bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diplopia as presenting sign of Turcot syndrome
Authors: Ninclaus V. , Walreadt S. , Baert E. , Laureys G. , De Zaeytijd J. 
Published: September 2015

PurposeTo describe a patient with diplopia who was diagnosed with Turcot syndrome.MethodsA 10‐year old boy presented with a history of left‐sided sixth and seventh nerve palsy. He underwent imaging of the brain and colon, full ophthalmologic and genetic work‐up.ResultsA 10‐year old boy was referred with combined left‐sided sixth and seventh nerve palsy since one month without symptoms of raised intracranial pressure. BCVA was 6/6 in both eyes. Fundoscopy revealed bilateral, multiple, oval pigmented ocular fundus lesions (POFLs) in the 4 quadrants. These POFLs, together with the cranial nerve palsies raised the suspicion of Turcot syndrome, a familial neoplasia syndrome characterised by familial adenomatous polyposis and tumours of the central nervous system. Urgent MRI scan of the brain and stereotactic biopsy showed a primitive neuroectodermal tumour (PNET) at the pons. Coloscopy revealed multiple polyps. DNA analysis of the APC gene confirmed the clinical diagnosis of Turcot syndrome. The PNET was treated with combined radio‐ and chemotherapy. The patient underwent a prophylactic total colectomy as virtually all patients develop a carcinoma of the colorecal region if left untreated.ConclusionsDiplopia in childhood is rare and seldom innocuous. It requires a prompt and thorough diagnostic evaluation. The presence of POFLs should alert the clinician to the possiblility of Turcot syndrome. Recognition of this rare syndrome can lead to earlier diagnosis, which is vital to appropriate surveillance and early surgical intervention of the highly frequent neoplasias in Turcot Sydrome.
Agreement between ophthalmoloscopy and ultrawide field image analysis in an outpatient clinic setting
Authors: Bordet J. , Caliot J. , Vardi K. , Barbe C. , Ducasse A. , Angioi K. , Arndt C. 
Published: September 2015

PurposeUltrawide field imaging of the retina is a rapidly developing technology. The purpose of this study was to evaluate the concordance between fundoscopy and ultrawide field image reading both performed by an ophthalmologist.MethodsA prospective two center study was performed at two university hospitals (Nancy, Reims) from January 2011 to November 2014. The first eligible patient presenting at the outpatient every working day was included. A wide field imaging optomap® (optos) was performed by a nurse or an orthoptist before the medical examination. Indirect slit lamp fundoscopy was performed, with or without dilated pupils according to the clinical situation. Then the image lecture was performed by the ophthalmologist. In both cases, the characteristics of the optic disc, the vessel and the retina were noted. The agreement between both examination methods was considered excellent when kappa coefficient (k) was >0.8.Results901 patients were included in the study. A highly substantial agreement between both examination methods was found with the overall results of k = 0.88 [0.85–0.90]. When comparing the agreement with retinal findings, (k = 0.83 [0.80–0.86]), optic disc findings (k = 0.89 [0.86–0.92]) and vessel analysis (k = 0.84 [0.79–0.89]), it was highly substantial. An abnormal finding was detected on ultrawide field image analysis only and was missed with fundoscopy in 42 eyes. In 12 eyes, an abnormal finding was seen with fundoscopy and was not detected on ultrawide field imaging.ConclusionsThere appears to be an excellent agreement between ultrawide field image analysis and fundoscopy. However the false negative rate appears to be lower with fundoscopy and ultrawide field image analysis associated.
Efficacy of intravitreal Aflibercept in patients with neovascular AMD who were previously treated with Ranibizumab based on a Treat and Extend protocol
Authors: Turksever C. , Prünte C. , Hatz K. 
Published: September 2015

PurposeTo analyze the efficacy of Aflibercept in patients with choroidal neovascularization (CNV) due to Age related macular degeneration (AMD) who were previously treated with Ranibizumab based on a Treat and Extend protocol (T&E).MethodsWe have reviewed 30 eyes of 30 patients with CNV due to neovascular AMD. All patients were previously treated with Ranibizumab based on a T&E protocol. Therapy was converted to Aflibercept following the same T&E protocol. Lesion activity was determined based on fluorescein angiography and spectral domain optical coherence tomography (Spectralis HRA+OCT®, Heidelberg engineering). Data were retrospectively evaluated for best corrected visual acuity(BCVA) variation from baseline, central retinal thickness (CRT), sub‐ and intraretinal fluid characteristics, structural changes of CNV, the total number of injections, as well as therapy interval with Aflibercept over 18 months. A t‐test was applied.ResultsThe mean age was 81.5(+/‐6.5) years. The eyes had received a mean of 25.6(+/‐9.7) Ranibizumab injections. After the initiation of Aflibercept, at months 18, mean CRT was significantly improved from 470.2 µm (+/‐164.70) to 328.6 µm(+/‐91.23); mean maximum(MM) subretinal fluid height reduced from 88.72 µm(+/‐90.48) to 18.27 µm(+/‐39.13); MM vertical intraretinal cyst size reduced from 100.16 µm (+/‐143.45) to 49.33 µm (+/‐99.37), respectively. Mean height of pigment epithelial detachment reduced from 289.16 µm (+/‐219.17) to 240.16 µm (+/‐228.97), MM recurrence‐free interval increased from 6.27 (+/‐1.99) weeks to 8.05(+/‐2.43) weeks, as well as the mean BCVA (decimal) was improved from 0.37(+/‐0.23) to 0.41(+/‐0.22).ConclusionsSwitching from Ranibizumab to Aflibercept indicated a longer therapy interval as well as significantly reduced activity of lesion. Aflibercept allowed maintenance of BCVA and reduction of mean CRT.
Anterior chamber aqueous flare in retinal detachment surgery
Authors: Berrod J.P. , Kurun S. , Mouna A. , Jeancolas A.L. , Ferte A. , Conart J.B. 
Published: September 2015

PurposeTo investigate preoperative aqueous flare as a predictive factor for proliferative vitreoretinopathy (PVR) leading to relapse in patients with primary rhegmatogenous retinal detachment repear.MethodsPreoperatively, the aqueous flare of 100 consecutive patients with unilateral rhegmatogenous retinal detachement (RD) was measured with Kowa FM‐500 laser flare‐cell meter. All patients were evaluated at 1 month and 6 months or just after recurence.ResultsTwenty eyes underwent redetachment secondary to PVR developpement. The mean value of flare of patients that redetached was 48.12 pc/ms versus 17.74 pc/ms for those who did well (p = 0.002). We observed that 17/20 recurrences with PVR (85%) and 24/76 that did well (31.6%) had flare greater than 15 pc/ms (p = 0.0355). Moreover in patients without preoperative clinical signs of PVR, the sensitivity of the laser cell flare to predict post operative PVR when flare reached 15 pc/ms was 100% with 77.5% specificity and 31.25% positive predictive value.ConclusionsOur study shows the effectiveness of the laser flare cell meter in detecting eyes at risk of developing post operative PVR leading to recurrences. The laser flare‐cell meter is a non invasive tool that informs the surgeon on the potential severity of the detachment.
Intravitreal anti‐VEGF treatment for refractory diabetic macular edema
Authors: Papavasileiou E. , Quijano C. , Younis S. 
Published: September 2015

PurposeTo compare anti‐VEGF monotherapy with combination treatment of anti‐VEGF injections plus macular laser (focal or modified grid) for refractory diabetic macular edema (DMO).MethodsWe included patients with DMO who had more than 6 anti‐VEGF injections and were examined in the Macula clinic. Our outcomes were change in BCVA, CRT and number of anti‐VEGF injections.ResultsWe included 22 patients (13 males and 9 females) with a mean follow up of 24 months. Mean age was 63.18 years (range: 47–77 years). 4 patients had Type 1 and 18 had Type II diabetes. 86.36% had hypertension and 68.18% hyperlipidaemia on treatment. 22.72% were pseudophakic, 45.45% had bilateral DMO and 45.45% had PRP laser. 70% of patients had Lucentis injections and 30% had Avastin injections. 70% were on anti‐VEGF monotherapy and 30% had combination therapy (macular laser plus anti‐VEGF injections). Mean baseline BCVA (in letters) was 27.24 and improved to 30.27 on last visit (+6 letters gain). Mean baseline Central Retinal Thickness (CRT) was 518.33 µm and decreased to 356.24 µm (−162.08 µm) on last visit. Mean number of injections was 8.88. Subgroup analysis showed that those who had anti‐VEGF monotherapy improved their BCVA during the follow up period to +7.6 letters and those on combination therapy improved to +5.82 letters. CRT decreased from baseline to last visit on both groups.ConclusionsBoth treatment groups improved their VA and CRT from baseline, however, anti‐VEGF monotherapy had better visual outcomes compared to combination treatment.
Mesopic Visual Acuity in Type2 Diabetes without Retinopathy
Authors: Aldaham S. , Martín‐Ridura M.D.C. , Barrio A.R. , Antona B. , Carballo‐Álvarez J. , Puell M. 
Published: September 2015

PurposeToday, the information about the extent to which mesopic visual acuity (VA) is altered in diabetics without retinopathy is lacking. The purpose of this study was to evaluate distance high contrast VA (HC‐VA) and low contrast VA (LC‐VA) under mesopic luminance conditions in type 2 diabetics without any signs of retinopathy.MethodsThirty‐six control subjects and twenty‐three diabetics (well controlled glucose level) without retinopathy (mean onset duration 8.5 ± 4.42 yrs) were tested. All subjects had best corrected VA of 20/20 or better. VA was measured using the HC (96% contrast) and LC (10% contrast) Baily‐Lovie charts under photopic (85 cd/m2) and mesopic (0.10 cd/m2) luminance conditions with best distance correction worn. The subject was left to dark adapt for 10 minutes in the dark before testing mesopic VA.ResultsMean photopic VA's (logMAR) were significantly worse in diabetics than controls (HC‐VA 0.03 ± 0.08 and −0.03 ± 0.08, p < 0.01; LC‐VA 0.17 ± 0.08 and 0.11 ± 0.11, p < 0.05, respectively). Mean mesopic HC‐VA was also worse in diabetics than controls (0.56 ± 0.11 and 0.48 ± 0.09, p < 0.05, respectively), but with less extent than photopic VA. Mesopic LC‐VA was not significantly different between diabetics and controls (0.94 ± 0.11 and 0.91 ± 0.06).ConclusionsDistance photopic high contrast and low contrast VA, and mesopic HC‐VA were able to detect the worsening of VA in type 2 diabetics before any signs of retinopathy can be detected.
The effect of panretinal photocoagulation and additive Intravitreal bevacizumab injections on central retinal vessel diameters in diabetic retinopathy
Authors: Park J.M. , Lee S.J. 
Published: September 2015

PurposeTo evaluate the effect of Panretinal photocoagulation and additive Intravitreal bevacizumab injections on Central retinal vessel diameters in Diabetic retinopathy.MethodsChanges on central retinal vessel diameters were restrospectively analyzed before and 6 month after panretinal photocoagulation with or without additive Intravitreal bevacizumab injections in patients first diagnosed with diabetic retinopathy. Vessel diameters were measured using IVAN soft ware and Big6 fornula.Results21 patients were enrolled, mean age 54.9 years. There were significant decreases in central retinal artery diameters in both groups, with and without additive Intravitreal bevacizumab injections, 6 months after completion of panretinal photocoagulation(p < 0.05), but no significant changes in central retinal vein diameters. Additive Intravitreal bevacizumab injections did not bring the significant changes in central retinal vessel diameters before and after 6 months, compared to vessel diameters treated with panretinal photocoagulation only (p < 0.05).ConclusionsPanretinal photocoagulation has effects on changes of central retinal artery diameters but not central retinal vein diameters, and additive Intravitreal bevacizumab injections did not cause significant additive changes on central retinal vessels in this study. meters before and after 6 months, compared to vessel diameters treated with panretinal photocoagulation only(p < 0.05).
Research on ophthalmic examination apparatus to diagnose multiple diseases which result in loss of eyesight
Authors: Suzuki N. , Yamane K. 
Published: September 2015

PurposeIn Japan, the four major diseases which cause the loss of eyesight are glaucoma, diabetic retinopathy, pigmentary retinal degeneration, and age‐related macular degeneration. We developed an ophthalmic examination apparatus having the functions of fundus camera, microperimetry, electroretinography, and visual acuity testing, designed to diagnose multiple diseases which result in loss of eyesight.MethodsWe constructed the experimental device with the same optical system as a fundus camera. The device has previously been used for research involving the diagnosis of early diabetic retionopathy. The microperimetry optical system was calculated using the optical engineering software OpTalix‐LT and was added to the experimental device. In addition, we added an Edmund infrared camera EO‐0413, a lens with a focal length of 25 mm, a 45‐degree cold mirror, a 12V/50W halogen lamp, and an 8‐inch monitor. The artificial eye consists of a plane‐convex lens, a black spacer, and a hemispherical cup. A small section paper was stuck on the bottom of the hemispherical cup. The artificial eye was photographed for 10 times using the experimental device. The software was generated to show the examination target on the monitor and save examination data using C++Builder XE6.ResultsThe device was able to show the retinal fundus on the monitor, at a length and width of 1 mm with a resolution of 63.25 ± 3.51 and 64.13 ± 6.10 pixels, respectively.ConclusionsWe succeeded in adding the function of microperimetry to the experimental ophthalmic device.
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa
Authors: Habibi I. , Chebil A. , Kort F. , Munier F. , Schorderet D. , El Matri L. 
Published: September 2015

PurposeThe aim of this study was to identify the gene causing retinitis pigmentosa (RP) in a Tunisian family.MethodsThree members of a consanguineous Tunisian family were clinically examined and were given best‐corrected visual acuity (BCVA), slit lamp biomicroscopy, fundus photography and optical coherence tomography scanning (OCT) testing. Blood samples were collected for DNA extraction. Regions of homozygosity were further analyzed in the index case and whole exome sequencing was performed. All detected mutations in candidate genes were validated by Sanger sequencing.ResultsThe phenotype was characterized by hemeralopia starting in the first decade of life. BCVA ranged from 20/100 to 20/40. Fundus examination revealed typical RP changes with bone spicule‐shaped pigment deposits in the mid periphery along with atrophy of the retina, narrowing of the vessels and waxy optic discs. Tomograms showed macular edema. They also had high myopia and posterior subcapsular cataract. Mutation analysis in the region of homozygosity identified a c.653‐1G>T mutation in the canonical splice site of exon 5 of the zinc finger protein 408 (ZNF408) gene. All three affected members were homozygous for this mutation.ConclusionsSo far, only two different mutations have been identified (Avila‐Fernandez et al, Hum Mol Genet. 2015). This family represents the third case of ZNF408 mutations and further expands the clinical spectrum ofmutations.
Hypoxia induces an inflammatory response in ARPE‐19 cells
Authors: Arjamaa O. , Aaltonen V. , Piippo N. , Kaarniranta K. , Kauppinen A. 
Published: September 2015

PurposeTo characterize further the link between hypoxia and inflammation in retinal diseases, we studied here the effects of hypoxic exposure on the secretion of inflammatory cytokines from ARPE‐19 cell culture, pretreated with lipoplysaccharide (LPS, to induce inflammation).MethodsARPE cell culture was exposed to 24 h hypoxia, 24 h hypoxia followed by 24 h reoxygenation, and 24 h or 48 h normoxia with or without LPS. Experiments were performed using culture medium DMEM/F‐12 supplemented with penicillin, streptomycin and L‐glutamin without or serum and with or without LPS. Each treatment was repeated 6 times. Hypoxia (37 C, 1% O2, 5% CO2, 90% moisture) was induced in Ruskinn Invivo2 workstation, and normoxia and reoxygenation (37C, air, 5% CO2, 90% moisture) in a standard cell culture incubator. The culture media and cell lysates were collected under hypoxic or normoxic atmosphere, centrifuged and snap frozen for storage and further analyses. VEGF and cytokines were measured with ELISA and intracellular proteins (autophagy markers p62, LC3 and oxidative stress marker Nrf2) with immunoblotting.ResultsAs expected, hypoxic conditions increased significantly the secretion of VEGF from ARPE‐19 cell culture as compared to the secretion in normoxic conditions. Also, the secretion of IL‐6 and IL‐8 showed a significant increase in hypoxia when measured at 24 h. The intracellular protein levels were changed: p62 increased while LC3 and Nrf2 decreased in hypoxia (at 6 h).ConclusionsAn acute exposure to hypoxia induced an inflammatory response in ARPE‐19 cell culture as characterized with an increased IL‐6 and IL‐8 secretion from cell culture. Intracellularly, the autophagic response decreased (seen with the increase of p62 and with the decrease of LC3) and the oxidative stress increased (seen with the decrease of Nrf2).
Female heterozygotes of X‐linked ocular disease in the era of molecular diagnostics
Authors: KREPS E.O. , De Zaeytijd J. , De Baere E. , Leroy B.P. 
Published: September 2015

PurposeTo investigate the accuracy of recognizing female heterozygotes for X‐linked retinitis pigmentosa (XLRP) and choroideraemia (CHM) using fundoscopy and blue‐light fundus autofluorescence (FAF).MethodsRetrospective analysis revealed 26 female XLRP heterozygotes from 17 different families (age 3–77 years) and 8 CHM heterozygotes from 5 families (age 14–65 years). Molecular diagnosis has been obtained for all subjects.ResultsIn XLRP, 17 of 26 patients (65.4%) mentioned nyctalopia. RPGR mutations were identified in 18 subjects – 9 of which in ORF15 – whereas a causative mutation was found in RP2 in the remaining 8 subjects. Dilated fundoscopy showed no abnormalities in 8 subjects, a tapetoid reflex in 2, regional pigmentary changes in 16 and full‐blown RP features in 2 patients. An abnormal FAF pattern was found in 18 of 26 patients (69.2%). Of the 26 molecularly proven heterozygotes, 23 (88.5%) showed abnormalities on fundoscopy and/or FAF. In CHM, only 1 of 8 patients – aged 40 – mentioned visual difficulties at night. In each of the 8 subjects, equatorial mottled pigmentary changes were evident. FAF revealed multiple hyper‐ and hypoautofluorescent flecks in all 8 patients. In both XLRP and CHM, clinical findings were independent of age or specific mutation.ConclusionsFemale heterozygotes of XLRP show abnormalities on dilated fundoscopy and/or blue‐light fundus autofluorescence in 88.5% of cases with a molecularly proven diagnosis. The most characteristic feature is a radial pattern of alternating areas of hyper‐ and hypoautofluorescence. In CHM, all carriers exhibit pigmentary changes in the retinal midperiphery and scattered autofluorescence changes, despite a lack of visual symptoms.
The P2X7 receptor is a potential therapeutic target for the treatment of Uveitis
Authors: Tempest‐Roe S. , Tam F. , Taylor S. 
Published: September 2015

PurposeAdenosine‐5′‐triphosphate (ATP) functions as an important extracellular messenger and plays a critical role as a danger signalling molecule during inflammation. In pathological conditions damaged cells leak high concentrations of ATP into the extracellular milieu, activating P2 Purinergic receptors which are highly expressed on immune cells. Pathological stimulation of the P2X7 receptor may be involved in the development of autoimmune disease, so we explored the impact of P2X7R antagonist treatment on the development of Experimental Autoimmune Uveitis (EAU) in mice.MethodsEAU was induced in P2X7‐/‐ and wild‐type mice using IRBP peptide 1‐20(GPTHLFQPSLVLDMAKVLLD) with adjuvant Bordetella pertussis toxin. All procedures were performed under a Home Office License in accordance with the regulations of UK ASPA (1986). EAU was then induced in B10.rIII mice with RBP‐3 161‐180 (SGIPYIISYLHPGNTILHVD) and adjuvant Bordetella pertussis toxin. P2X7R antagonist A439079275 or vehicle were injected i.p. twice daily from day 12. p.i when clinical features of EAU manifested. Disease activity was observed through TEFI imaging and animals were treated until peak disease and termination at day 16 p.i.ResultsP2X7R deficiency protected against the development of EAU, with disease scores significantly lower in P2X7‐/‐ animals compared to control animals. P2X7R antagonist treatment with A439079 prevented development of severe EAU with disease scores in A439079 treated animals significantly lower than vehicle treated animals.ConclusionsP2X7R deficiency protects against the development of EAU in mice and P2X7R antagonist can ameliorate established disease. The P2X7R may represent a viable therapeutic target for ocular inflammatory disease.
Estimated cerebrospinal fluid pressure and trans‐lamina cribrosa pressure difference in open angle glaucoma. The Korea National Health and Nutrition Examination Survey 2009‐2012
Authors: Lee S.H. , Kwak S.W. , Kang E.M. , Hong S. , Seong G.J. , Kim C.Y. 
Published: September 2015

PurposeTo investigate associations of estimated cerebrospinal fluid pressure (CSFP) and trans‐lamina cribrosa pressure difference (TLCPD) with glaucomatous optic neuropathy in a population‐based setting.MethodsA total of 6656 adults (≥40 years) who participated in the Korea National Health and Nutrition Examination Survey (KNHANES) from 2009 to 2012 were included. Subjects were divided into non‐glaucomatous and glaucomatous group, and glaucomatous subjects were further divided into normal tension glaucoma (NTG) group and high tension glaucoma (HTG) group. Based on a previous study with lumbar CSFP measurements, CSFP was estimated as CSFP (mmHg) = 0.55 Body Mass Index(kg/m2) + 0.16 Diastolic Blood Pressure(mmHg)‐0.18 × Age(years)−1.91. TLCPD was calculated as intraocular pressure (IOP)‐CSFP. Differences in estimated CSFP and TLCPD were assessed between the non‐glaucomatous and glaucomatous groups.ResultsIn the non‐glaucomatous population (n = 6016), mean estimated CSFP was 11.38 ± 3.11 mmHg and mean TLCPD was 2.54 ± 3.83 mmHg. When compared to the glaucoma group (n = 640), lower IOP (p < 0.001), higher CSFP (p < 0.001), and lower TLCPD (p < 0.001) were observed in the non‐glaucomatous group. Differences between glaucomatous subjects and non‐glaucomatous subjects in estimated CSFP, TLCPD, and IOP were greater for the HTG subjects than for the NTG subjects.ConclusionsEstimated CSFP and TLCPD may play a significant role in pathogenesis of NTG and HTG.