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Beck Bodo B BB Institute of Human Genetics, University Hospital of Cologne, 50931, Cologne, - - 2014
We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA),Joubert syndrome (JBTS), and polycystic kidney disease.Targeted NGS for excluding mutations in known LCA and JBTS genes, homozygosity mapping and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B,a gene essential for ciliogenesis, basal body and centrosome integrity. ...
Lee Juyoun J Chungnam National University Hospital, Daejeon, - - 2014
Neuromyelitis optica spectrum disorders (NMOSD) can cause various ocular motor disorders in addition to optic neuritis. Ocular motor findings associated with NMOSD include spontaneous vertical and gaze-evoked nystagmus, wall-eyed bilateral internuclear ophthalmoplegia, and trochlear nerve palsy. The association between dorsal midbrain syndrome and anti-aquaporin-4 antibody seropositivity has not been reported. ...
Praidou A A 1] Department of Paediatric Ophthalmology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK [2] Moorfields Eye Hospital NHS Foundation Trust, London, - - 2014
PurposeTo demonstrate the use of the multifocal electroretinogram (mfERG) in addition to the full-field electroretinogram (ERG) in defining varying clinical pictures in children within a family with Bardet-Biedl syndrome (BBS).MethodsAll members from a family generation underwent a detailed history and examination before proceeding to a detailed ERG in accordance with ...
Zuniga M Geraldine MG Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, Tenn., - - 2014
Objective: To compare the sensitivity and specificity of ocular vestibular evoked myogenic potentials (oVEMPs) using 2 electrode montages for the diagnosis of superior canal dehiscence syndrome (SCDS). Subjects: 16 SCDS patients (17 affected-SCDS ears, 15 contralateral-SCDS ears) and 12 controls (24 ears). Methods: oVEMPs were recorded in response to 500-Hz ...
Klufas Michael A - - 2014
A 23-year-old woman with history of headaches and auditory changes presented with acute-onset visual field loss in the right eye. The combination of multiple retinal branch artery occlusions of the right eye on funduscopic examination, characteristic white matter lesions in the corpus callosum on magnetic resonance imaging, and hearing loss ...
Chang Minwook M Department of Ophthalmology, Dongguk University Ilsan Hospital, Goyang, - - 2014
The aim of this study was to demonstrate the characteristics of sticky eyelid syndrome (SES) and to suggest a modified definition and new classification of the disease in relation to the severity of the syndrome in East Asian patients. Forty-four eyes of 31 patients with sticky eyelid syndrome were included ...
De Lia Julian E JE Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, - - 2014
Thirty years ago, twin-to-twin transfusion syndrome (TTTS) was one of the most challenging problems of modern obstetrics. The associated mortality and morbidity was staggering, and a sense of hopelessness prevailed among clinicians and pediatric pathologists. Technical advances in ultrasound, endoscopy, video recording, and medical lasers formed the basis for diagnosis ...
Turan Kadriye Erkan KE Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, - - 2014
An 8-year-old girl with normal visual acuity was found to have bilateral macular lesions on retinal examination. Ocular coherence tomography showed discrete perifoveal inner retinal deposits that characterize the "white dot fovea." This report documents the clinical presentation of white dot fovea in early childhood, suggesting that this condition may ...
Collet Agnès A Laboratoire de génétique, Inserm U-954, Université de Lorraine, Centre Hospitalier de Nancy, Vandoeuvre les Nancy, - - 2014
49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age ...
Sá Eduardo E Faculdade de Medicina Da Universidade de São Paulo, São Paulo, - - 2014
The aims of this study were to investigate work conditions, to estimate the prevalence and to describe risk factors associated with Computer Vision Syndrome among computer works in São Paulo. The methods include a quantitative cross-sectional observational study and an ergonomic work analysis, using work observation, interviews and questionnaires. The ...
Olawoye Olusola O OO Department of Ophthalmology, University College Hospital, Ibadan, Nigeria, - - 2014
The goal of this review is to estimate the burden of exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in sub-Saharan Africa and to identify the gaps in knowledge of disease prevalence in this region. PubMed, Medline, African Journals Online and Google engine search were carried out using the following terms ...
Sarman Zuleyha Sik ZS Department of Ophthalmology, Kocaeli University Faculty of Medicine, Kocaeli, - - 2014
The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic ...
Ozeç Ayşe Vural AV Department of Ophthalmology, Cumhuriyet University School of Medicine, Sivas, 58140, Turkey, - - 2014
To investigate levels of ghrelin in the aqueous humour (AqH) of patients with exfoliation syndrome and exfoliation glaucoma and compare them to levels of ghrelin in control subjects. This cross-sectional study involved 15 patients with exfoliation syndrome, 8 with exfoliation glaucoma and 12 control subjects for whom cataract surgery was ...
Dubey Sushil Kumar SK Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Madurai, - - 2014
IMPORTANCE This study was necessary to establish the association between common genetic variants in the lysyl oxidase-like 1 (LOXL1) gene with pseudoexfoliation (PEX) syndrome and emphasize the reversal of promoter risk allele in a South Indian population. OBJECTIVE To investigate the potential association of genetic variants across the LOXL1 gene ...
Liddle Vl V Animal Eye Services, Underwood, Queensland, - - 2014
Anterior chamber collapse syndrome has been recognised in various species and is associated with early-life ocular disease or trauma. It is important to differentiate this acquired condition from a congenital malformation. An adult female koala (Phascolarctos cinereus) was referred for assessment of buphthalmos and severe keratitis of the right eye. ...
Filloux Francis M - - 2014
To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by agenesis of the corpus callosum, cataracts, cardiomyopathy, immune defects, and hypopigmentation. A child with Vici syndrome (OMIM 242840) is reported with emphasis on the ophthalmologic evaluation. Ophthalmologic assessments including fundus ...
Longmuir Susannah Q SQ Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa. Electronic address: - - 2014
Loeys-Dietz syndrome (LDS) is a connective tissue disorder associated with aggressive arterial aneurysms; rarely, it can have clinical features similar to those of Marfan syndrome, with retinal detachment, myopia, and ectopia lentis. A 19-month-old boy with history of LDS was found to have peripheral retinal nonperfusion in both eyes and ...
Jewsbury Hugh H Cardiff Eye Unit, University Hospital of Wales, Cardiff. Electronic address: - - 2014
Wagner syndrome is a rare inherited vitreoretinopathy. We describe 3 related patients with Wagner syndrome who presented with congenital glaucoma at age 3 months and required multiple surgical interventions to control their intraocular pressure. All experienced visual loss and glaucomatous optic neuropathy.
Holló Gábor G Department of Ophthalmology, Semmelweis University, Budapest - - - 2014
PurposeTo describe the characteristic optical coherence tomography (OCT) findings of the iris in Cogan-Reese syndrome.MethodsA 63-year-old woman was referred for consultation due to diffuse pigmentation of the iris and elevated intraocular pressure (IOP) in the left eye. The clinical examination revealed Cogan-Reese syndrome with pedunculated iris outcroppings on the entire ...
Garro Sarah J SJ Duke University School of Nursing, Durham, North - - 2014
Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral vascular abnormalities, and potential eye involvement. The incidence of SWS is approximately 1 in 20,000 to 50,000 ...
Sorrentino Dante D Florida International University Herbert Wertheim College of Medicine, Miami, FL. Electronic address: - - 2014
To present the natural history of bilateral Brown syndrome in patients without surgical intervention. The medical records of cases of bilateral Brown syndrome not treated surgically with long-term follow-up from 1987 to 2012 were retrospectively reviewed. A total of 9 cases were included. The majority of patients in this series ...
Babadagi-Hardt Zeynep Z die pflegezentrale GmbH, 47138 Duisburg, Bahnhofstr. 20-22, - - 2014
Although the underlying primary cause of chronic wounds may vary, a common etiology of this is a hypoxic or ischemic status of the affected tissue of the lower extremities. In particular, for rare diseases associated with disturbed blood flow a correlation between cause and effect is often diagnosed inappropriately. As ...
Cacciamani Andrea A Institute of Ophthalmology, Fondazione G.B. Bietti-IRCCS, Via Livenza 3/5, 00198, Rome, Italy, - - 2014
The aim of this study was to evaluate the choroidal thickness (CT) changes associated with visual function following photodynamic therapy (PDT) for a diffuse choroidal hemangioma in Sturge-Weber syndrome. We report a case of Sturge-Weber syndrome and symptomatic serous retinal detachment (SRD) with diffuse choroidal hemangioma treated with PDT. Visual ...
Oshitari Toshiyuki - - 2014
To present our findings in a case of Werner syndrome with refractory cystoid macular edema (CME) and to determine the expression and the distribution of WRN proteins in human retinas. A 35-year-old man with Werner syndrome who developed CME after YAG laser treatment was studied. Optical coherence tomographic (OCT) scans ...
Usuba Fany Solange FS Faculdade de Medicina, Universidade de São Paulo, Hospital das Clínicas, Department of Ophthalmology, São PauloSP, Brazil, Faculdade de Medicina da Universidade de São Paulo, Hospital das Clínicas, Department of Ophthalmology, São Paulo/SP, - - 2014
To determine the prevalence of sicca symptoms, dry eye, and secondary Sjögren's syndrome and to evaluate the severity of dry eye in patients with mixed connective tissue disease. In total, 44 consecutive patients with mixed connective tissue disease (Kasukawa's criteria) and 41 healthy controls underwent Schirmer's test, a tear film ...
Baartman Brandon B Department of Ophthalmology, Wake Forest University Eye Center, Winston-Salem, N.C., - - 2014
Sweet's syndrome is a primarily dermatologic disorder with many features of systemic inflammation. It is generally characterized by a neutrophilic dermatosis in the setting of fever and an elevated white blood cell count. Inflammation has been described to occur in many organ systems including the lung, bone, liver, spleen, brain ...
Kim Sung-Hoon SH Department of Anesthesiology and Pain Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, - - 2014
A 56-year-old man with a rotator cuff injury, scheduled for arthroscopic reconstruction surgery, had a history of recurrent symptoms of eyeball pain and blurred vision for several years. After close examination, he was diagnosed with Posner-Schlossman syndrome. Three weeks before the scheduled surgery, his intraocular pressure (IOP) increased (> 30 ...
Fraga Maria M Serviço de Medicina 2. Hospital de Santa Maria. Centro Hospitalar Lisboa Norte. Lisboa. Portugal.. - - 2014
The Tubulointerstitial Nephritis and Uveitis syndrome is a very rare condition, probably under-diagnosed in clinical practice. It is characterized by the combination of an interstitial nephritis and uveitis, and is an exclusion diagnosis. Tissue non caseating granuloma can be rarely present, with only 6 cases reported on bone marrow. We ...
Shah Bhavin M - - 2014
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, ...
Pflugfelder Stephen C SC Department of Ophthalmology, Ocular Surface Center, Cullen Eye Institute, Baylor College of Medicine, Houston, TX 77030, - - 2014
Concepts regarding what causes dryness in Sjogren syndrome have evolved over the past decade. Inflammation in the lacrimal functional unit contributes to development of dry eye by causing dysfunction and even death of tear secreting epithelium in the lacrimal gland and conjunctiva that alters tear composition and stability. Disease-relevant inflammatory ...
Rucker Janet C JC 1 Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, - - 2014
Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This ...
Molho-Pessach Vered V Department of Dermatology - - 2014
Abstract Background: H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexion contractures. Almost 100 individuals affected with ...
Raboudi T T Service d'Orthopédie de l'Enfant et l'Adolescent, hôpital d'Enfants Béchir-Hamza de Tunis, Bab Saadoun, Tunis 1007, Tunisia. Electronic address: - - 2014
Proteus syndrome is a rare congenital hamartomatous disease frequently responsible for musculoskeletal deformities. The results and complications of surgical treatment are not well documented owing to the scarcity of reported cases. The authors report a case of poor evolution of valgus proximal tibial osteotomy in a 6-year-old girl with Proteus ...
Leblanc Shannon K SK Women's and Children's Hospital, Adelaide, South Australia, - - 2014
Colobomata are etiologically heterogeneous and may occur as an isolated defect or as a feature of a variety of single-gene disorders, chromosomal syndromes, or malformation syndromes. Although not classically associated with Marfan syndrome, colobomata have been described in several reports of Marfan syndrome, typically involving the lens and rarely involving ...
Morton Christopher M - - 2014
Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. Often presenting in pediatric patients, the pathogenesis of ulerythema ophryogenes remains unclear, though several genetic causes have been suggested. Treatment recommendations remain anecdotal, but clearance has ...
Erginturk Acar D D Ministry of Health, Zekai Tahir Burak Women's Health Research and Education Hospital , Ankara , Turkey - - 2014
Abstract Aim: To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia. Methods: A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left ...
Amin N N Department of Otorhinolaryngology/Head and Neck Surgery, Brighton and Sussex University Hospitals NHS Trust, Royal Sussex County Hospital, Brighton, - - 2014
Introduction: First bite syndrome is a condition characterised by severe facial pain brought on by the first bite of each meal. This can severely affect the patient's ability to eat. Methods: We present a 70-year-old woman for whom we performed a laser ablation of the left ear tympanic plexus, as ...
Van Asbeck Ellyze E Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, - - 2014
Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of features in association with sagging, inelastic, ...
Zhang Linda L From the Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, - - 2014
We propose 2 mechanisms of uveitis-glaucoma-hyphema (UGH) syndrome in 2 patients with intracapsular or in-the-bag single-piece acrylic intraocular lenses (IOLs). In the first case, pseudophacodonesis secondary to zonular laxity from pseudoexfoliation syndrome caused chafing of the posterior iris by the square-edged haptic. In the second case, focal capsular fibrosis around ...
Eleni K K Department of Dermatology, Thriassio General Hospital, Athens, - - 2014
The tremendous increase in the use of drugs has considerably increased their side effects. The aim of this work is to demonstrate Dress syndrome induced by levetiracetam an anti-epileptic drug. We describe a skin eruption observed in an-hospitalized in an intensive care unit patient who received levetiracetam. According to morphology ...
Spierer Oriel O Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Palm Beach Gardens, Florida, USA. Electronic address: - - 2014
Urrets-Zavalia Syndrome (UZS) was described 50 years ago as the appearance of a fixed and dilated pupil following penetrating keratoplasty for keratoconus in patients receiving atropine. The mechanism of UZS has still not been fully determined, but an acute increase in intraocular pressure and ischemia of the iris most probably ...
Shields Charlotte Nelle - - 2014
A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the ...
Raina Usha K - - 2014
Parry-Romberg syndrome is a rare disorder characterized by progressive hemifacial atrophy. Ophthalmic findings are characterized by enophthalmos, strabismus, nerve palsies, anisometropia, glaucoma, and angle abnormalities. Vision loss has also been reported due to retinal changes such as venous dilatation, disc edema, retinal edema, and retinal folds. The authors describe a ...
Chang Yao-Lung YL Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan, Taiwan. - - 2014
Mirror syndrome is a rare complication of twin-twin transfusion syndrome (TTTS). Its clinical picture includes massive edema, oliguria, and hemodilution in the context of fetal hydrops. The occurrence of mirror syndrome after fetoscopic laser therapy for TTTS has been well documented, but resolution of mirror syndrome before delivery has not ...
Lorenzi Umberto U Ophthalmic Section, Department of Clinical Pathophysiology, University of Turin, Turin, - - 2014
Terson syndrome is defined as intraocular hemorrhage associated with intracranial bleeding. This syndrome can occur in the event of intracranial hemorrhage or elevated intracranial pressure. To our knowledge, it has never been associated with chronic myeloid leukemia. A 45-year-old woman suffering from chronic myeloid leukemia was referred to our clinic ...
Burd Martin M National Evolutionary Synthesis Center, , Durham, NC 27705, USA, School of Biological Sciences, Monash University, , Melbourne, Victoria 3800, Australia, Faculty of Information Technology, Monash University, , Melbourne, Victoria 3800, Australia, Department of Physiology, Monash University, , Melbourne, Victoria 3800, Australia, Department of Biology, Bucknell University, , Lewisburg, PA 17837, USA, School of Media and Communication, RMIT University, , Melbourne, Victoria, - - 2014
We used a colour-space model of avian vision to assess whether a distinctive bird pollination syndrome exists for floral colour among Australian angiosperms. We also used a novel phylogenetically based method to assess whether such a syndrome represents a significant degree of convergent evolution. About half of the 80 species ...
Basha Madhi - - 2014
A 7-year-old girl with IRVAN (idiopathic retinal vasculitis, aneurysms, and neuroretinitis) syndrome was monitored for 9 years. The patient had symmetric multiple aneurysmal dilations, retinal vasculitis, and severe hard exudation in the macula bilaterally. Long-term visual acuity in her untreated right eye was 20/25. In the left eye, treated with ...
Sandal G - - 2014
We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (< 10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short ...
Laroumagne S S Department of Thoracic Oncology, Pleural Diseases, and Interventional Pulmonology, AP-HM-Hôpital Nord, Chemin des Bourrely, 13326 Marseille Cedex 20, France ; Aix-Marseille University, 13005 Marseille, - - 2014
Among paraneoplastic neurologic disorders (PND), opsoclonus-myoclonus syndrome, so-called "dancing eye syndrome," is a rare disorder combining multivectorial eye movements, involuntary multifocal myoclonus, and cerebellar ataxia. Although several paraneoplastic antibodies against postsynaptic or cell-surface antigens have been reported, usually most patients are serum antibody negative. We report a 65-year-old patient with ...
Alrashidi Salah S Princess Margaret Cancer Centre, Department of Ophthalmology and Vision Science, University of Toronto, Toronto, - - 2014
A female patient suffered from gradual decline of vision for few months. She presented with bilateral multiple pigmented choroidal tumours, associated with overlying retinal changes. The clinical presentation suggested bilateral diffuse uveal melanocytic proliferation (BDUMP) syndrome, which is a paraneoplastic disease, although there was no evidence of any concurrent malignancy. ...
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