bluuebunny/crossref_metadata_2025_split huggingface dataset:
Preliminary results: Comprehensive national retinoblastoma cohort in Finland ‐ RB1 mutation spectrum
Authors: Nummi K. , Kivelä T. 
Published: September 2017

AbstractPurposeRetinoblastoma (Rb), a malignancy of developing retina, emerges almost always after biallelic mutation and inactivation of tumor suppressor gene RB1. In heritable Rb, a child carries germline RB1 mutation. Identifying this will help in future risk management and family planning. Recently, we have made an effort to create a comprehensive national register for Rb. DNA sequencing for mutations in RB1 is being offered to every patient not previously tested and the results are included in the register.MethodsOf the 226 Rb patients registered in the Finnish Retinoblastoma Register until January 2016, 72 have so far underwent germline DNA testing and 40 patients from 32 unrelated families tested positive for mutation. RB1 mutation detection methods varied depending on the time period. Mutations were checked for pathogenicity from the Leiden Open Variation Database (http://rb1-lsdb.d-lohmann.de).ResultsRB1 mutations comprised 90% of heritable (bilateral, familial or both) Rb and 10% were sporadic unilateral tumors (unifocal or too advanced to assess focality). The distribution of mutation types was 46% nonsense, 15% frameshift, 15% splice site, 3% large indel, 8% missense, 13% chromosomal deletions and none promoter. Two novel mutations (c.1A>C and c.2042_2203+?del) were detected. Five mutations (13%) had been reported only once and nine mutations (23%) three times or less.ConclusionsThe frequencies of the type of mutation in the RB1 gene in the preliminary results of our national cohort expectedly follow the mutation spectrum described worldwide.
Adult orbital precursor B‐lymphoblastic lymphoma with involvement of the extraocular muscles
Authors: Mikkelsen L.H. , Ejstrup R. , Clasen‐Linde E. , Andersen M.K. , Gjerdrum M.L.R. , Heegaard S. 
Published: September 2017

PurposeTo report a very rare case of a precursor‐B Lymphoblastic lymphoma (pre‐B‐LBL) with periocular muscle involvement in an adult. The clinical, histopathological, and genetic findings will be reported.MethodsCase report, Immunohistochemistry, FISH, and ArrayCGH.ResultsA 56‐year‐old male experienced sudden onset of left sided ptosis and diplopia. Pain was not prominent. The patient had complete remission of an abdominal pre‐B‐LBL. On examination, proptosis and a left sided third cranial nerve palsy was found. After a few days, mydriasis without rapid afferent pupillary defect developed. MRI showed thickening of the medial and inferior rectus muscles. A biopsy of the inferior rectus muscle was obtained for histopathological examination. Histologically, an infiltrate of immature lymphocytic tumour cells was seen within the orbital skeletal muscle tissue. The tumour cells were small and presented with fine blastic nuclear chromatin along with small peripheral nucleoli. The tumour cells stained positively for CD10, CD79a, PAX5, and BCL‐2. The Ki‐67 proliferation index was 90%. These findings were consistent with a TdT‐negative pre‐B‐LBL relapse. FISH was negative for BCR/ABL, MLL‐rearrangement, and ETV‐6‐break. ArrayCGH was performed. A bone marrow biopsy confirmed systemic involvement. The patient was immediately started on NOPHO High Risk chemotherapy, followed by orbital radiation and awaits allogeneic bone marrow transplantation. The patient has no light perception in his left eye.ConclusionsThis is the first reported case of a very rare rapid growing orbital pre‐B‐LBL in an adult.
Method for assessing the impact of residual roughness after corneal ablation in perception and vision
Authors: Verma S. , Hesser J. , Arba‐Mosquera S. 
Published: September 2017

PurposeDespite theoretical models for achieving laser‐based ablation smoothness (Invest Ophthalmol Vis Sci. 2017;58:2021–2037), methods do not yet exist for assessing the impact of the residual roughness after corneal ablation, in perception and vision. As solution, we propose a method to convert wavefront aberrations with associated roughness, to a visual point spread function (PSF), to calculate the polychromatic retinal image.MethodsUsing SCILAB (Scilab Enterprises, Versailles, France) patient‐specific Zernike expansion coefficients and Pupil diameter were used to calculate the wavefront including chromatic compensation for the Red, Green and Blue channels (Optom Vis Sci 2003;80:6–14). Random noise was added to the calculated wavefront to simulate roughness in the cornea after laser ablation, within user‐defined limits. PSF of the eye was calculated for Red, Green and Blue channels and the retinal image was determined, as weighted combination of different color channels. Several corneal roughness conditions were compared in terms of the calculated perceived image quality based on metrics like Michelson Contrast, Weber Contrast and Modulation Transfer Function.ResultsFor a constant roughness term, reducing the pupil size resulted in sharpening the PSF and perceived retinal image. The impact of varying roughness in ablation could be quantified through the calculated image quality metrics, deteriorating dramatically with increasing roughness.ConclusionsThe proposed model can be used for quantifying the impact of residual roughness in corneal ablation processes at relatively low cost. This method can help compare different refractive laser platforms in terms of their associated roughness in ablation, indirectly improving the quality of results after Laser vision correction surgery.
In vivo evaluation of voriconazole eye drops efficacy in a rat Acanthamoeba polyphaga keratitis model
Authors: Gueudry J. , Le Goff L. , Compagnon P. , Lefevre S. , Camille A. , Duval F. , Francois A. , Razakandrainibe R. , Favennec L. , Muraine M. 
Published: September 2017

PurposeAcanthamoeba keratitis is a sight‐threatening infectious disease. Its effective and safe medical therapy remains highly debated. The aim of this study is to test in vitro and in vivo voriconazole as a potential antiamoebic treatment for Acanthamoeba keratitis.MethodsIn vitro sensitivity of Acanthamoeba polyphaga to voriconazole was assessed using a commercially available viability assay. In vivo, Sprague‐Dawley male rats were injected in the left cornea stromal layer with trophozoites. Forty rats were divided into 3 groups, topically treated with 1% voriconazole eyedrop (hourly administrations for 3 days followed by every two hours for 11 days and followed every four hours for 7 days), orally treated with voriconazole (60 mg/kg/day), and control. At day 28, cornea and blood samples were collected and corneal scrapings were performed for bacterial and parasitological cultures and real‐time PCR analyses. Paraffin‐embedded corneas were analyzed. The plasma and corneal concentration of voriconazole was determined by high‐performance liquid chromatography.ResultsIn vitro, voriconazole inhibited Acanthamoeba polyphaga trophozoites proliferation with IC90 value of 6 μg/ml, however no cystical activity was found. Mean intracorneal concentration of voriconazole eyedrops after three days treatment was 5.6 +/‐ 4.4 ng / mg; after seven days treatment was 2.38 + /1.6 ng/mg; and after twenty one days treatment was 0.32 +/‐ 0.15 ng / mg. Clinical infection worsened in fewer rats between the 7th and the14th day post infection in the voriconazole eye drops group (1/10 rats) and the control group (9/10 rats) (p = 0.001).ConclusionsOur findings support the potential use of voriconazole as anti‐amoebic agents.
Prevalence of refractive errors and visual impairment in university students
Authors: Yekta A.A. , Hashemi H. , Khabazkhoob M. , Ali S.B. , Ostadimoghaddam H. , Heravian J. , Azimi A. , Momeni‐Moghaddam H. 
Published: September 2017

PurposeTo determine the prevalence of refractive errors and visual impairment in a population of university students in Kazerun, south of IranMethodsUsing multi‐stage sampling in all universities located in Kazerun, a number of university majors were selected as clusters. Then, proportional to the size, a number of students in each major were randomly selected to participate in the study. All participants underwent the measurement of visual acuity, non‐cycloplegic and subjective refraction, and corrected visual acuity. A spherical equivalent equal to or worse than −0.5 D and + 0.5 D was considered myopia and hyperopia, respectively. Astigmatism was defined as a cylinder power worse than −0.5 D. Visual impairment was defined as visual acuity worse than 20/60 in the better eye.ResultsOf 1595 students that were invited, 1462 participated in the study (response rate = 91.66%). The prevalence of visual impairment was 2.19% (95% CI: 1.48–3.23), of whom 1.92% (95% CI: 1.27–2.88) had low vision and 0.27% (95% CI: 0.12–0.62) were blind. Refractive errors comprised 75% of the causes of visual impairment. The prevalence (95% CI) of myopia, hyperopia and astigmatism was 42.71% (39.71–45.77), 3.75% (2.85–4.51) and 29.46% (27.50–31.50), respectively. Totally, 49.03% (95% CI: 46.39–51.68) of the participants had at least one refractive error. Myopia and hyperopia were not correlated with age and gender. The odds of astigmatism in participants aged 26–27 years (OR = 1.64; 95% CI: 1.03–2.61) was higher than subjects aged 18–19 years.ConclusionsThe prevalence of refractive errors, especially myopia is low in university students. Since refractive errors constitute a major part of visual impairment, university students should receive optical services to reduce their burden.
Clinical and genetic study of a new mutation in the choroidoremia gene
Authors: Idoate A. , Sanchez Marín J.I. , Bartolome Sese I. , Berniolles Alcalde J. , Lopez Sangros I. , Marco Monzon S. , Ascaso Puyuelo J. , Pinilla Lozano I. , Ibañez Alperte J. 
Published: September 2017

PurposeTo describe retinal findings as well as spectral domain OCT and fundus autofluorescence in a new genetic mutation in a choroidoremia family.MethodsAn 11 year old boy was diagnosed with choroidoremia by his fundus changes. In his mother′s family there was another cousin with the same symptoms and his grandfather and great grandfather had an impaired vision. The family was studied.ResultsThe boy has a reduced visual acuity of 20/40 in both eyes with ‐6D, reduced sensibility in his perimetry, and important retinal pigment changes in his fundus. SD‐OCT findings include changes in the external hyperreflective layers and hypofluorescence and hyperfluorescence changes in his fundus autofluorescence. His mother showed a normal OCT with hypofluorescence changes. His cousin, who was 13 years old, showed similar changes with a 20/20 vision and no myopic defect. The boys were hemizygous for a novel mutation c.1083_1084dupT of the CHM gene. The mutation was confirmed in heterozygosity in both carriers. The sister was not affected.ConclusionsClinical diagnosis and molecular analysis showed the new mutation leading to loss of function of the REP‐1 protein. Autofluorescence changes were presented in both patients and carriers. Myopia could increases the visual loss and pigment changes in choroidoremia.
Dexamethasone intravitreal implant combined with anti‐VEGF in patients with neovascular age related macular degeneration resistant to anti‐VEGF alone
Authors: Damico Ricci G. , Giancipoli E. , Boscia F. , Zasa G. , Sotgiu G. , Dore G. , Pinna A. 
Published: September 2017

PurposeTo evaluate the efficacy and safety of a single intravitreal Dexamethasone implant (DXI) combined with anti‐vascular endothelial growth factor (anti‐VEGF) therapy, in patients with neovascular age related macular degeneration (wet‐AMD) resistant to the conventional treatment.MethodsIn this prospective, randomized, controlled pilot study 16 eyes of 15 patients, unresponsive to previous anti‐VEGF therapy, were enrolled. Patients were randomly assigned to three groups: DXI + Pro Re Nata (PRN) anti‐VEGF, DXI + monthly anti‐VEGF, and monthly anti‐VEGF alone. Each patient was treated at baseline, according to the assigned treatment, and followed up to 180 days. Primary outcomes were: complete regression of retinal fluid and best corrected visual acuity (BCVA) change. Secondary outcomes were: safety of the treatment, the change of median central foveal thickness (CFT) and macular volume. Correlations between anatomical features and visual function were also assessed.ResultsEyes distribution was: 5 in DXI + anti VEGF PRN; 6 in DXI + monthly anti‐VEGF (treatment group), and 5 in monthly anti‐VEGF. BCVA showed no significant change from baseline in both the treatment and control group. Eight eyes (72.7%) in the treatment group showed complete retinal fluid resorption versus 2 eyes (40%) in the control group (p = 0.049). Both median CFT and macular volume showed a greater reduction from baseline in the treatment group. BCVA significantly correlated with the outer retinal layers status (rho = 0.82; p = 0.0001) and pattern of retinal fluid (rho = −0.59, p = 0.02). Several eyes in the treatment group experienced a transient increase of the intraocular pressure.ConclusionsA combined approach with DXI and intravitreal anti‐VEGF may be a feasible option for those wet‐AMD patients with an incomplete response to anti‐VEGF therapy.
Bevacizumab‐treated diabetic macular edema: a pilot yearlong analysis of anatomic and functional outcomes from a referral center in Portugal
Authors: Leitão P. , Bettencourt S. , Trincão F. , Santos P. , SOUSA D.C. , Genro V. , Abegão Pinto L. , Raposo J. 
Published: September 2017

PurposeThere is high quality evidence that antiangiogenic drugs are a valuable option on diabetic macular edema (DME) treatment. However, evidence under real‐world conditions is lacking. This paradigmatic pilot study aims to characterize and discuss the 1‐year functional and anatomic response of intravitreal bevacizumab in DME.MethodsObservational retrospective study. Clinical charts from consecutive patients referred from the Lisbon and Tagus valley region (Portugal) between Jan‐2014 and Dec‐2015 were reviewed. All patients who underwent intravitreal injection of bevacizumab for DME were analyzed. Efficacy outcomes were i) visual acuity (VA) improvement (i.e. halving the visual angle or doubling the decimal value), and ii) a 10% or higher decrease in central macular thickness (CMT), both after a 12‐months follow‐up period. Statistical analysis were performed using STATA.ResultsA total of 107 eyes of 84 patients, with a mean age of 66.0 ± 8.8 years were studied. Mean time elapsed since diabetes diagnosis was 19.1 ± 7.9 years, and mean HbA1c levels were 8.1 ± 1.2%. Baseline VA improved from 0.35 ± 0.22 at baseline to 0.39 ± 0.25 after 12 months (P < 0.05). Also CMT significantly decreased from 464 ± 144 to 379 ± 144 μm one year after injection. The rate of VA and CMT improvement was 31% and 48%, respectively. A non‐statistically significant trend was observed for better outcomes in patients who were concomitantly treated with either focal laser or intravitreal triancinolone. No differences were noted considering the loading dose. No major complications were observed.ConclusionsThis pilot study suggests intravitreal bevacizumab was effective in the DME treatment of our cohort, with a good safety profile. A longer follow‐up and larger sample will help building better evidence to DME management.
Treatment of diabetic macular edema with micropulse laser therapy
Authors: El Matri K. , Chebbi Z. , Falfoul Y. , Kortli M. , Hassairi A. , Chebil A. , El Matri L. 
Published: September 2017

PurposeThe aim of the present study is to investigate the effect of Micropulse Laser Therapy (MP) in the treatment of diabetic macular edema (DME).MethodsForty eyes from 25 patients with clinically significant DME were included in the study. We used MP as first‐line therapy in cases of diffuse DME if central macular thickness (CMT) was < 300 μm.However, if DME was diffuse and CMT was >400 μm, we began anti‐VEGF therapy to reduce CMT and improve vision as quickly as possible.We started with MP also in patients who refused intravitreal anti‐VEGF injections, whom compromised systemically or those for whom they are not effective.Best corrected visual acuity (BCVA) and central macular thickness (CMT) were measured before, 3, 6 and 12 months after intervention, and the results were compared.ResultsMean age of our patients was 60,1 years. Mean BCVA was 0.67 ± 0.37 Logmar before treatment.After three months of MP, it improved to de 0.55 ± 0.4, p = 0.024. CMT was 511.79 μm, and improved to 481.8 μm (p: 0.055) at 3 month after treatment and to 410 μm at 6 months (p: 0.004) and 257.21 μm at 12 months (p = 0.002).OCT detected early retinal reflectivity changes after treatment. All patients reported subjective improvement. No adverse events were observed during follow‐upConclusionsIn this study, MP laser seems to be an effective laser to treat DME.Its attractive safety profile allows clinicians to offer earlier treatment to prevent tissue damage and the development of visual disability.
Changes in retinal vessel diameters after intravitreal aflibercept in patients with diabetic macular edema
Authors: Blindbæk S.L. , Peto T. , Grauslund J. 
Published: September 2017

PurposeTo evaluate changes in retinal vessel diameters after loading doses with intravitreal aflibercept in patients with diabetic macular edema (DME).MethodsThis was a three months prospective, interventional study. We included 17 patients with DME, central retinal thickness >300 μm and no active proliferative diabetic retinopathy. Previous treatment with any intravitreal vascular endothelial growth factor inhibitor was not allowed within 4 months prior to inclusion. All patients received 3 monthly intravitreal injections of aflibercept, and vessel diameters were evaluated at baseline and four weeks after the last injection. Retinal arterial and venous diameters were measured in 50‐degree disc‐centered images using the Oxymap model T1 (Oxymap, Reykjavik, Iceland) as the average diameter of the four major arterioles and venules from the four quadrants. Paired t‐test was used to test for differences in mean oxygen saturations from baseline to follow‐up.ResultsMedian age and duration of diabetes were 59.5 and 2.6 years at baseline. Median HbA1c and CRT were 65 mmol/mol and 336 μm, respectively, and 23.5% were women. Venous diameter decreased from baseline to follow‐up (157.9 μm vs. 153.2 μm, p = 0.03), whereas arterial diameter was unchanged (115.4 μm vs. 116.1, p = 0.70).ConclusionsRetinal venous diameter decreased after treatment with 3 monthly intravitreal injections of aflibercept in patients with DME, whereas no difference was found in the retinal arterial diameter. As previous studies have demonstrated that retinal venules dilate with increasing severity of diabetic retinopathy, our results suggest that treatment with intravitreal aflibercept causes positive changes to retinal vessel geometry.
OCT Angiography in angioid streaks without neovascular complications
Authors: El Matri K. , Falfoul Y. , Hassairi A. , Chebil A. , Ammari M. , El Matri L. 
Published: September 2017

PurposeTo describe the features of angioid streaks (AS) without neovascular complications using swept source optical coherence tomography.MethodsThis is a retrospective observational study.All patients underwent slit‐lamp and fundus examination, fundus photos, swept source optic coherence tomography (SS‐OCT) and OCT angiography (OCT‐A).Comparisons were made between en face OCT and OCT‐A images.ResultsSeven eyes had AS without neovascular complications, foveola was involved by the streak in 3 eyes of them.In en face OCT, we found hyper‐reflective points in 5 eyes in the deep plexus (DP), and in 2 eyes in the choriocapillaris (CC) giving a shadow in the level of the choriocapillaris in the corresponding OCT‐A.In the outer retina (OR), Streaks were detectable in patients having macular involving AS as hyposignal in the OR and the CC.Also, 5 eyes had CC diffuse rarefaction (CR) that seems more extensive than the masking from the hyper‐reflective material visible in the DP on en face‐OCT.An irregular vascular network (IVN), different from choroidal neovascularisation (CNV), was detected in 3 eyes with AS involving the macula in the level of the OR and CC. This IVN fills spaces between streaks. On structural OCT, it corresponds to flat elevation of the retinal pigmentary epithelium (RPE) with hyper reflective accumulations between the RPE and the Bruch membrane (BM).ConclusionsThis imaging tool provides new information about AS.We illustrate different findings including hyper reflective deposits, CR and IVN.CR suggests early and severe involvement of all the CC.
Clinical significance of subretinal hyper‐reflective material in retinal angiomatous proliferation patients
Authors: Kim J.M. , Lee K.B. , Jung J.J. , Han J.I. 
Published: September 2017

PurposeTo evaluate the association of subretinal hyper‐reflective material(SHRM) with visual acuity(VA) in Retinal angiomatous proliferation(RAP) patients treated with anti‐VEGF.Methods38 Patients(38 eyes) diagnosed with RAP were included in the study and retrospective chart review was done. Optical coherence tomography(OCT) and VA measurement was conducted at initial diagnosis, 6 months follow up and 12 months follow up. Measurement of SHRM height and width were obtained on each OCT image. Comparison of SHRM existence, height and width with VA was done.ResultsVA after anti‐VEGF treatment was associated with initial VA(p = 0.024) and existence of SHRM(p = 0.045) at baseline, while SHRM height and width were not statistically significant.ConclusionsExistence of SHRM at baseline and initial VA in RAP patients could be a prediction factor of the final VA treated with anti‐VEGF.
Ocular manifestations associated with takayasu arteritis: a multimodal imaging study
Authors: Chotard G. , Diwo E. , Coscas F. , Saadoun D. , Domont F. , Le Hoang P. , Bodhagi B. 
Published: September 2017

PurposeThe goal of this study was to describe ophtalmological features of Takayasu disease on fundus exam, in fluorescein angiography and OCT angiography.MethodsAll patients diagnosed with Takayasu disease and followed in la pitié salpétrière hospital from 2004 to 2016 were restrospectively included. They underwent a complete ophtalmological exam including best correct visual acuity, slit‐lamp biomicroscopy, fundoscopy and multimodality imaging including fluorescein angiography and SD OCT. Most patients underwent OCT angiography.The images were analyzed to evaluate perifoveal anastomotic capillary arcade disruption, capillary perifoveolar density, mivroaneurysms. The foveal avascular zone (FAZ) was measured for superficial (SCP) and deep (DCP) capillary plexus.Results26 eyes were included. Most frequent anomalies were retinal microaneurisms (6 patients). Stage I retinopathy was seen in 5 eyes; stage II in 10, stage III in 2 and stage IV in 3 eyes. 14 eyes underwent OCT Angiography. 11 eyes of 6 patients presented with ruptures of the perifoveal anastomotic capillary arcade in SCP. 5 eyes had microaneurysms. 11 eyes of 6 patients had rarefaction of the perifoveolar vascular density in SCP. The average measure of the SCP FAZ was increased to 0.34 mm2 (0.19–0.74) in takayasu patients compared to 0.27 mm2 (0.18–0.33) in the patients with no maculopathy.ConclusionsMacular abnormalities are uncommon in patients with Takayasu disease as the retinopathy signs are most likely located in the peripheric retina. This study reveals that most of our patients present an enlargement of the FAZ, even in the earliest stages of retinopathy with no macular abnormality on fluorescein angiography. The study finally highlights the relevance of using OCT A to evaluate the macular ischemia as a complement to usual retina global study in fluorescein angiography.