bluuebunny/crossref_metadata_2025 huggingface dataset:
Mutation detection of Pakistani families with autosomal recessive retinal dystrophies
Authors: Ravesh Z. , Wissinger B. , Ansar M.
Published: September 2017

Purpose

Hereditary retinal dystrophies (RD) are a group of heterogeneous disorders caused by mutations in over 200 genes. RDs can be subdivided into different groups based on the primary degeneration of rod or cone photoreceptor cells. This study was conducted to investigate the underlying RD genes and mutation in consanguineous families from Pakistan.

Methods

Families were recruited after informed consent. Peripheral blood was collected and genomic DNA was extracted according to standard procedures. Homozygosity mapping was performed using Affymetrix Gene Chip Human Mapping 250 K‐NspI arrays. The data were analyzed using Homozygosity Mapper software. Primers for amplifying all exons and intron boundaries of all genes were designed with Primer3plus software followed by PCR and Sanger sequencing. Minigene splicing assay and DNA walking were performed on respective samples.

Results

Homozygosity mapping identified a novel locus in family A, one novel gene (C8ORF37) in family B and a large novel genomic deletion of the (LCA5) gene in family C.

Conclusions

Our study indicates the heterogeneous nature of retinal dystrophies in Pakistan. Although earlier studies have explored a number of RD families, but underlying genes are still unknown for significant proportion of Pakistani families. Theoretically the traditional screening methods (homozygosity mapping based candidate gene sequencing) were successful, however SNP based genome wide scan were further implemented to improve the detection of underlying variations responsible for Retinal Dystrophies. Therefore the amalgamation of traditional and modern molecular techniques is required for accurate identification of mutations. It is anticipated that these findings will contribute to future genetic testing in Pakistani families to minimize the risk of recessive disorders.
ERM management
Authors: Tranos P.
Published: September 2017

Epiretinal membranes are disorders which involve the vitreoretinal interface inducing tangential tractional forces on the retina. Although they may be associated with underlying ocular conditions, the majority of epiretinal membranes are idiopathic. Deformation of the inner retinal surface is a common consequence resulting in symptoms which range from symptomatic to severe metamorrphopsia and visual reduction. Epiretinal membranes are commonly classified according to their density and contractile characteristics. Optical coherence tomography (OCT) is the gold standard diagnostic tool and certain OCT features have been associated with ERM natural course and its postoperative visual prognosis. Pars plana vitrectomy and removal of ERM is indicated for symptomatic vision debilitating membranes. Surgical controversies including the extent of ERM removal, the use of vital dyes and the necessity of inner limiting membrane peel are still under investigation.
New technologies in the investigation of macular interface disorders
Authors: Tsakpinis D. , Pappas G.
Published: September 2017

The aim of this presentation is to show the use of the new technologies in the investigation of Macular Interface Disorders Methods: I will present various cases with the most common vitreomacular interface pathologyResults: I will demonstrate tips in order to make the new technology more useful in the investigation of Macular interfaceDiscussion: in the era of new technology Macular interface become an easier to investigate subject in order to choose the best treatment for the patient.
Myopia ‐ biological mechanisms and unresolved questions
Authors: Schaeffel F.
Published: September 2017

Research in animal models has consistently demonstrated that the retina extracts magnitude and sign of defocus in the projected image. Focussing errors trigger changes in axial eye growth, initiated by the retina, to reduce these error signals. Growth control occurs at each position in the retina, but the fovea, although very important in sharp vision, covers only a small fraction of the visual field and has therefore little input. Instead, the fovea controls accommodation, shifting the image plane similarly in the center and periphery. At the end, only a complete description of the focus error signals all over the visual field and over time will finally explain the development of myopia. Myopia is tightly linked to education, with 0.5 D more myopia per year of studies. Since extensive education is mandatory in our societies, its development can only be delayed and slowed down. Three evidence‐based approaches are promising at present to slow myopia progression: (1) increasing exposure to outdoor lighting, preferentially before myopia starts later at school, (2) “fooling” the retina about the true plane of focus (i.e. by multifocal contact lenses) and (3) low dose (0.01% or less) atropine eye drops.
Corneal bacterial infections: A practical approach
Authors: Gicquel J.J.
Published: September 2017

Because of their potential to permanently impair vision or perforate the eye, bacterial corneal ulcers are an ophthalmologic emergency. “ ey usually follow an insult (sometimes minor) in the corneal epithelium that provides an entry for bacteria. “ e increased use of soft contact lenses in recent years has led to an important rise in the occurrence of bacterial ulcers (especially aggressive Gram‐ bacteria). In this course you will learn about the new concepts in bacterial ulcers diagnosis and treatment.
Show me the money – funding opportunities for fellowships
Authors: Barbosa Breda J.
Published: September 2017

In a time when a fellowship can make a difference in a young ophthalmologist's curriculum, it is vital to know where to look for funding and plan ahead to be eligible for the opportunities.

This talk will focus on potential sources for fellowship funding, providing links and information to attendees. It will cover both national and international funding sources, as well as an overview of specific funding for certain fields of Ophthalmology. Both research and clinical fellowships will be included in this overview.

In the end, attendees are supposed to know where and when to look for funding opportunities.
Recurrent corneal erosions dystrophy (ERED) in a Finnish family is caused by a COL17A1 splice‐altering mutation
Authors: Turunen J. , Tuisku I. , Reetta‐Stiina J. , Kivelä T.
Published: September 2017

Purpose

The epithelial recurrent erosion dystrophy (ERED) is a rare autosomal dominant corneal disease. Recently, mutations in collagen type XVII, alpha 1 (COL17A1) gene have been identified as the cause of ERED. Here we report a Finnish family with recurrent erosions with dominant inheritance pattern. We performed COL17A1 candidate gene sequencing.

Methods

Five affected and five unaffected family members underwent standard ophthalmological examination, corneal topography, anterior segment optical coherence tomography and in vivo confocal microscopy. Next‐generation exome sequencing of peripheral blood was made in two of the affected individuals to identify mutations in the large COL17A1 gene. Sanger sequencing was used to verify the presence of the identified variant in the other family members.

Results

Affected patients reported recurrent corneal erosions beginning at the age of 4‐6 years. The frequency of erosions decreased in adult age. Corneal scarring and anterior stromal opacities were observed. The visual acuity slowly deteriorated. Exome‐sequencing revealed a synonymous splice‐altering variant c.3156C>T in COL17A1 in two affected patients. Sanger sequencing confirmed the presence of the same variant in four affected family members and its absence from two unaffected ones. The variant was not present in the Sequencing Initiative Suomi (SISu) database consisting of 10,490 Finns.

Conclusions

The variant c.3156C>T in COL17A1 is reported recently in five English, American, New Zealand, and Tasmanian families with ERED. Our finding of the same synonymous variant in yet another population strengthens the evidence this variant is a frequent cause of ERED.
Activity in eye surface sensory neurons is disturbed by inflammation, and vice versa
Authors: Gallar J. , Acosta M.C.
Published: September 2017

Ocular pain results from noxious stimulation of peripheral axons of functionally heterogeneous (Mechanonociceptors, polymodal nociceptors, and cold thermoreceptors) trigeminal ganglion neurons whose sensitivity to different stimulating agents depends on the expression of specific classes of membrane channels, evoking also different pain sensations.

Inflammatory mediators increase the excitability (sensitization) of ocular polymodal nociceptors, enhancing pain sensations. In turn, excited polymodal nociceptors release locally neuropeptides, contributing to local inflammatory reaction (neurogenic inflammation). However, inflammatory mediators reduce the excitability of cold thermoreceptors.

Regenerating nerve terminals damaged by ocular surgery, trauma, infections or systemic metabolic diseases, develop spontaneous activity and abnormal responses to natural stimulation, inducing changes in the experienced sensations (dysesthesia, neuropathic pain), and disturbances in tearing, blinking and ocular surface trophism. Besides, ocular tissues provide molecular signals that increase nerve regeneration.

(Supported by ARREST‐BLINDNESS, GA No. 667400‐2, Horizon 2020‐EC, and in part by SAF2014‐54518‐C3‐1‐R, MINECO, Spain and FEDER‐EC)
The role of IL‐6 and IL‐6‐blockade in the pathogenesis and treatment of uveitic macular edema
Authors: Mesquida M.
Published: September 2017

Macular edema (ME) is a leading cause of visual loss in uveitis patients. The pathogenesis of uveitic ME includes disruption of tight junction proteins and subsequent breakdown of the blood‐retinal barrier (BRB) that leads to accumulation of fluid within the macular retina. IL‐6 is a pro‐inflammatory cytokine that has been implicated in uveitic ME. Such a notion is supported by clinical cohort studies showing that IL‐6R blockade is beneficial in the treatment of uveitic ME. After studying the clinical efficacy of IL‐6 inhibition in uveitis patients, our group aimed to interrogate the effect of IL‐6 and its blockade with tocilizumab (TCZ) on the barrier properties of an in vitro model of the inner and outer BRB. Our preliminary in vitro data support the hypothesis that IL‐6 disrupts the BRB and contributes to the pathogenesis of ME. Indeed, IL‐6‐induced disrupted ZO‐1 expression was accompanied by an increase in paracellular permeability, and decreased transepitelial electrical resistance (TEER) of ARPE‐19 and human retinal microvascular endotelial cell (HRMEC) monolayers, whereas TCZ‐treated cells could restore IL‐6‐induced barrier disruption.
Clinical trials for inherited optic neuropathies
Authors: Karanjia R. , Poincenot L. , Sadun A.A.
Published: September 2017

The best scientific evidence for use of a clinical intervention is based upon data obtained from Phase III clinical trials. The robustness of a clinical trial is dependent on the quality of the metrics collected which in turn is dependent on the design of the study. Clinical trials involving inherited optic neuropathies such as Leber's Hereditary Optic Neuropathy (LHON) encounter some unique challenges which can be divided into two broad groups: patient‐centric factors and test‐centric factors. Patient‐centric factors include the heterogeneous phenotypic presentations in LHON with variable rates of spontaneous recovery and time to nadir and plateau. Test‐centric factors include the subjective nature of most visual metrics; intertest and intratest variability, which is compounded by patient adaptation to visual loss. Collectively these issues must be addressed when designing a clinical trial, especially in rare diseases where patient recruitment can be a challenge
Endophthalmitis: what role does vitrectomy play?
Authors: Rocha De Sousa A. , Mendonça C. , Alves‐Faria P. , Gouveia P. , Falcão M. , Falcão‐Reis F.
Published: September 2017

Purpose

To evaluate predictors of visual outcome in a series of patients treated for postoperative endophthalmitis (PE) and analyze the role of therapeutic vitrectomy (TV).

Methods

All patients who were clinically diagnosed with endophthalmitis and underwent eye procedure less than six weeks before presentation were included. Visual acuity (VA) was assessed and intravitreal antibiotics administered at the time of diagnosis for all patients. Some of them underwent TV. Main outcomes were best VA after treatment and variation of VA.

Results

Sixty‐one patients were included. Group of patients who underwent TV have a statistically significant greater proportion of patients with comorbidities (42.4% vs 17.9%) and median of VA after treatment was worse (2.1 LogMAR vs 0.5 LogMAR). Good VA, defined as ≤ 0.3 LogMAR, were reached only by 13 of 49 patients (26.5%). Presenting VA and performance of TV presented statistically significant differences in this analysis. On simple linear regression, we found that age, worse VA at diagnosis and the performance of TV were significantly associated to worse VA after treatment, and that longer time to the onset of symptoms and until TV are significantly associated with sorter variation of VA. Performing TV in the first 24 h after diagnosis presents a greater variation of VA than performing it after this time. After first 24 h, there seems to be increasingly worse outcomes with longer periods.

Conclusions

Our findings are consistent with previous ones. TV should be done considering the overall clinical course and each patient's characteristics, but if it was the option, shouldn't be delayed
Portuguese prescription patterns of topical antibiotics in Ophthalmology: a yearlong analysis
Authors: Sousa D.C. , Leal I. , Nascimento N. , Abegão Pinto L. , Marques‐Neves C.
Published: September 2017

Purpose

Scarce data is available regarding topical antibiotics prescribing patterns in Ophthalmology. We aimed to describe and analyze the nationwide prescription of these antimicrobials during the year of 2016.

Methods

Cross‐sectional study. A common electronic drug prescription system is used by all public or private hospitals and clinics in Portugal. We used this national database and included all the 2016 prescriptions of topical antibiotics used prophylactically or therapeutically in ophthalmology. Patients’ demographic data and medications prescribed were provided in an encrypted form and anonymously extracted. Results were stratified by region, physician specialty (ophthalmology vs. general practitioner) and public/private sector. Statistical analysis was performed using STATA v14.1.

Results

During 2016 in Portugal, a total of 458,638 topical antibiotic medications were prescribed to 324,683 different patients (47% male), corresponding to approximately 3.2% of the country population. Mean age was 46.4 ± 29.9 years. Of all prescriptions, 46.6% were from ophthalmologists, 31.9% from general practitioners and 11.3% from pediatricians. The most prescribed drugs were chloramphenicol (24.2%), ofloxacin (14.0%) and fusidic acid (9.0%). A similar rank was found in the public sector, but in private practice moxifloxacin was the third most prescribed. The prescription pattern was markedly different among the different country regions. Lastly, a seasonal effect is suggested, since more than 35% of the prescriptions were made from October to December.

Conclusions

This nationwide study revealed prescription's trends of topical antibiotic drugs in Portugal. These results might contribute for the development of a wiser use of antimicrobial drugs, thus promoting the best patient care and the whole system sustainability.
27 Gauge vitrectomy (pros & cons)
Authors: Stangos A.
Published: September 2017

The introduction of 23‐ and 25‐gauge systems was a game changer for vitreoretinal surgery. Recently, 27‐gauge systems have been commercialized. Only non‐complex cases would be suitable for surgery with the first generation 27‐gauge instrumentation. Recent enhacements however would allow the use of such systems even in very complex cases. In this special interest symposium we will discuss in depth the advantages and the limitations of 27‐gauge vitrectomy systems and ways to improve our outcomes.
Combined procedures
Authors: Pappas G.
Published: September 2017

Aim

the purpose of this presentation is to provide evidence for the necessity of combined vitrectomy and cataract removal in many cases

Methods

We reviewed the data of 850 phacovitrectomies performed under the same settings.

Results

We evaluated and present the acceptance from the patients, the final outcome and the complications following the procedure. We will also present tips on how to achieve the best results.

Conclusion: We will present the evidence to why we believe that phacovitrectomy is a easy, safe and necessary procedure
Conjunctival melanoma: association of cyclooxygenase‐2 tumour expression to prognosis
Authors: Pinto Proença R. , Santos M. , Fonseca C. , Fernandes J. , Gaspar M.F. , Proença R.
Published: September 2017

Purpose

Conjunctival melanoma is a rare but potentially lethal tumour. Its biologic profile is still largely unknown, with recent studies aiming at establishing histopathological and genetic tumour profiles. The aim of this study was to analyse the association between clinicopathological characteristics and tumour expression of cyclooxygenase‐2 (COX‐2) to prognosis, assessing its usefulness as a possible prognostic marker.

Methods

Case series of 50 patients from 1991 to 2008 with pathologically proven conjunctival melanoma. Demographic, clinical and pathological characteristics were evaluated by reviewing clinical files and pathology. Expression of COX‐2 was studied by immunohistochemistry of formalin‐fixed paraffin‐embedded tissue samples of 20 melanomas. Samples were classified in a score which included intensity of staining and percentage of cells with positive reactivity.

Results

Clinicopathological features significantly associated (p < .05) with a poor prognosis (death) included involvement of fornix and tarsal conjunctiva, tumour thickness exceeding 2 mm, local tumour recurrence, lymph node and systemic metastasis. In the immunohistochemistry study (n = 20) all cases expressed COX‐2 although with different scores. However, only cases with score 4 were associated with a poor outcome. Multivariate association analysis revealed that recurrence rate, metastasis, corneal invasion and tumour thickness were associated with score 4 cases and, therefore, with a clinical profile with a higher risk of death.

Conclusions

Results suggest that higher COX‐2 expression may be a negative prognostic factor in conjunctival melanoma. Further studies can address the potential use of anti‐COX‐2 drugs as adjuvant therapy of this disease.
Update in topical ciclosporine in VKC
Authors: Bremond‐Gignac D.
Published: September 2017

Severe allergic conjunctivitis in children may be severe causing loss of quality of life and visual impairment. Vernal keratoconjunctivitis and atopic keratoconjunctivitis are rare diseases but must be distinguished because of their evolution. Imaging of these diseases and systemic treatment are reviewed and developed. An overview of the innovating diagnosis, new imaging techniques and treatment is summarized for a better comprehension of severe allergic ocular surface diseases.
Posterior polymorphous corneal dystrophy; novel clinical and molecular genetic insights
Authors: Liskova P.
Published: September 2017

Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder inherited as an autosomal dominant trait. The general prevalence is unknown except for within the Czech Republic, where patients with PPCD have been systematically followed for decades. Currently there are over 125 living patients, leading to an estimated prevalence 1 affected individual per 80,000 inhabitants. Based on molecular genetic findings there are three subtypes recognized (PPCD1‐PPCD3). Recently OVOL2 promoter mutations have been discovered as causing PPCD1. As there is mutual inhibition relationship between OVOL2 and epithelial‐to‐mesenchymal (EMT) transition inducer ZEB1, encoded by an established gene implicated in the development of PPCD3, the disease mechanism seems to lie in imbalance of transcription factors involved in EMT. Clinically, individuals with PPCD3 typically show in comparison to PPCD1 patients abnormal corneal steepening and lower incidence of secondary glaucoma and necessity for corneal grafting. Supported by GACR 17‐12355S.
Viral and non‐viral vectors for cell and gene therapy of the corneal endothelium
Authors: Fuchsluger T. , Grünert A. , Mahajan S. , Czugala M.
Published: September 2017

This presentation highlights non‐viral and viral vector strategies to modify corneal endothelial cells. Functional data will be presented.
Tuberculosis
Authors: Khairallah M. , Khochtali S. , Mahmoud A. , Ben Amor H.
Published: September 2017

The diagnosis of intraocular tuberculosis (TB) is often presumptive, made on the basis of suggestive ocular features, evidence of latent or manifest TB, exclusion of other causes of uveitis, and positive response to antitubercular treatment (ATT). The most typical features include serpiginous‐like choroiditis and occlusive retinal vasculitis. When the posterior segment is involved, treatment relies on ATT, usually in association with systemic or periocular corticosteroids. Patients should be monitored for response of inflammation to treatment, recurrences, adherence to ATT and treatment side‐effects. Clinical assessment of ocular TB at presentation and during follow‐up includes grading of vitreous haze, characterization of choroidal involvement, retinal vascular involvement and optic disc changes, and evaluation of anterior chamber cells and flare. Laser flare photometry may be used to monitor anterior chamber inflammation. Ocular imaging tests including fundus autofluorescence, fluorescein angiography, indocyanine green angiography, SD and EDI optical coherence tomography (OCT), and OCT angiography may be very useful in analyzing and quantifying specific TB retinal and choroidal changes.
Acanthamoeba keratitis – pKP versus conservative treatment in a 20‐year follow‐up study
Authors: Fuchsluger T. , Scheumann A. , Roth A. , Klammann A. , Geerling G.
Published: September 2017

This presentation reports data from conservative versus surgical treatment of acanthamoeba cases collected at Dusseldorf University Eye Hospital over the last 20 years.
Prevention of selenite‐induced cataractogenesis by sildenafil in rats
Authors: Atalay H.T. , Üçgül A.Y. , Özel Türkçü Ü. , Özmen M.C. , Yılmaz N.S. , Bilgihan A.
Published: September 2017

Purpose

To evaluate the effect of sildenafil on selenite‐induced cataract formation in a rat model.

Methods

Twenty‐six Wistar rat pups were divided into four groups. Seven pups received only selenite on postpartum day 10 (group 1), 7 pups received selenite and additional high dose sildenafil on postpartum day 10 (group 2), 6 pups received selenite and additional low dose sildenafil on postpartum day 10 (group 3), and 6 pups received only saline (group 4, control). All pups were examined for the presence of cataract under the microscope, starting from the day their eyes opened. Nitrite oxide metabolites, advanced oxidation protein products and total sulfhydryl levels were evaluated in both serum and lenticular samples.

Results

In group 3, the extent of lens opacification was significantly less than that of selenite‐injected untreated rats (group 1) (p < 0.05). None of the rats in group 4 developed any lens opacity. In lenticular samples, nitrite oxide metabolites level was statistically lower in group 3 compared to group 1 (p < 0.05). In serum, advanced oxidation protein products and total sulfhydryl levels was statistically lower in group 3 compared to group 1 (p < 0.05).

Conclusions

Low dose sildenafil appears to inhibit selenite‐induced cataractogenesis in the rat model, and this seems to be caused by the prevention of oxidative damage.
Ocular inflammation as a motor for axonal regeneration in the optic nerve
Authors: Fischer D.
Published: September 2017

Retinal ganglion cells (RGCs) normally fail to regenerate injured axons and die upon axotomy. However, induction of intraocular inflammation (IS), which is associated with an activation of retinal astrocytes and microglia transforms RGCs into a regenerative state. It delays neuronal degeneration and enables axon growth into the injured nerve. CNTF, LIF and IL‐6 released from retinal astrocytes have been shown to be critical for this stimulation. However, the role of microglia has not yet been investigated in this context. Using a pharmacological approach based on CSF1R inhibition we show that almost all microglia are eliminated in murine retinae and optic nerves without affecting peripheral monocytes/macrophages or other cells of the visual system. We surprisingly found that the time course and extent of RGC degeneration after optic nerve crush remained unaffected despite the presence of apoptotic RGC remnants after microglia depletion. In addition, microglia depletion neither affected the induction of regeneration associated genes upon optic nerve injury nor the increased regenerative potential of RGCs upon IS. Thus, microglia are not essentially involved in RGC degeneration or axonal regeneration after acute optic nerve injury.
Absence of nuclear Programmed cell death 4 as an indicator of poor prognosis in uveal melanoma patients
Authors: Ahmed I. , Kalirai H. , Angi M. , Coupland S.
Published: September 2017

Purpose

Uveal melanoma (UM) is the most frequently occurring intraocular malignancy in adults. Arising from the uncontrolled proliferation of melanocytes in the choroid, ciliary body and iris, UMs have a strong propensity to metastasise to the liver, where they are fatal. In a previous study, proteomic examination of UMs at either a high or low risk of developing metastasis identified the down regulation of Programmed Cell Death 4 (PDCD4) levels with increasing metastatic risk.

Methods

This study examined PDCD4 protein expression and subcellular localisation in UM patient samples by immunohistochemistry (IHC). 165 primary (PUM) and 18 metastatic UM (MUM) samples with full clinical, histological and genetic data were included in the study. Slides were assessed and scored according to (A) percentage of tumour cells with cytoplasmic PDCD4 expression; (B) intensity of cytoplasmic staining and (C) percentage of PDCD4 positive tumour nuclei.

Results

In PUM and MUM samples, PDCD4 was localised primarily to the cytoplasm. An equal percentage of primary and metastatic samples expressed nuclear PDCD4 (28%). Loss of nuclear PDCD4 was strongly associated with factors associated with a poor prognosis, in particular, monosomy 3 (p = 0.014) and loss of nuclear BAP1 (p = 0.012). PUMs with nuclear PDCD4 in ≥10% of tumour cells had an improved survival time compared with PUMs with <10% nuclear expression of PDCD4 (p = 0.105).

Conclusions

The tumour suppressor PDCD4 shuttles between the nucleus and cytoplasm to exert its effects in normal cells. In PUM samples, an absence of nuclear PDCD4 localisation was associated with a poor outcome. Further functional studies are necessary to determine how PDCD4 localisation influences UM cell behaviour.
Primary mitochondrial optic neuropathies
Authors: Barboni P.
Published: September 2017

Primary mitochondrial optic neuropathies are a genetically heterogeneous group of conditions, with autosomal dominat, recessive, X‐Linked and mitochondrial inheritance. These optic neuropathies are usually caracterized by bilateral, symmetrical, painless reduced visual acuity, color vision defects, central or centro‐caecal scotoma and optic disc pallor. The dominant (dominant optic atrophy, DOA) and the mitochondrial forms (Leber's hereditary optic neuropathy, LHON) are the commonest. The most frequent gene mutation responsable for DOA is the OPA1. OPA 1 is also associated with the allelic condition syndromic dominant optic atrophy, DOA+ syndrome.
Chronic progressive external ophthalmoplegia
Authors: Yu‐Wai‐Man P.
Published: September 2017

Chronic progressive external ophthalmoplegia (CPEO) is a slowly progressive extraocular muscle disorder characterized by bilateral, usually symmetrical, limitation of eye movements and ptosis. This classical manifestation of mitochondrial disease can develop either in isolation or more frequently, in association with other multisystemic features (CPEO plus). An expanding list of nuclear‐encoded mitochondrial genes is now known to cause CPEO phenotypes, predominantly in the context of multiple mitochondrial DNA (mtDNA) deletions, but also as part of mtDNA depletion syndromes. This genetic heterogeneity can result in diagnostic delays, which is further compounded by the clinical challenges inherent in distinguishing CPEO from other disorders that also present with external ophthalmoplegia and ptosis. Corrective ptosis surgery can be a highly effective treatment and alleviating symptoms of diplopia can make a significant difference to the patient's quality of life.
Eye of Horus
Authors: Grzybowski A.
Published: September 2017

Horus was the Egyptian god of light, the son of Osiris and Isis. He was regarded as the rising sun, born afresh daily and the symbol of renewed life. In cultures that practiced magic eyes were the symbol of great importance. The ability to see enables to experience and explore the surrounding world and interact with it. In ancient cultures stars especially the sun and the moon were called the eyes of heaven. The sun was the face or eye of Indian solar deity Surja, the eye of German deity Odin or Iranian deity Ahuramazda. The right eye of Egyptian God Horus represents the sun, left eye the moon. In The “Book of the Dead” (around 1500 B.C.) which is a collection of spells which enable the soul of the deceased to navigate the afterlife, it is written: the eye of god Horus gives eternal life and protects me when it is closed”. The eye of god Horus became the symbol of the power of healing and revival. It was believed that a talisman representing the eye of Horus has the power to protect from charm and therefore was used by witch doctors for healing session and during funeral ceremonies.
Ocriplasmin in the treatment of vitreomacular traction – against
Authors: Zambarakji H.
Published: September 2017

Ocriplasmin is an enzyme that dissolves vitreal proteins as well as possibly proteins associated with visual function in the retina, choroid, and lens. The MIVI trials concluded that intravitreal Ocriplasmin was superior to an injection of placebo in altering the vitreoretinal interface of affected eyes, although it was accompanied by some, mainly transient, ocular adverse events. There are anecdotal reports of adverse events as well as early reports in the literature of previously unreported side effects, such as enlargement of the macular hole, zonular instability, and localised non‐rhegmatogenous retinal detachment. A recent BEAVRS survey in the UK reported lower macular hole closure rates and higher than expected adverse events. Furthermore, there have been conflicting views on the safety of Ocriplasmin with changes in the ellipsoid zone seen on OCT and changes seen on ERG indicating photoreceptor damage. The practical question asked by the retina specialist is the following: observe, inject or operate? Increased numbers of real world experience with Ocriplasmin and post marketing surveillance studies are needed.
Anti‐VEGF intravitreal injections in the management of radiation maculopathy ‐ for
Authors: Sagoo M.
Published: September 2017

Radiation maculopathy is a sight threatening complication of radiation treatments for tumours of the eye and surrounding tissues. Many treatments have been tried for radiation maculopathy to variable success and the choice of agent depends on a judgement of risk to benefit. The use of lasers and steroids has become less prominent in recent years. Current first line has become anti‐VEGF injections, after the success in other macular disorders that are prone to neovascular or exudative vasculopathy. Large prospective and retrospective series and case controlled studies show efficacy in maintaining or improving visual acuity and reducing the extent of macular edema. In addition, the preventive use of anti‐VEGF injections will also be discussed.
Effects of docosahexaenoic acid on the viability of human tenon's fibroblasts
Authors: De Lazzer A. , Acar N. , Bretillon L. , Bron A.M. , Creuzot Garcher C.
Published: September 2017

Purpose

Excessive scarring of the conjunctiva is the major cause of failure of the surgical treatment for glaucoma. The activation of human Tenon's fibroblast (HTFs) is supposed to be responsible for wound healing and scar formation. Antimetabolites are used to inhibit subconjunctival fibrosis but these molecules may lead to serious complication. Previous studies have shown that omega‐3 polyunsaturated fatty acids (PUFAs) such as docosahexaenoic acid (DHA) have anti‐inflammatory, anti‐proliferative and anti‐angiogenic properties. The aims of this study were to evaluate DHA as a potential inhibitor of human Tenon's fibroblasts.

Methods

Primary HTF cells were obtained from patients during glaucoma surgery and were cultured in DMEM medium. After stimulation with TGF‐β2, HTFs were treated with MMC (0.01 mg/mL) and different concentrations of DHA (50, 100 and 200 μM) for 48 hours. Lipid profile of HTFs was determined by gas chromatography, cell proliferation by Ki67 assay, cell migration was evaluated by videomicroscopy and cell toxicity by MTT assay. The expression α‐SMactin and MAPK p38, ERK, JNK in their non‐phosphorylated and phosphorylated forms was determined by western blotting.

Results

MMC reduced proliferation, migration compared to control but showed important toxicity suggested by the increased respiratory rate of mitochondrie in cytotoxicity assay and confirmed by a G2 arrest in cell cycle. DHA had no significant impact on cellular viability. DHA at 200 μM showed an efficacity similar to MMC. A reduction of the ability of cells to migrate was observed with DHA in a dose‐dependent manner. DHA efficiently dicreased α‐SMactin expression of myofibroblasts. Proteins from the Smad signaling pathway could not be observed.

Conclusions

These findings indicate that DHA inhibits migration and differentiation of HTFs to myofibroblats.
Effects of Caveolin‐1 ablation in the inner retina under healthy and experimental glaucoma conditions
Authors: Abbasi M. , Gupta V. , Dheer Y. , Joseph C. , Vanderwall R. , Graham S.L.
Published: September 2017

Purpose

Variations in Caveolin1/2 (Cav1/2) gene loci has been identified a risk factor in glaucoma. Cav‐1 is the prominent signature protein of caveola and is implicated in various signal transduction pathways. Cav‐1 ablation has previously been shown to impair the retinal function and our study established that it is involved in regulation of BDNF/TrkB signalling in the retinal ganglion cells. This study aimed to investigate the role of Cav‐1 specifically in the inner retina in both healthy and experimental glaucoma conditions.

Methods

Cav‐1−/− and the age matched wildtype mice were used in the study (n = 32). Experimental glaucoma model was generated by weekly intracameral microbead injections to induce high intraocular pressure (IOP) for 2 months. Retinal functional changes were assessed by electroretinogram (ERG) and positive scotopic threshold response (pSTR) recordings. H&E staining carried out on retinal sections to evaluate histological differences in retinal laminar structure.

Results

Cav‐1−/− mice showed significantly lower pSTR amplitudes when compared with WT mice (n = 18, p < 0.05). ERG amplitudes in Cav‐1−/− were smaller than WT mice as reported previously. Following 2 months of elevated IOP (Control, 10.81 ± 0.4; High IOP 25.71 ± 3.2 mmHg), WT mice demonstrated a significant decrease in pSTR amplitudes (n = 8, p < 0.05) while the Cav‐1−/− mice showed a less fall in the pSTR. Histological assessment of glaucomatous retinas also revealed significantly greater decrease in the number of cells in ganglion cell layer in WT compared to Cav‐1−/− mice (n = 16, p < 0.05).

Conclusions

Cav‐1 plays a critical role in the maintenance of inner retinal integrity under normal conditions. Cav‐1 ablation was associated with functional and structural protection of the inner retina under chronically elevated IOP conditions.
Aqueous inflammatory proteasome in open angle glaucoma in Caucasian patients
Authors: Pantalon A. , Feraru C. , Constantinescu D.
Published: September 2017

Purpose

Primary open‐angle glaucoma is characterized by loss of retinal ganglion cells and their axons, resulting in optic nerve cupping and visual field loss. Until now, no specific cause was attributed to POAG development, but multiple pathogenic theories have been approached, beside IOP elevation and aging.The aim of this study was to assess the inflammatory and immune dysregulation theory in POAG.

Methods

We included in a cross‐sectional study 40 eyes, from 40 patients: 16 eyes with POAG and 24 eyes from healthy subjects. Aqueous was collected during conventional cataract surgery. 21 inflammatory markers were quantified and compared between groups using a Luminex® Performance Assay multiplex kit based on flowcytometric methods.

Results

Mean age in POAG group was 75.69 ± 5.54 years vs 72.33 ± 11.26 years in controls (p = 0.23). Mean IOP in healthy controls was 14.21 ± 2.68 mmHg compared to 18.19 ± 4.3 mmHg in glaucoma patients, controlled by 3 ± 0.87 topical substances. Mean MD level in POAG group was ‐13.59+/‐9.35 dB, whereas PSD mean level was 4.25 ± 4.22dB. Cytokines expression in glaucoma patients compared to healthy controls was found significantly different for CXCL5 (p = 0.008), CXCL8 (p = 0.048), IL‐1α (p = 0.005), IL‐2 (p = 0.015) and TNFα (p = 0.041). Therefore, a prediction statistical model for these cytokines was created. All markers point out a common inflammatory pathway that triggeres TNFα release. A mathematical model proved that CXCL5, CXCL8, IL‐1α and IL‐2 can accurately predict TNFα level in this study (r square = 0.842, p = 0.000).

Conclusions

Our results show that in POAG patients there is an increased production of inflammatory cytokines in aquoeous humor. Moreover our statistical predictions point out TNFα molecule and its signalling pathways as the determinant pathogenic pathway involved in the inflammatory compound of POAG caucasian patients.
Association of apolipoprotein E with a risk of primary open‐angle glaucoma
Authors: Szaflik J.P. , Nowak A. , Rozpędek W. , Siwak M. , Szymanek K. , Szaflik M. , Szaflik J. , Majsterek I.
Published: September 2017

Purpose

Glaucoma is classified as a neurodegenerative disorders. It is characterized by loss of retinal ganglion cell (RGC) and changes in the structure of the optic nerve. The exact mechanism of RGC death is multifactorial and unclear. Many reports have focused on the possible role of apolipoprotein E (APOE) in the development risk of glaucoma.

Methods

The study involved 30 patients with primary open‐angle glaucoma (POAG) and 30 age‐matched healthy subjects. Material for the study was the whole blood and the aqueous humor. The main goal of this study was to assess the expression level of APOE in whole blood and serum of patients with POAG compared with a control subjects without glaucoma. Moreover, we evaluated the expression level of APOE protein in the aqueous humor in POAG patients. The level of mRNA expression was determined by QRT‐PCR and the protein level was evaluated by ELISA. The statistical analysis was performed using the non‐parametric Mann‐Whitney U test.

Results

The results of APOE mRNA expression level in the blood have shown no statistical differences between POAG patients and control subjects (p > 0.05). However, the analysis of protein level in the serum has showed a higher expression of APOE of POAG patients compared with the control group (p ≤ 0.05; 5106.07 ng/ml vs 4294.70 ng/ml). Additionally, we have observed a tendency to increase in concentration of APOE in the aqueous humor in POAG patients (262.12 ng/ml) compared with controls (173.83 ng/ml).

Conclusions

Our research suggests that altered level of APOE may be related to the development of primary open angle glaucoma.
Surgical treatment of Persistent Fetal Vasculature (PFV)
Authors: Lytvynchuk L. , Lorenz B.
Published: September 2017

Purpose

Persistent fetal vasculature (PFV), or persistent hyperplastic primary vitreous (PHPV), is a congenital ocular disorder caused by incomplete regression of the embryonic hyaloid vasculature (associated with cataract and glaucoma). Our aim is to overview primary surgical approaches in treatment of PFV with anterior disease based on literature review and two consecutive cases.

Methods

Review of published cohort studies and case reports was performed with PubMed Search engine (keywords: PFV, PHPV, lensectomy, vitrectomy, anterior disease). Two consecutive cases of unilateral PFV with anterior disease treated with lensectomy and vitrectomy were analyzed regarding surgery timing and surgical steps.

Results

Literature review showed limited follow‐up (mean 22–76 months) in cohort studies, as well as variation of timing, surgical approaches, and correction of aphakia. During surgery protection of corneal endothelium, removal of capsular remnants and endodiathermy of the hyaloid artery are critical.

Conclusions

Timing of primary surgery in PFV and proper surgical intervention are crucial for the best visual outcome possible. Postoperative period has to include thorough monitoring of intraocular pressure and amblyopia treatment.
Glaucoma Drainage Device (tube) surgery ‐ what I learned from my first 20 cases
Authors: Anand N.
Published: September 2017

Many glaucoma sub‐specialists undergo intense fellowship training before embarking on independent practice but no experience specifically prepares you for the first months of your solo career. Additionally, tube surgery may not be ubiquitously used and competition from more traditional surgeries (e.g. trabeculectomy) and Micro‐incisional Glaucoma Surgery (MIGS) can result in limited exposure to GDI surgery during the course of fellowships and insecurities when performing the first few cases independently. This part of the SIS will provide expert tips and genuine advice from young glaucoma consultants from across Europe who will share videos and experiences from their first few cases as solo glaucoma specialists. This will include tips on preventing and handling complications, the sharing of lessons and pitfalls to be expected, specific advice on how to handle complications and pearls on how to safely teach residents and fellows.
Ab interno glaucoma surgery ‐ what I learned from my first 20 cases
Authors: Au L.
Published: September 2017

There are many abinternal glaucoma procedure nowadays, ranging from schlemm canal stenting to goniotomy; from suprachoroidal stenting to endoscopic cycloablation. Most of these procedure requires the use of intraoperative gonioscopy which is often a new skill for glaucoma specialist. this talk would focus of tips and tricks in acquiring accurate and reproducible intraoperative gonioscopy, methods to highlight schlemm canal and aids to help identify angle structures. It'd cover the techniques of istent, Hydrus stent, goniotomy with KDB knife, abinternal canaloplasty as well as Cypass suprachoroidal stenting. Careful case selection would be discussed to maximise surgical success and minimise risk and complications.
Falls re‐audit
Authors: Manzar H. , Sheriff I. , Yusuf A. , Igwe C. , McIntosh D. , O'Sullivan E. , Kailani O.
Published: September 2017

Purpose

The economic burden and health consequences of falls are underestimated. Forty per cent of over 65 year olds will fall at least once each year, with half of these having multiple episodes. Visual impairment is common in the elderly and is associated with a higher falls risk. NICE recommends visual testing as part of a ‘multifactorial falls risk assessment’. However, during a recent audit on three elderly care wards at a central London teaching hospital, only 11% of patients who presented with a fall had visual assessment during their admission.

Methods

A series of interventions were delivered in December 2016 to ‘Educate, Equip, and Emphasise’ clinicians. These included displaying posters on the wards, checking whether bedside equipment e.g. Snellen charts were available and facilitating replacement if missing, and a teaching presentation delivered to the elderly care team. A re‐audit was performed in February 2017 to ‘close the audit loop’.

Results

In this cross‐sectional re‐audit, 9/64 of patients on the three wards (14%) originally presented with a fall (mean age 85.9 years; 6 were female; 3 were aided (i.e. used spectacles). 9/9 (100%) were visually impaired (best corrected visual acuity ≤ 6/12), most to a significant degree, however 0/9 (0%) had an assessment of vision during their admission. None of these patients were known to ophthalmic services previously.

Conclusions

The interventions were shown to be unsuccessful in improving adherence to guidelines. This highlights the need for awareness of the association between visual impairment and falls, and suggests education in training programmes may be necessary. The small sample size is a limitation to extrapolating the results on a national scale. Visual assessment and prompt referral to the eye clinic when necessary may prevent patients having future falls and readmissions to hospital.
Optical coherence tomography angiography in retinitis pigmentosa
Authors: Hassairi A. , Falfoul Y. , Matri K. , Ben Lassoued O. , Chebil A. , El Matri L.
Published: September 2017

Purpose

The aim of this study is to describe macular vascular abnormalities in patients affected by retinitis pigmentosa using Optical coherence tomography angiography (OCT‐A).

Methods

Patients with a clinical diagnosis of retinitis pigmentosa underwent 3 × 3 Swept Source OCT‐A scans using a Swept‐Source DRI OCT Triton (Topcon Corporation, Japan). Scans with artifacts were excluded. Retinal vascular supply was estimated at the level of the superficial (SCP) and deep (DCP) capillary plexus, choriocapillaris and choroid.

Results

Six patients (12 eyes) were included in this study. Five were females (83.33%) and the mean age was 28.66 years. Mean best corrected visual acuity was 0.5 ± 0.3 LogMAR. Two patients presented bilateral macular edema on Swept Source‐OCT and showed focal dislocations in the vascular network at the level of the DCP on the OCT‐A, corresponding to the serous intraretinal cysts displacing the vascular plexus and the neural tissue. Qualitative analysis of OCT‐A at the macular area revealed a reduction of vessel density in the SCP and DCP. The DCP and especially the temporal area are more affected. Three patients (50%) showed an enlarged foveal avascular zone at the DCP level.

Conclusions

Using OCT‐A, we have demonstrated reduction of vessel densities especially located in the DCP. This vascular depletion could be an early event in the disease, which eventually causes ischemia, tissue loss and affects the macular function. Morphological vascular evaluation in patients affected by retinitis pigmentosa allows better understanding the pathogenesis of this disease and can have direct therapeutic implications for the future practical management of retinal dystrophies.