bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring molecular mechanisms underlying Fuchs endothelial corneal dystrophy and their relevance to therapeutic interventions
Authors: Davidson A. 
Published: September 2017

SummaryFuchs endothelial corneal dystrophy (FECD) is an age‐related degenerative condition characterised by bilateral progressive loss of corneal endothelial cell (CEC) function leading to severely impaired vision. An unstable intronic tri‐nucleotide CTG repeat expansion within the transcription factor‐encoding gene, TCF4, has recently been discovered to account for more than 70% of cases. An overview of our current understanding of the genetics of FECD, as well as the underlying molecular mechanisms responsible for the disease pathology will be provided. Furthermore, future potential avenues for targeted therapeutic interventions will be discussed in context of what has already been learnt from the broader field of non‐coding repeat expansion disease, well‐established causes of both neuromuscular and neurodegenerative disorders.
Novel tissue‐targeted localized corneal gene therapy
Authors: Mohan R. 
Published: September 2017

SummaryThis presentation will provide an overview of corneal gene therapy and stipulate novel bench‐to‐bedside translational strategies for human application. The talk will include information about identified potent adenoassociated virus (AAV) and nanoparticle vectors, simple and minimally invasive vector delivery techniques for delivering genes into desired corneal cells, and defined gene therapy approaches for introducing therapeutic genes selectively into corneal keratocytes or endothelium in vivo through single application of vector employing customized delivery techniques. Further, talk will discuss cornea‐specific mechanisms driving pathologic process, novel molecular targets for interrupting TGFb1 signaling pathways, and therapeutic genes identified from basic‐science corneal wound healing investigations performed in my lab laboratory using established small and large animal and donor human corneas. Finally, it will show potential of single‐ and two‐gene combination therapy given locally in the cornea via optimized methods in inhibiting and eliminating corneal scarring and neovascularization in vivo in preclinical rabbit studies. The optimized gene therapy approaches could be easily applied in a clinical setting, if safety and toxicity are proven.
Life as a junior postdoc in ophthalmology and neurobiology research: challenges and opportunities
Authors: De Groef L. 
Published: September 2017

SummaryWhile equally represented in scientific courses at the age of 16–19 years, only 28% of researchers are women – according to the UNESCO report on science in 2030 (2015) – and only 3% of the Nobel Prizes for Science (6% for Medicine) have been awarded to women. Despite the progress that has been made, glass ceilings still appear to hinder the career of woman in science, female top scientists still miss out recognition for their work, and the scientific community – especially leadership positions – remains male‐dominated. What struggles are women in science (woman in EVER) being faced with, and how can we use creativity and innovation to overcome these issues?
Surgical treatment of traumatic macular hole
Authors: Ruban A. 
Published: September 2017

PurposeTo present the results of the treatment of traumatic macular holes.MethodsThis study is a retrospective consecutive case series of 7 patients who underwent a 25G PPV with the displacement of macular retina after subretinal balanced salt solution injection to treat traumatic full thickness macular holes (TFMH). The efficiency was evaluated by the anatomical macular hole closure rate and best‐corrected visual acuity (BCVA) during follow‐up visits. The degree of retinal displacement was accessed by comparing the preoperative and postoperative fundus photographies.ResultsComplete closure of macular hole was achieved in 85,7% and 14,3% had partial closure. Average macular hole diameter was (825 μm). Visual acuity after surgery in the total group was significantly increased. All patients revealed a negative correlation between postoperative visual acuity and the time elapsed from the moment of the trauma, and a strong positive correlation between the macular hole size and elapsed time from the injury. There were no intraoperative or postoperative complications.ConclusionVitrectomy with the «retinal displacement» technique may be an effective addition to surgical options for treating traumatic macular holes.
Intraoperative OCT for inverted ILM flap technique
Authors: Lytvynchuk L. 
Published: September 2017

PurposeTo evaluate the use of intraoperative spectral‐domain optical coherence tomography (iSD‐OCT) for large macular hole (MH) surgery using inverted internal limiting membrane (ILM) flap technique.MethodsWe analyzed 7 consecutive cases of iSD‐OCT assisted pars plana vitrectomy (PPV) with inverted ILM flap technique for large and chronic MHs. iSD‐OCT was performed using Rescan 700 (Zeiss, Oberkochen, Germany). iSD‐OCT data were post‐processed and analyzed postoperatively (study of tissue behavior).ResultsIn all cases iSD‐OCT imaging allowed the surgeon to carry on the procedure without significant time consumption. The iSD‐OCT imaging assisted: 1) to find the safe place on the retina while starting ILM peeling; 2) to control the formation of the inverted ILM flap; 3) to conduct the inversion of the ILM flap over MH. iSD‐OCT allowed to keep safe positioning of the vitreoretinal instruments.ConclusionsiSD‐OCT is a strong supporting tool during PPV, that gives prompt information about tissue behavior and surgical maneuvers. Inverted ILM flap technique for large MH can be performed in more controlled and save way without interruption of the surgical workflow.
siRNA and regeneration
Authors: Logan A. 
Published: September 2017

SummaryCrushing the optic nerve induces death of retinal ganglion cells (RGC) by apoptosis, but suppression of CASP2, using a stably modified short interfering RNA CASP2, inhibits RGC apoptosis. Combined delivery of short interfering CASP2 and inhibition of CASP6 using a dominant negative CASP6 mutant activates astrocytes and Müller cells, increases CNTF levels in the retina and leads to enhanced RGC axon regeneration. In mixed rat retinal cultures, dominant negative CASP6 mutant + short interfering CASP2 treatment also significantly increases GFAP+ glial activation, increases the expression of CNTF, and increases the number and length of RGC neurites. These effects are abrogated by the addition of MAB228 (blocks the CNTF receptor) and AG490 (inhibitor of CNTF signalling). Similarly, in the optic nerve crush injury model, MAB228 and AG490 neutralizes dominant negative CASP6 mutant + short interfering CASP2‐mediated RGC axon regeneration, Müller cell activation and CNTF production in the retina without affecting RGC survival. We propose that axon regeneration promoted by suppression of CASP2 and CASP6 is CNTF‐dependent and mediated through the JAK/STAT signalling pathway.
Primary stromal choroiditis
Authors: Herbort C.P. 
Published: September 2017

SummaryOptimal outcome measures are necessary to monitor adequately the diverse uveitis entities and follow‐up modalities should be tailored according to the disease process. Stromal choroiditis entities are diseases predominantly involving the choroidal stroma, such as Vogt‐Koyanagi‐Harada disease (VKH) and birdshot retinochoroiditis (BRC), both considered as primary stromal choroiditis because the disease process starts within the stroma of the choroid. Sarcoidosis and tuberculous chorioretinitis are considered as secondary choroiditis, as the choroid is the innocent bystander structure where a systemic disease causes lesions Consequently a follow‐up modality capable of optimally evaluating this structure should be privileged in the assessement at presentation and for monitoring disease evolution. Among imaging modalities, the ones best accounting for choroidal stromal involvement are indocyanine green angiography (ICGA) and measurement of choroidal thickness by enhanced depth imaging optical coherence tomography (EDI‐OCT). ICGA is more suited for acute and subacute stages of disease, while EDI‐OCT useful to follow medium and long‐term evolution. The precision obtained with these modalities will be demonsrated.
Systematic laser suturolysis in post‐operative management in trabeculectomy – early results from pilot study
Authors: Mano S. , Nuno P.F. , Marques R.E. , Abegão Pinto L. 
Published: September 2017

PurposeThe early stages of a filtering surgery are usually associated with a number of procedures aimed at sustaining an optimal aqueous humour drainage. One option is to decrease the resistance to outflow by laser suturolysis of the scleral flap. We aim to explore the early effects of systematic suturolysis in efficacy and safety in post‐operative trabeculectomies.MethodsProspective interventional study enrolling patients undergoing primary trabeculectomies with mytomicinc C (0.4 mg/mL) for open angle glaucoma. A protocol in which suturolysis were done routinely if intraocular pressure greater than 10 mmHg starting at day 8 post‐operative. Only one suturolysis was done at each visit. Intraocular pressure (IOP) ‐ lowering efficiency of each suturolysis was assessed. Safety parameters were also analyzes.ResultsThirty‐one eyes of 27 patients (13 males) were enrolled with a mean age of 68 years. Pre‐operative pressure was 25 mmHg. Twenty‐nine patients underwent a suturolysis on day 8, with an IOP‐lowering efficacy of 36%. A second suturolysis, when performed (n = 17), had an additional IOP lowering of 27%. At 1 month, 3.2%, 96.8% and 51.6% of patients had 0, 1 or 2 suturolysis, respectively. Mean IOP at this period was 12.93 mmHg. During this period, there were 2 patients with choroidal detachments, and 9 patients needed an additional bleb needling with 5‐fluorouracil (5‐FU).
Iatrogenic intraocular pressure elevation after repeated intravitreal injection, a prospective cohort study
Authors: Lereuil T. , Agard E. , Elchehab H. , Dot C. 
Published: September 2017

PurposeTo report the rate of intraocular pressure (IOP) elevation after repeated intravitreal injections (IVIs) of anti–vascular endothelial growth factor (anti‐VEGF) agents and to assess its evolution over time.MethodsOur study was a prospective cohort including 221 patients (253 eyes) with exudative age‐related macular degeneration (AMD) or diabetic macular edema, undergoing ranibizumab (n =207) or aflibercept (n=44) or bevacizumab (n = 21) IVIs. Patients who received intravitreal or periocular corticosteroid injection were excluded. The incidence of ocular hypertension (OHT) after these injections was investigated with respect to the number of injections, pre‐existing open‐angle glaucoma, diabetes, YAG capsulotomy, age, and sex.Results1721 IVIs was performed. After a mean of 7.3‐4.1 IVIs (range 3‐62), 10 (4.6%) had IOP elevation more than 25 mmHg and required medical treatment, 1.4% of them spiked above 30 mmHg. 12 patients received medical treatment (10 monotherapies and 2 dual therapies), no surgical or laser treatment was required.Patients with pre‐existing glaucoma experienced higher prevalence of OHT (11.9%) and greater rates than the control group (19.3‐6.2 mmHg vs 15.6‐5.2 mmHg, p<0.001). No significant difference was found in the diabetes subgroup (81(??%, p=0.55) or in the YAG capsulotomy subgroup (32(??%, p= 0.44) compared with the control group. The IOP peak was significantly correlated with the total number of IVIs (p=0.0002). Results are consistent with previous work on the oldest cohort.ConclusionsSerial IVIs may lead to persistent IOP elevation that requires medical IOP‐lowering therapy. The risk is correlated with the number of injections and increases in the glaucoma population, therefore should be checked during follow‐up.
Macular features assessed by optical coherence tomography‐angiography after proton beam therapy for choroidal melanoma
Authors: Lumbroso L. , Sellam A. , Coscas F. , Dendale R. , Levy C. , Coscas G. , Desjardins L. , Cassoux N. 
Published: September 2017

PurposeTo characterize the macular features of patients treated with proton beam therapy for choroidal melanoma (CM), using the optical coherence tomography‐angiography (OCTA).MethodsObservational, retrospective, study included patients treated with proton beam therapy for a small CM. All the patients had undergone a full exam including: visual acuity, optical coherence tomography (OCT B‐scan) and OCTA (Spectralis Heidelberg, Germany) focused on the 10 central degrees. Only patients that had received 100% of the dose to the macula were included. Vascular features of both plexuses, of the choriocapillaris and the choroid were analyzed in OCTA.Results37 patients had undergone an OCTA following proton beam therapy for a small CM. Only 17 patients (9 men and 8 women) that had 100% of the dose to the macula were included in this study. The mean age of the patients was 56.6 years (28‐86). The mean follow‐up duration was 35.8 months (11‐72 months). The mean tumor thickness was 3.39 mm (1.3‐7 mm). 13 patients (76.5%) had a clinical radiation maculopathy, 8 patients (47.1%) had macular cysts on OCT B‐scan. All the patients (100%) had abnormalities on OCTA. Cysts were found in 9 patients (52.9%) mostly in the deep capillary plexus.The loss of the choriocapillaris was observed in 15 patients (88.2%). Choroid vessels were diminished (by size and density) in the macular area in 13 patients (76.5%).ConclusionsOCTA permits earlier detection of micro vascular alterations on both plexuses that the post radiation origin is highly probable du to the important doses receivedPatients treated with proton beam therapy for CM with 100% of the dose to the macula, present some alterations at both plexuses but also a vascular rarefaction of the choriocapillaris and of the choroidal vessel.
Neurological involvement in mitochondrial eye diseases
Authors: La Morgia C. , Caporali L. , Di Vito L. , Carbonelli M. , Valentino M.L. , Liguori R. , Barboni P. , Carelli V. 
Published: September 2017

SummaryThe most frequent mitochondrial eye diseases are Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA). They are both characterized by optic atrophy due to retinal ganglion cell loss. Extra‐ocular features have been described in both diseases. In particular, neurological involvement has been reported even though, for some of the neurological features in LHON, the possibility of a chance association is still debated.In LHON the main neurological features are: 1) Multiple Sclerosis “like” phenotype 2) Movement disorders including dystonia, parkinsonism and myoclonus 3) Peripheral neuropathy 5) Migraine 6) Hearing loss 6) “LHON‐MELAS‐Leigh” overlap.In DOA, the “plus” subtype is a well‐recognized entity characterized by the occurrence, over the decades, of optic atrophy and sensorineural deafness, polyneuropathy and myopathy with chronic external ophthalmoplegia, and in some families Parkinsonism and dementia. DOA “plus” is typically associated with missense mutations affecting the OPA1 GTPase domain, and skeletal muscle is remarkable for COX deficient fibers and mtDNA multiple deletions. More recently, a Multiple Sclerosis “like” phenotype has been described also in DOA.
Anatomy and physiology of the anterior eye segment
Authors: Werkmeister R. 
Published: September 2017

SummaryNon‐invasive, non‐contact imaging methods are essential for diagnostics and therapeutic interventions at the anterior eye segment. Given by the properties of the ocular tissues, optical modalities like optical coherence tomography and confocal microscopy are ideally suited for visualizing the morphology of the anterior segment of healthy and diseased eyes with resolutions in the micrometer range. Furthermore, advances in light source technology allow for high resolution imaging of functional parameters as for example the precorneal tear film thickness and, based on the sample reflectivity, also the evaluation of the tear film lipid layer. The presented cases show the potential of the techniques to help in clinical decision‐making and follow‐up after treatment and surgical intervention, respectively. The results indicate that the technological progress in the OCT field and new imaging developments can help to gain a novel insight in the physiology and pathophysiology of the human anterior eye segment.
The earliest eyes on Earth
Authors: Ascaso F.J. 
Published: September 2017

SummaryVision had to start somewhere. During the Precambrian Era, life existed in a quiet gloom where most creatures were blind. There was no need to be camouflaged, warn off predators or seduce a partner with bright patterns. Then, at the beginning of the “Cambrian Explosion”, 540 million years ago, life opened its eyes. Given the tremendous adaptive advantage conferred by sharp vision for avoiding predators and locating food, there must have been tremendous evolutionary pressure to elaborate and refine visual organs. Through well‐preserved Cambrian fossils (Trilobites, Anomalocaris and Fuxianhuia protensa) we will see the evolution of vision through the world's oldest eyes. With very well‐developed compound eyes, these earliest animals had a complex visual system. With up to 16,000 lenses in each eye, some of these animals saw their world with exceptional clarity whilst hunting in well‐lit waters. Only a few arthropods, such as modern predatory dragonflies, have similar resolution. We will show extraordinary fossils to reveal exquisite details about the earliest eyes on Earth.
The evolution of oculoplastic operations
Authors: Papadakis M. 
Published: September 2017

SummaryAlthough oculoplastic surgery has only recently been recognized as a subspecialty, the early origins of the interrelationship between plastic surgery and ophthalmology, trace back to the 22th century B.C. Minor eyelid operations performed by Babylonian and Assyrian physicians as well as eyebrow stitching descriptions, contained in the Egyptian Papyrus, serve as the earliest surgical attempts at oculoplastic surgery. Other ancient civilizations also provided accurate descriptions of a number of eyelid diseases, including their surgical treatment. During the Greco‐Roman period, several local flaps, e.g. the double‐pedicled and the V‐Y advancement flap, were first described. Byzantine physicians compiled, standardized and enriched the medical knowledge of their Greco‐Roman predecessors, contributing with the surgical treatment of trichiasis, lagophthalmos, ectropion, hydatids, epicanthus, pterygia, lacrimal fistulae and eyelid adhesions. The following centuries, a variety of surgical techniques were developed. Thus, modern oculoplastic surgeons, have incorporated numerous reconstructive procedures into their practice, ranging from simple local flaps to complicated mucosal or composite flaps and selective microvascular procedures.
Topo‐ and tomographical keratoconus indices in case of progression
Authors: Langenbucher A. , Szentmary N. , Eppig T. 
Published: September 2017

SummaryEspecially in an early stage topography and tomography are perfect tools for diagnosis of keratoconus. Corneal crosslinking requires a documented progression of keratoconus. In this talk we would like to address the Instrument‐based documentation of keratoconus progression for qualifying a Patient for corneal crosslinking in case of keratoconus. Special focus is given to the TMS‐5, the CASIA2 and the Pentacam.
Crosslinking in infectious keratitis‐experimental and clinical data
Authors: Szentmary N. 
Published: September 2017

SummaryThe effect of crosslinking (CXL) on human corneal cells, microorganisms and on viral, bacterial, mycotic and acanthamoeba keratitis is summarized. Keratocyte and human endothelial cell viability decreases significantly at 0.1% riboflavin concentration (P < 0.01) while the percentage of CD34 (P < 0.01) and alpha‐SMA positive keratocytes (P < 0.05) increases. CXL may be effective against Staphylococcus aureus, Staphylococcus epidermidis and pseudomonas aeruginosa in vitro, even if they are metichillin, oxacillin or penicillin resistant. In clinical practice, CXL may be used as an alternative treatment option in bacterial, mycotic and acanthamoeba keratitis, if they are therapy resistant.
Outcome of retinoblastoma patients treated according to the University Hospital of Siena guidelines
Authors: Coriolani G. , Galimberti D. , Guglielmucci D.F. , Caini M. , De Francesco S. , Esposti G. , Bracco S. , Galluzzi P. , Toti P. , Pinto A.M. , Favre C. , Grosso S. , Hadjistilianou T. 
Published: September 2017

PurposeTo analyze the results of Retinoblastoma (Rb) treatment according to the University Hospital of Siena guidelines in terms of complete ophthalmoscopic remission (COR) of disease.MethodsA total of 109 eyes of 87 patients were enrolled from September 2013 to November 2016. The mean patient age at diagnosis was 22.8 months (± sd 20.5 months). Sixtysix/109 eyes (60.55% of cases) were unilateral, 42 (38.53%) bilateral. Thirtyfive/109 (32.11%) were classified as low stage (A‐C of ICRB classification), 36 (33.03%) as D stage and 31 (28.44%) as E stage. Interventions: Conservative treatment with intravenous (IV) chemotherapy (CHT) and/or intrarterial (IA) CHT, both as first or second line therapies; primary or secondary enucleation.ResultsFourtysix/109 eyes (42.20%) received primary IV CHT, 40 (36.70%) primary IA CHT and 22 (20.1%) were enucleated at diagnosis. Twentyfive eyes (22.9%) were treated with secondary IA CHT (for failure of IV CHT, the majority being bilateral cases), 4 (3.6%) with second line IV CHT (mainly thermo‐CHT after IA CHT). Twentythree/109 eyes (21.1%) were secondary enucleated. Globe salvage with COR of disease has been obtained by 53/109 eyes (49% of all cases, 60.9% of the treated ones), in particular: by the 32.5% of the eyes treated with primary IV CHT, by the 52.5% of those treated with primary IA CHT and by the 60% of the eyes treated with secondary IA CHT. Mean follow‐up is of 21.9 months (± sd 16.9 months).ConclusionsThese results confirm the efficacy of our guidelines for Rb treatment. Particularly we obtained a better ocular salvage rate (p > χ2 = 0.0007, Mantel Cox Comparisons) for the cases treated with secondary IA CHT than with primary IA CHT. This observation demonstrates the efficacy of IA CHT even in recurrences of Rb after primary IV CHT, if early detected with a close follow‐up.
A case of misdiagnosed diffuse infiltrating retinoblastoma
Authors: Esposti G. , Borri M. , De Francesco S. , Coriolani G. , Hadjistilianou T. 
Published: September 2017

PurposeThe aim of this case report is to describe a case of a 19 months old female with diffuse infiltrating retinoblastoma in her right eye misdiagnosed as corneal dystrophy in another center. Diffuse infiltrating retinoblastoma can lead to anterior segment seeding with pseudohypopion, pseudoialitis and parsplanitis, intraocular hemorrhage confusing it with uveitis, unexplained vitreous hemorrhage, hyphema or endophalmitis.MethodsIn October 2016 the girl was observed at our Ocular Oncology Unit at the University of Siena. At ophthalmoscopic examination in her right eye she presented hyperemia, corneal edema, endothelium alterations, flocculi in the angle, iris neovascularization, and hematic clots (3–10 h). At fundus examination there were not retinal masses, but cloudy vitreous and vitreous deposits inferiorly. The left eye was normal. B scan echography documented thickened retina and vitreous deposits. RMI excluded extraocular disease.ResultsThe eye was enucleated and the diagnosis of diffuse infiltrating retinoblastoma was confirmed.ConclusionsDiffuse infiltrating is the least common growth pattern of retinoblastoma and often the most difficult to recognize clinically. It grows diffusely within the retina .Any child with signs of uveitis, hyphema, hypopion, vitreous hemorrhage and ialitis should be evaluated for retinoblastoma.