3,580 results match your criteria children ophthalmological

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations.

J Ophthalmol 2021 26;2021:8870680. Epub 2021 May 26.

Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

Purpose: To summarize and review the common ophthalmic anomalies in children with trisomy 21 (Down syndrome) in order to propose an update to current clinical recommendations.

Methods: A retrospective chart review, systemic literature review, and international survey of the frequency of ocular abnormalities, screening schedules, and challenging aspects examining children with trisomy 21. The chart review included patients treated at the Department of Ophthalmology at the University Hospital of Zurich over a two-year period. Read More

View Article and Full-Text PDF

Frequency and risk factors for hydroxychloroquine retinopathy among patients with systemic lupus erythematosus.

Egypt J Intern Med 2021 8;33(1):18. Epub 2021 Jun 8.

Department of Medicine Division of Rheumatology, Ain Shams University, Cairo, Egypt.

Background: Hydroxychloroquine (HCQ) is an antimalarial drug, recently used in COVID-19 treatment. Also it is considered over many years the cornerstone in treating systemic lupus erythematosus (SLE) in adults and children. The incidence of retinal affection and retinal toxicity from hydroxychloroquine is rare, but even after the HCQ is stopped, loss of vision may not be reversible and may continue to progress. Read More

View Article and Full-Text PDF

Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis.

Neurologia 2021 May 31. Epub 2021 May 31.

Unidad de Neurología Pediátrica. Unidad de Gestión Clínica de Pediatría y sus Especialidades. Hospital Universitario Reina Sofía, Córdoba, España; Grupo clínico vinculado al CIBERER, Área de Medicina Metabólica Hereditaria, Instituto de Salud Carlos III, Madrid, España; Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, España.

Introduction: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status.

Patients And Methods: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. Read More

View Article and Full-Text PDF

Ophthalmological manifestations in congenital Zika syndrome in 469 Brazilian children.

J AAPOS 2021 May 31. Epub 2021 May 31.

Department of Ophthalmology, Federal University of São Paulo, SP, Brazil.

Purpose: To analyze the spectrum of ophthalmologic manifestations in a large sample of children with congenital Zika syndrome (CZS) in Brazil.

Methods: The medical records of infants born in the states of Pernambuco, Bahia, and Rio de Janeiro, Brazil, between December 2015 and December 2016 with clinical manifestations of CZS and positive reverse transcription polymerase-chain-reaction (RT-PCR) and/or serology for the Zika virus were reviewed retrospectively. Data were collected from the record of the first ophthalmological assessment, performed on admission. Read More

View Article and Full-Text PDF

Surgical multidisciplinary approach of orbital complications of sinonasal inflammatory disorders.

Acta Otorhinolaryngol Ital 2021 Apr;41(Suppl. 1):S108-S115

Neuroradiology Department, Nuovo Ospedale Civile Sant'Agostino Estense, Modena, Italy.

View Article and Full-Text PDF

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.

J Pak Med Assoc 2021 Mar;71(3):816-821

Department of Molecular Biology and Genetics, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.

Objective: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families.

Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and Health Sciences, Jamshoro, the University of Sindh, Jamshoro, and Islamia University, Bahawalpur, Pakistan, and comprised families affected with non-syndromic autosomal recessive retinitis pigmentosa. Ophthalmological investigations were done to assess the fundus of the patients and the status of the disease. Read More

View Article and Full-Text PDF

Neuroophthalmic Manifestations of Intracranial Tumours in Children.

Case Rep Ophthalmol Med 2021 15;2021:7793382. Epub 2021 May 15.

Department of Neurosurgery, Dr. D.Y. Patil Medical College and Hospital, Pimpri, Pune, Maharashtra, India.

Background: All children between 0 and 16 years presenting with brain tumours confirmed by Magnetic Resonance Imaging (MRI) and treated surgically in our institute were included in this study.

Objective: The aim of this study is to evaluate the neuroophthalmic and clinical characteristics of intracranial space occupying lesions in children.

Methods: Neuroophthalmic manifestations along with location of the tumour by contrast-enhanced MRI, type of surgical intervention, and postoperative histopathological diagnosis were evaluated. Read More

View Article and Full-Text PDF

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Dev Med Child Neurol 2021 May 24. Epub 2021 May 24.

Department of Neurology, CDKL5 Center of Excellence, Boston Children's Hospital, Boston, MA, USA.

Aim: To characterize the neuro-ophthalmological phenotype of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a reproducible, quantitative outcome measure.

Method: We retrospectively analyzed clinical data from patients with CDD. Complete neuro-ophthalmological assessments, including visual acuity, were evaluated. Read More

View Article and Full-Text PDF

A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Child Neurol Open 2021 Jan-Dec;8:2329048X211006511. Epub 2021 Apr 23.

Department of Radiology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey.

Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ''M'' shaped upper lip, opened mouth and prominent chin, and developmental delay. Read More

View Article and Full-Text PDF

Feasibility and tolerability of ophthalmic virtual reality as a medical communication tool in children and young people.

Acta Ophthalmol 2021 May 14. Epub 2021 May 14.

Center for medical Image Analysis & Navigation, University, Basel, Switzerland.

Purpose: Virtual reality (VR) can be useful in explaining diseases and complications that affect children in order to improve medical communications with this vulnerable patient group. So far, children and young people's responses to high-end medical VR environments have never been assessed.

Methods: An unprecedented number of 320 children and young people were given the opportunity to interact with a VR application displaying original ophthalmic volume data via a commercially available tethered head-mounted display (HMD). Read More

View Article and Full-Text PDF

Ophthalmological findings in children with non-syndromic craniosynostosis: preoperatively and postoperatively up to 12 months after surgery.

BMJ Open Ophthalmol 2021 26;6(1):e000677. Epub 2021 Apr 26.

Department of Neuroscience/Ophthalmology, Uppsala University, Uppsala, Sweden.

Aims: Craniosynostosis is a congenital condition characterised by premature fusion of one or more cranial sutures. The aim of this study was to analyse ophthalmic function before and after cranial surgery, in children with various types of non-syndromic craniosynostosis.

Methods: Children referred to Uppsala University Hospital for surgery of non-syndromic craniosynostosis were examined preoperatively. Read More

View Article and Full-Text PDF

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel mutation in different clinical manifestations.

Eur J Ophthalmol 2021 May 12:11206721211016306. Epub 2021 May 12.

Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A () mutation in different clinical manifestations.

Case Description: We report a girl with a presentation of multiple brain and ocular anomalies. Read More

View Article and Full-Text PDF

Long-term safety of lumacaftor-ivacaftor in children aged 2-5 years with cystic fibrosis homozygous for the F508del-CFTR mutation: a multicentre, phase 3, open-label, extension study.

Lancet Respir Med 2021 May 6. Epub 2021 May 6.

Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Stanley Manne Children's Research Institute, Chicago, IL, USA; Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Background: A previous phase 3 study showed that lumacaftor-ivacaftor was generally safe and well tolerated over 24 weeks of treatment in children aged 2-5 years with cystic fibrosis homozygous for the F508del-CFTR mutation. In this study, we aimed to assess the long-term safety of lumacaftor-ivacaftor in a rollover study of children who participated in this previous phase 3 study.

Methods: In this multicentre, phase 3, open-label, extension study (study 116; VX16-809-116), we assessed safety of lumacaftor-ivacaftor in children included in a previous multicentre, phase 3, open-label study (study 115; VX15-809-115). Read More

View Article and Full-Text PDF

The performance of an integrated model including retinal information in predicting childhood hypertension.

Pediatr Res 2021 May 4. Epub 2021 May 4.

Beijing Tongren Eye Center, Beijing Tongren Hospital, Beijing Ophthalmology and Visual Sciences Key Laboratory, Capital Medical University, Beijing, China.

Background: The objective of this study was to examine the association of an integrated model (composed of retinal arteriolar caliber, height, and sex) with blood pressure (BP) among a group of Chinese children, and assess the predictive value of the integrated model for childhood hypertension.

Methods: This study included 1460 candidates aged 12.634 ± 0. Read More

View Article and Full-Text PDF

Ocular Findings and Visual Function in Children Examined during the Zika Health Brigade in the US Virgin Islands, March 2018.

Trop Med Infect Dis 2021 Apr 29;6(2). Epub 2021 Apr 29.

United States Virgin Islands Department of Health, Christiansted, VI 00820, USA.

Among children born with laboratory-confirmed Zika virus (ZIKV) infection, visual impairment (VI) can occur despite normal ocular structure. The objective of this report is to describe ocular findings and visual function among children examined during the Department of Health Zika Health Brigade (ZHB) in the United States Virgin Islands in March 2018. This analysis is based on a retrospective chart review of children eligible to participate in the ZHB (i. Read More

View Article and Full-Text PDF

Quantifying visuoperceptual profiles of children with cerebral visual impairment.

Child Neuropsychol 2021 May 4:1-29. Epub 2021 May 4.

Department of Development and Regeneration, University of Leuven (KU Leuven), Leuven, Belgium.

The aim was to develop a visuoperceptual profile schema reflecting visuoperceptual strengths and weaknesses, using neuropsychological tests. Secondly, this schema was used to quantify individual visuoperceptual profiles of children with and without cerebral visual impairment (CVI), and to identify differences in their profiles. Clinical records (2001-2018) of 630 children (386 males, 244 females; median age 77 months; interquartile range 63-98 months) suspected for CVI were reviewed. Read More

View Article and Full-Text PDF

Clinical Classification of Acquired Concomitant Esotropia.

Klin Monbl Augenheilkd 2021 Apr 30;238(4):482-487. Epub 2021 Apr 30.

Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des aveugles, Lausanne, Switzerland.

Background: Classification and management of acquired concomitant esotropia is controversial. We sought to establish a simple clinical classification in order to determine in which cases further investigations in search of underlying pathologies are necessary.

Patients And Methods: Observational retrospective study of the files of 175 consecutive patients examined in our unit between 2009 and 2018 for acute convergent strabismus. Read More

View Article and Full-Text PDF

At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review.

Cancers (Basel) 2021 Apr 17;13(8). Epub 2021 Apr 17.

Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, 1081 HV Amsterdam, The Netherlands.

The aim of this systematic review is to assess the latest age at diagnosis for detection of familial retinoblastoma in order to evaluate at what age screening of at-risk children could be discontinued. Extended screening beyond this age would result in unnecessary patient burden and costs. However, discontinuing screening prematurely would have the adverse effect of missing tumors. Read More

View Article and Full-Text PDF

The Microcephaly Epidemic Research Group Paediatric Cohort (MERG-PC): A Cohort Profile.

Viruses 2021 04 1;13(4). Epub 2021 Apr 1.

Pós-Graduação em Ciências da Saúde, Universidade de Pernambuco, Recife 50100-010, Brazil.

This cohort profile aims to describe the ongoing follow-up of children in the Microcephaly Epidemic Research Group Paediatric Cohort (MERG-PC). The profile details the context and aims of the study, study population, methodology including assessments, and key results and publications to date. The children that make up MERG-PC were born in Recife or within 120 km of the city, in Pernambuco/Brazil, the epicentre of the microcephaly epidemic. Read More

View Article and Full-Text PDF

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Am J Hum Genet 2021 06 27;108(6):1138-1150. Epub 2021 Apr 27.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1. Read More

View Article and Full-Text PDF

Digital therapeutic improves visual acuity and encourages high adherence in amblyopic children in open-label pilot study.

J AAPOS 2021 Apr 25. Epub 2021 Apr 25.

Luminopia Inc, Cambridge, Massachusetts.

Background: The effectiveness of amblyopia therapy can be limited by poor adherence. Dichoptic therapies are a new approach, but recent trials have demonstrated difficulty maintaining high adherence over extended periods of at-home treatment. We evaluated the efficacy and adherence of Luminopia One-a dichoptic treatment that applies therapeutic modifications to streaming content chosen by the patient. Read More

View Article and Full-Text PDF

[Risk factors and prognosis of the development of pseudophakic myopia in children].

Vestn Oftalmol 2021 ;137(2):90-94

Tashkent Pediatric Medical Institute - Ministry of Healthcare, Tashkent, Uzbekistan.

Recent studies indicate the prevalence of myopic refraction in children with pseudophakia, which significantly reduces the functional results of treatment and may be an indication for replacing the intraocular lens (IOL). Therefore, studies conducted to achieve the target refraction in children with pseudophakia are relevant.

Purpose: To determine the risk factors for the prognosis of myopic refraction in children after extraction of congenital cataract and IOL implantation. Read More

View Article and Full-Text PDF

Periventricular leukomalacia: an ophthalmic perspective.

Med J Armed Forces India 2021 Apr 15;77(2):147-153. Epub 2020 Jul 15.

Resident, Department of Ophthalmology, Armed Forces Medical College, Pune, India.

Periventricular leukomalacia (PVL) is a common magnetic resonance imaging (MRI) finding in cases of hypoxic ischemic encephalopathy. PVL, in MRI, is identified by the increased signal intensity of periventricular white matter on T2-weighted sequences which is more conspicuous in the posterior cortex. It occurs because of perinatal damage to the cerebral cortex. Read More

View Article and Full-Text PDF

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intestinal Hypocholesterolemia?

J Pediatr Gastroenterol Nutr 2021 07;73(1):4-8

Univ. Lyon, Hospices Civil de Lyon, Gastro-enterology and Pediatric Nutrition, Reference Center for Intestinal Rare Disease (MaRDi), Hôpital Femme Mere Enfant, Bron.

Abstract: Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprotein B.In children, these conditions present with diarrhoea and growth failure, whereas adults present with neuromuscular, ophthalmological, and hepatic symptoms. Simple laboratory investigations have shown that diagnosis can be made from findings of dramatically decreased cholesterol levels, deficiencies in fat-soluble vitamins (mostly vitamin E), endoscopic findings of the characteristic white intestinal mucosa, and fat-loaded enterocytes in biopsy samples. Read More

View Article and Full-Text PDF

Monitoring and Treatment of Juvenile Idiopathic Arthritis-associated Uveitis: Brazilian Evidence-based Practice Guidelines.

Ocul Immunol Inflamm 2021 Apr 7:1-15. Epub 2021 Apr 7.

Brazilian Society of Pediatric Ophthalmology (SBOP), Sao Paulo/SP, Brazil.

: To present a national guideline for ophthalmologic care and surveillance of juvenile idiopathic arthritis-associated uveitis (JIA-uveitis).: Review article based on medical literature and the experience of an Expert Committee composed of members of the Brazilian Society of Pediatric Ophthalmology/Brazilian Council of Ophthalmology and the Brazilian Society of Pediatrics/Brazilian Society of Rheumatology. Studies with a high level of evidence were selected by searching the PubMed/Medline database. Read More

View Article and Full-Text PDF

Atypical Manifestations of Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children: A Review.

Curr Pediatr Rev 2021 04 6. Epub 2021 Apr 6.

Department of Paediatrics, Patras Medical School, Rion 26504. Greece.

Background: In December 2019, a local outbreak of pneumonia presented in Wuhan (China), and quickly identified to be caused by a novel coronavirus, Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The disease caused by SARS-CoV-2 was named COVID-19 and was soon declared as pandemic because of the millions of infections and thousands of deaths worldwide. Children infected with SARS-CoV-2 usually develop asymptomatic or mild disease compared to adults. Read More

View Article and Full-Text PDF

Oliver McFarlane syndrome: two new cases and a review of the literature.

Ophthalmic Genet 2021 Apr 5:1-10. Epub 2021 Apr 5.

Department of Ophthalmology, Copenhagen University Hospital, Rigshospitalet , Copenhagen, Denmark.

: Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has recently placed this syndrome within the group of -related disorders. Read More

View Article and Full-Text PDF

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Eur J Med Genet 2021 Jun 30;64(6):104210. Epub 2021 Mar 30.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address:

Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Read More

View Article and Full-Text PDF

Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.

Neuroophthalmology 2021 24;45(1):41-44. Epub 2020 Jul 24.

Ophthalmology Department, Hospital Pedro Hispano, Unidade Local De Saúde De Matosinhos, Matosinhos, Portugal.

A six-month-old female child came to an ophthalmology consultation because of a convergent strabismus, myotonia of the orbicularis muscles and difficulty walking in cold environments. Further investigation identified a family history of muscular myotonia in the father, grandmother and uncle. The father also presented with ocular myotonia. Read More

View Article and Full-Text PDF

[Pituitary Hypertrophy].

No Shinkei Geka 2021 Mar;49(2):301-315

Department of Neurosurgery, Uonuma Kikan Hospital, Uonuma Institute of Community Medicine.

Pituitary adenomas are the most common cause of sellar masses although there are a number of other neoplastic, infectious, inflammatory, developmental, and vascular etiologies that should be considered. Pregnancy promotes a physiological increase in the size of the maternal pituitary gland, especially adenohypophysis. The normal maturation sequence of the pituitary gland apparently involves a period of physiological hypertrophy in teenagers. Read More

View Article and Full-Text PDF