31, 2020. Eligibility criteria were met by 786 patients. Clinical diagnosis, genetic testing method and result, relevant family history, and mode of inheritance were drawn from the electronic health registries.Results: Of the 638 patients who underwent genetic testing, 79% received a genetic diagnosis. The genetic findings corresponded to autosomal recessive (AR) inheritance in 242 patients, X‐linked in 158, and autosomal dominant (AD) in 94, whereas pathogenic variants in mitochondrial genes were found in 22 patients. The most common genetic diagnosis was a pathogenic variant in RS1 causing X‐linked retinoschisis (n = 86, 17% of all patients with a positive genetic finding). Of retinitis pigmentosa ‐associated genes, causative variants were most commonly found in CERKL (n = 43, 8.5%), RPGR (n = 31, 6.1%), and EYS (n = 25, 5.0%). CERKL variant c.375C > G, p.(Cys125Trp) and EYS variant c.1155 T > A, p.(Cys385Ter), both with known founder effects in the Finnish population, were frequently discovered (n = 69 and 53, respectively). Variants in the ABCA4 gene explained IRD in 24 patients. Pathogenic variants were also found in CHM (n = 26), OPA1 (n = 16), and CLRN1 (n = 16).Conclusions: The genetic causes of IRDs in Finland differ from other countries because of its isolated population history. Compared to similar studies in other countries, the percentage of patients with a positive genetic finding was higher (79%), which can partly be explained by the enriched founder mutations in the population. About 20% of the patients still lack a genetic diagnosis. These patients might have causative variants that are difficult to detect with current testing methods (such as complex structural variants) or the variants are in genes not yet associated with IRD.
Successful treatment of corneal perforation due to gonococcal keratoconjunctivitis with a combinations amniotic membrane transplantation and antibiotics
Authors: Perdana Dicky Putra , Sofia Ovi 
Published: December 2022

AbstractPurpose: To present a case of gonococcal keratoconjunctivitis with corneal perforation as a rare case and its management.Methods: Case was reported from an outpatient clinic patient at Ophthalmology Department of Dr. Saiful Anwar General Hospital. The diagnosis was based on history taking, ophthalmological examinations and microbiological examination result.Results: A 19‐year‐old man complained of red, swollen, and painful eyes with sticky and copious discharge. The patient experienced clinical deterioration despite antibiotic treatment received at the previous eye clinic. There was a history of promiscuity and genital discharge 2 weeks before the eye symptoms. On eye examination, the visual acuity of the right eye was 1/60, and the left eye was 6/24. Both eyes showed conjunctival hyperemia and edema with purulent discharge. There was corneal perforation on the right eye sized 2.4 mm × 1.8 mm. Corneal erosion were noted on the left eye. Gram examination from conjunctiva swab of both eyes revealed intracellular Gram‐negative diplococci. The patient was hospitalized and received systemic antibiotics intravenous ceftriaxone, single dose oral azithromycin and topical moxifloxacin 0.5%. Patient also underwent amniotic membrane transplantation (AMT) in right eye due to small perforation. Improvement was noted as no discharge, closure of perforation, visual acuity of the right eye became 6/48, and the left eye became 6/6 at 1‐month follow‐up.Conclusions: Systemic and topical antibiotics with AMT effectively manage gonococcal keratoconjunctivitis with small corneal perforation.
Assessing the impact of long‐term idebenone treatment on various visual acuity outcomes in Leber's hereditary optic neuropathy (LHON): Results, according to disease stage, from the prospective, natural history‐controlled LEROS study
Authors: Tomasso Livia , Carelli Valerio , Yu‐Wai‐Man Patrick , Klopstock Thomas ,   the LEROS Study Group
Published: December 2022

AbstractPurpose: For patients with LHON, preservation of functional visual acuity (VA) and/or recovery of lost VA are desirable outcomes. Beyond this, prevention of further VA worsening is also important. In LEROS, VA outcomes following 24 months of idebenone treatment were compared to an external, matched, natural history (NH) cohort. Here, we report results from a cumulative frequency analysis to understand the impact of idebenone across the range of possible VA outcomes.Methods: Patients with LHON onset ≤5 years prior were enrolled and stratified by time since onset: subacute/dynamic (≤1 year) and chronic (>1 year). Data from 181 patients treated up to 24 months were compared to retrospective data from an external natural history (NH) cohort (372 patients), matched by time since onset. In a cumulative frequency analysis, VA change was assessed from baseline to month 24. A change of ≥0.2 logMAR was considered a clinically relevant recovery or worsening, depending on the direction of change.Results: In subacute/dynamic eyes treated with idebenone for 24 months, 47.9% (58/121) experienced a recovery of VA, and 25.8% (24/93) experienced VA worsening. This compared to 33.3% (25/75), and 51.0% (25/49) of untreated subacute/dynamic eyes displaying a recovery or worsening, respectively. In chronic eyes, recovery was observed in 31.9% (37/116) that had undergone treatment versus 16.1% (15/93) when untreated. A VA worsening was observed for 2.9% (2/68) of treated chronic eyes versus 20.0% (12/60) of untreated. The majority of treatment emergent adverse events were considered of mild to moderate intensity, with only 11.3% considered to be related to idebenone treatment.Conclusions: In both the subacute/dynamic and chronic stages of LHON, idebenone treatment was able to boost VA recovery and prevent further VA deterioration. Consistent with previous findings, idebenone was well tolerated with no new safety concerns observed.
Cataract surgery with toric lens. Assessment through tomography and intraoperative aberrometry ORA
Authors: del Buey Sayas María Ángeles , Pascual Paula Casas , Alonso Sofia Bielsa , Rodriguez Nuria López , Monzon Sara Marco , Fernández Miguel Castillo , Álvarez Constanza Caramello , Ascaso Javier 
Published: December 2022

AbstractPurpose: Nowadays, cataract surgery not only aims at the extraction of the opacified lens. Promoted by advances in the last decade, this medical procedure has evolved into a refractive technique whose purpose is emmetropia. The current intention, from an optical point of view, is to obtain a residual refractive error within ±0.50 diopters of spherical equivalent, and <0.75 diopters in the residual cylinder. Consequently, a prospective single‐center cross‐sectional study was performed at the Ophthalmology Department of the Lozano Blesa University Hospital of Zaragoza, which was conducted from July 2021 to February 2022.Methods: Including a total of 42 eyes of 34 patients (38% male, 62% female), with astigmatism greater than 2.00 keratometric diopters undergo cataract surgery. The surgical procedure is carried out using FLACS femtosecond laser‐assisted surgery, altogether with implantation of toric intraocular lenses (Alcon SN6AT2‐9). Inclusion criteria pursued uncomplicated interventions, performed by a single surgeon and with a NRR (No Rotation Recommended) outcome.Results: The mean ages were 69.5 ± 11.89 years (39–90), the mean axial length was 23.61 ± 2.38 mm. The corneal dioptric power was 3.10 ± 1.22 D anterior surface contribution, and 0.58 ± 0.40 D posterior surface contribution. It is worth highlighting that the contribution or the posterior surface in ATR eyes (against the rule) was only 0.21 ± 0.15 D. Using vector analysis, mean (standard deviation) and median (interquartile range) from a vector of astigmatism we obtained the following results: ORA's IOL recommendation and the preoperative prediction coincided in 50% of the cases (final astigmatism mean 0.76D ± 0.47 D). In the 50% remaining cases where they did not match, the biometer‐recommended IOL was inserted (final astigmatism mean 0.84 D ± 0.77 D).Conclusions: To sum up, compared with standard methods, we show that the use of ORA intraoperative aberrometry system increases predictability and safety during the intervention, improving efficacy and giving better outcomes. The use of FLACS femtosecond laser‐assisted surgery and intraoperative guidance systems make phacoemulsification surgery a more reproducible technique.
A rare case of a combined retinal artery and vein occlusion in a young patient
Authors: Goh Eunice , Yeo Tun Hang , Hah Yan Yee 
Published: December 2022

AbstractPurpose: To report a case of combined retinal artery and vein occlusion in a young patient.Methods: A case report.Results: A 37‐year‐old gentleman presented to the Emergency Department with a central scotoma in his right eye for 1 day. He was known to have right amblyopia but had no known past medical illness. He was a chronic smoker. Best corrected visual acuity was 6/45 in the right eye and 6/7.5 in the left eye. His intraocular pressure was 19 (right) and 18 (left) mmHg. Anterior segment examination was normal. His right eye fundus examination revealed retinal ischaemia and edema in the macula area supplied by cilioretinal artery. The inferotemporal vessels were also tortuous, with flame and dot haemorrhages. His left eye was normal. Optical coherence tomography showed inner retinal hyperreflectivity and edema. Fundus fluorescein angiography showed delayed filling of the cilioretinal artery and inferotemporal retinal vein corresponding to the clinical findings. He was diagnosed with a right eye combined cilioretinal artery and inferotemporal branch retinal vein occlusion. An anterior chamber tap was performed immediately to lower intraocular pressure and improve perfusion. The next day, he reported that his vision was clearer (visual acuity 6/20) and the scotoma was smaller in size. Given his young age, we performed a full systemic young‐stroke workup to evaluate his vascular risk factors and rule out thrombophilia. He was found to have newly diagnosed diabetes and hyperlipidemia. His coagulopathy screen was negative. A primary care referral was made for management of his chronic diseases and for smoking cessation support.Conclusions: Combined retinal and venous occlusions are rare and are often associated with significant systemic comorbidities. In a young, healthy patient, it is particularly important to perform detailed investigations to work up its cause, as this could be a harbinger of future ischaemic events.
“The glaucoma NO‐ctail” the use of vasodilators and OCT‐A in ischemic optic‐nerve: Case report
Authors: Tsigkos Dimitris , Theodorou Chrisanthi , Gkogkou Konstantina , Zouzoulas Euthimios , Tsigkos Vasileios 
Published: December 2022

AbstractPurpose: To highlight the value of enhancing the microcirculation of the optic nerve head, with a combination (cocktail) of vasodilators and at the same time the avoidance of vasoconstrictors (eg timolol). As well as, to point out the key contribution of OCT‐Angiography (OCT‐A) in the early diagnosis and monitoring of pathological microcirculation.Methods: A 68‐year‐old patient with ischemic optic nerve (OD) without stable antiglaucomatic treatment due to asthma, under Acetazolamide ¼ ×1 and vasodilator supplements (CoQ10, Bilberry extract/Pinus Pinaster), is presented with a significantly pale optic disc and incipient VF defects.BCVA OU: Logmar 0.1.IOP: 18/10 mmHg.RNFL: OD 74 μm OS 103 μmΑ large decrease in the peripapillary vascular density is detected in OCT‐A (peripapillary RPC density 37.3%).Ginkgo Biloba supplement is added and transcleral diode cyclophotocoagulation 180 ° is performed.Results: The following 6 months the IOP(OD) ranges from 11 to 14 mmHg. VF is stable and RNFL (OD) is slightly improved (78‐80 μm), while significant improvement in the peripapillary vascular density is shown in follow‐up OCT‐A after 5 months (peripapillary RPC density 44.4%).Conclusions: As OCT‐A shows, in patients with poor optic nerve microcirculation, the combination of early IOP reduction and the use of substances with vasodilating action, may have quite beneficial effects, possibly even stabilizing (if not reversing) RNFL thinning.
Changes in choroidal and retinal thickness assessed by optical coherence tomography in type 2 diabetes mellitus patients with moderate diabetic retinopathy
Authors: Fernández‐Espinosa Guisela , Orduna‐Hospital Elvira , Boned‐Murillo Ana , Díaz‐Barreda María Dolores , Bielsa‐Alonso Sofía , Sopeña‐Pinilla María , Sánchez‐Cano Ana , Pinilla Isabel 
Published: December 2022

AbstractPurpose: To study choroidal thickness (CT) in type 2 diabetes mellitus (DM2) patients with moderate diabetic retinopathy (DR) without diabetic macular edema (DME) and to correlate with changes in retinal thickness (RT) with swept source OCT (SS‐OCT)) compared to healthy subjects.Methods: Fifty‐four DM2 patients with moderate DR without DME and 73 age‐matched healthy subjects were evaluated using SS‐OCT to measure changes in total RT and the CT in the nine areas of the Early Treatment Diabetic Retinopathy Study (ETDRS) macular grid.Results: The mean ages were 64.06 ± 11.98 years and 60.79 ± 8.62 years in the diabetic and control groups, respectively. Visual acuity (VA) with ETDRS 100% was lower in the DM2 patients (p < 0.001). In the total RT, statistically significant differences were found in the temporal inner area being thicker thickness in the DM2 group (260.70 ± 19.22 μm vs. 271.90 ± 37.61 μm with p = 0.010, in control and DM2 group, respectively). The CT did not show significant differences between both groups (p > 0.05) in any ETDRS area. There was a significant negative correlation between RT and age in all of the external ETDRS areas and a positive significant correlation in the central area for DM2 group. There was also a negative significant correlation between CT and age in all ETDRS areas except for the inferior inner area. In the DM2 group, a negative correlation was observed between RT and CT in the central area (p = 0.039) and in both horizontal parafoveal areas (temporal inner: p = 0.028, central: p = 0.039 and nasal inner: p = 0.003).Conclusions: DM2 patients with moderate DR have no changes in CT. CT and RT decrease with age and show a negative correlation with RT in the central and horizontal parafoveal areas of the ETDRS grid.
Prevalence of dry eye disease based on body mass index in Islamic boarding school population in rural Malang area
Authors: Putri Mutiara Kristiani , Putranto Herwindo Dicky , Aldina Rosy 
Published: December 2022

AbstractPurpose: To investigate the prevalence of Dry Eye Disease (DED) based on body mass index (BMI) in Islamic boarding school population in the rural Malang area.Methods: A cross‐sectional study was conducted from October to November 2021. Samples were selected using consecutive sampling in Nurul Mutaqina Al‐Barokah Islamic boarding school Malang, East Java, Indonesia. 359 students and employees were enrolled in this cross‐sectional study. Ocular Surface Disease Index (OSDI) score and Tear Break Up Time (TBUT) test were used to assess dry eye disease. Body mass index was calculated using anthropometric measurements that included height and weight. BMI in adults is measured by dividing the body weight in kilograms by height in meters squared (kg/m2) In paediatrics, gender‐specific BMI‐for‐age percentile curves are used to define the BMI category.Results: Of 359 participants, 90 participants had abnormal TBUT and 19 participants had an OSDI score of (13. 13 of them were diagnosed with DED, none was underweight, 38.5% were normoweight, 41.7% were overweight and 8.3% were obese p = 0.011 (OR 2232, CI 95%, 1207–4130).Conclusions: The prevalence of dry eye disease according to body mass index was 3.6% which tends to be low. DED was commonly found in groups with higher BMI. Further investigation to determine the prevalence of DED with a proportional amount of each BMI category is highly recommended for future research.
Hairline cracks in osteo‐odonto‐keratoprosthesis: An Achilles' heel
Authors: Liu George , Naveed Hasan , Liu Christopher 
Published: December 2022

AbstractPurpose: Background: The osteo‐odonto‐keratoprosthesis (OOKP) is the device of choice for restoring sight in end‐stage corneal blindness not amenable to conventional corneal transplantation. A bio‐integrable lamina created from an autologous single‐rooted tooth is used to frame a PMMA optical cylinder. The lamina is sealed by an overlying buccal mucous membrane graft. An OOKP has a survival rate of 80% over 18 years. The lamina is subject to resorption over time. Clinical and radiological observation are essential for detecting impending laminar failure.Aims: Case report and literature review to illustrate the limits of clinical and radiological observation of an OOKP.Methods: Retrospective case study of a 40‐year‐old male with bilateral corneal blindness from Stevens Johnson Syndrome, first presenting in 1996 with light perception vision, underwent left Stage 1 (March 1997) and Stage 2 OOKP (June 1997) surgery. Post‐operatively, his visual acuity was 6/5+ (1.2, 20/15).Results: Regular CT imaging revealed no loss of volume or impending failure. He presented with severe eye pain on 11.12.2016, having had a normal quarterly review 5 days beforehand. He underwent endoscopic vitrectomy, biopsy and intravitreal antibiotics on 12.12.2016 for endophthalmitis (Group B Streptococcus). Despite efforts to treat his infection, his left eye was eviscerated on 16.12.2016. Later study of the lamina revealed a hairline crack not visible on CT imaging.Conclusions: We discuss an unforeseen case of a failed OOKP lamina due to a hairline crack despite limited laminar resorption. Current management options for failing laminae include insertion of a new lamina, bone morphogenetic protein ± bone graft, an alternative device, and removal of device and closure of the corneal opening with a small full thickness corneal graft. Hairline cracks remain an Achilles' heel. There should be a high index of suspicion of endophthalmitis even in the presence of good laminar bulk.
An analysis of posterior capsule rupture (PCR) rate and risk stratification within the National Health Services (NHS)
Authors: Mak Sammie , Noor Maha , Almuhtaseb Hussein 
Published: December 2022

AbstractPurpose: Posterior capsule rupture (PCR) is a serious complication of cataract surgery, which can lead to other complications such as cystoid macular oedema, retinal detachment and endophthalmitis1,2. The aim of our study was to firstly, ascertain the rate of PCR in patients undergoing phacoemulsification and intraocular lens implant (IOL) surgery at Rochdale Eye Unit, UK. Secondly, to identify the factors contributing to increased risk of PCR. Thirdly, to establish whether patients are being appropriately screened for risk factors for PCR.Methods: A retrospective study of patients that underwent phacoemulsification and IOL surgery between 1st September 2021 and 1st April 2022 was performed. A total of 1179 patients were obtained using electronic records (OpenEyes™https://openeyes.apperta.org/).Results: Of the 1179 patients, 18 patients (1.52%) experienced PCR with or without vitreous loss. Pre‐procedure PCR risk was not calculated for any of them. 11 (61%) cases were carried out by consultants, 6 (33%) by registrars, and 1 (6%) by an associate specialist. Increasing age (above 70 years), excess movement, and co‐morbidities were associated with an increased risk of PCR. Only 7 (0.6%) of the 1179 patients had the PCR risk estimated (using OpenEyes™ calculator) prior to booking of procedure. The calculator considers presence of glaucoma, diabetes, the density of the cataract, and experience of the surgeon, among other factors. The risk was not calculated in 1109 (94%) patients.Conclusions: The risk of PCR during phacoemulsification and IOL surgery rises with increasing patient age, presence of co‐morbidities, and procedure undertaken by junior surgeons. Through greater utilization of PCR risk calculation, encouraged with electronic prompts and educational posters, this risk can be further reduced. The method may also be adapted by other National Health Service (NHS) Trusts in their cataract listing proforma.References1. Thevi T, Sahoo S, Kyaw Soe HH. Posterior Capsule Rupture during Phacoemulsification among Patients with Pseudoexfoliation – Is There A correlation? The Malaysian Journal of Medical Sciences. 2014;21(4):51–53.2. Chakrabarti A, Nazm N. Posterior Capsular Rent: Prevention and Management. Indian Journal of Ophthalmology. 2017;65(12):1359–1369.
Bilateral uveitis following nivolumab and ipilimumab treatment for mesothelioma
Authors: Stavropoulou Theodora , Theodorakis Andreas , Papazacharia Areti , Papadedes Konstantinos 
Published: December 2022

AbstractPurpose: Case report of a patient presenting with sudden onset of painful decreased vision in both eyes, diagnosed with Intermediate uveitis and keratitis. We will review the diagnostic pathway and the management of this case, as well as the correlation with the systemic treatment of that time.Results: A 63‐year‐old male presented in the Emergency department with bilateral red painful eyes and blurred vision. The patient had a past ophthalmic history of keratouveitis in RE and medical history of mesothelioma for which he had recently started treatment with Nivolumab and Ipilimumab. The visual acuity on presentation was 6/9 in the RE and 6/6 in the LE. Upon examination BE were hyperaemic, there was a past corneal scar in the RE and bilateral KPs. RE had +1 AC inflammation and LE traces of AC inflammation. No signs of posterior segment inflammation were seen in both eyes. The patient was treated initially with oral Aciclovir 400 mg BD and Pred Forte 1% in BE QDS. One week after initiation of treatment symptoms improved and a tapering regime of the local steroid treatment was given. Four weeks later the visual acuity in the RE was 6/12 and 6/9 in the LE. Upon examination there was +1 AC activity in BE and +1 vitreous activity. OCT demonstrated bilateral macular oedema. An FFA revealed bilateral optic disc hyperfluorescence. Upon further discussion of the patient's medical history it was revealed that both episodes of intraocular activity coincided with his infusions of Nivolumab and Ipilimumab. The patient was advised to discontinue the oral Aciclovir treatment and was initiated on intensive regime of local steroids which was tapered on improvement of the vision and the inflammation. Our ocular findings were communicated the patient's oncology team that decided to discontinue the above treatment.Conclusions: Nivolumab is an anti‐programmed cell death protein‐monoclonal. It is used for cancer treatment but case reports have emerged of uveitis and ocular surface disease. Ipilimumab is a humanized CLTA‐4 antibody and it can be associated with immune related adverse events such as uveitis. Our patient was switched to a different treatment protocol without further ocular inflammation and excellent visual outcome. Clinicians should raise their index of suspicion in side effects around the timing of treatment.