1,721,047 research outputs found
How to manage a child presenting with apparently isolated nystagmus?
No full textNystagmus is a type of eye movement which can be physiological (normal), or associated with myriad eye disorders and neurological conditions. As such, it is commonly encountered in paediatric practice and context is key. Accordingly, children who present with apparently isolated nystagmus can cause significant clinical concern due to the bewildering number of underlying aetiologies in an otherwise broadly well child. This is compounded by the complexity of eye movement disorder definitions, descriptions, features and classification systems. Clinical workup and subsequent management of these children can be extremely variable and depend on how, and to whom the child has presented, availability of investigations and cultural familiarity with single specific causes. In this article we take the non-specialist clinician through a methodical approach to managing children with apparently isolated nystagmus in an Q and A format. We provide some key clinical practice points and discuss subsequent management
A molecular-genetic study of Congenital Nystagmus
No full textNystagmus is a disorder of eye movement characterised by irregular, uncontrolled and
repetitive eye movements. It can occur in a broad spectrum of clinical situations and
diseases or it may occur in isolation and an inherited disorder. Surprisingly little is
known about the underlying mechanisms of ocular-motor control. Similarly, the
pathophysiological mechanisms underpinning nystagmus is also poorly understood. By
studying pedigrees in whom nystagmus seems to be inherited as an isolated trait
(Congenital Idiopathic Nystagmus), it may be possible to identify some of the genetic
causes of this disorder and subsequently understand the pathophysiology.This thesis describes a molecular genetic study of congenital nystagmus. A clinical
phenotyping study is followed by linkage analysis and positional cloning. A novel
nystagmus gene is investigated in a large cohort of Congenital Idiopathic Nystagmus
(CIN) patients and X-inactivation studies are performed. Subsequently, cell culture and
RT-PCR work is performed to study expression of this gene. Additionally a pedigree with
an atypical congenital nystagmus disorder is investigated and a new mutation within a
known cerebellar disease gene is identified.This work contributed to the identification of the first gene for Congenital Idiopathic
Nystagmus (CIN). The first detailed temporal expression study of the FRMD7 nystagmus
gene was also performed in this study which has directed further studies into the
pathogenesis of CIN. Identification of a new mutation in the CACNA1A gene in a
pedigree with nystagmus and subtle cerebellar signs has lead to the consideration of
this gene in patients who present to hospital with isolated atypical nystagmus
Current management of paediatric nystagmus
No full textChildren presenting with nystagmus can pose significant challenges for clinicians for a variety of reasons. Here, we discuss the diverse clinical context in which children with nystagmus present and the unique impact it has on visual function. This provides the context for a more structured, robust approach to management of this complex patient group. We describe a methodical approach to a core workup, adaptable to all patients and settings, that can identify important red flags and direct further specialist testing. The role, benefits and limitations of specialist testing modalities required to make a comprehensive diagnosis are then laid out. The role of conventional and nystagmus-specific treatments are detailed with particular attention drawn to the role of ongoing education, information and support for patients and families
How do you manage a child presenting with apparently isolated nystagmus?
No full textNystagmus is a type of eye movement which can be physiological (normal), or associated with myriad eye disorders and neurological conditions. As such, it is commonly encountered in paediatric practice and context is key. Accordingly, children who present with apparently isolated nystagmus can cause significant clinical concern due to the bewildering number of underlying aetiologies in an otherwise broadly well child. This is compounded by the complexity of eye movement disorder definitions, descriptions, features and classification systems. Clinical workup and subsequent management of these children can be extremely variable and depend on how, and to whom the child has presented, availability of investigations and cultural familiarity with single specific causes. In this article we take the non-specialist clinician through a methodical approach to managing children with apparently isolated nystagmus in an Q and A format. We provide some key clinical practice points and discuss subsequent management.</p
A school-based intervention to improve mental health outcomes for children with cerebral visual 2 impairment (CVI): feasibility cluster randomised trial
No full textBackground: cerebral visual impairment (CVI) refers to brain-related vision difficulties, which are often undiagnosed and may lead to poor mental health outcomes. We have developed an intervention to improve mental health outcomes for affected children, and it requires evaluation. The aim of this study was to assess the feasibility of methods proposed for a future definitive cluster randomised trial.Methods: this 18-month study took place in South West England, UK, between 2019 and 2021 including a 6-month pause due to the COVID pandemic. Participants were children aged 7–10 years in mainstream primary schools and their teachers and parents. We recruited head teachers on behalf of their school. The intervention was a resource pack for teachers explaining about CVI, providing universal and targeted strategies to help children with CVI and the offer of CVI assessments at the local eye clinic. The control schools continued with usual practice. Our objectives were to evaluate the feasibility of recruitment and data collection, attrition, acceptability of the study methods and implementation of the intervention. We conducted a process evaluation including interviews and questionnaires.Results: we sent invitation letters to 297 schools, received responses to 6% and recruited 40% of these (7 schools, 1015 children). Parents of 36/1015 (3.5%) children opted out. Baseline data were collected from teachers for 94% children, and 91% children completed self-report questionnaires; parent-report questionnaires were returned for 19% of children. During the exceptional circumstance of the COVID pandemic, two schools left the study, and many children were not attending school, meaning follow-up data were received from 32% of children, 16% of teachers and 14% of parents. Interview data indicated that the intervention was acceptable, and teachers would have preferred on-site eye tests to the offer of a clinic appointment and a clear timetable for study events. Teachers in intervention schools reported expected changes in the children’s and their own behaviour. There was some contamination between study arms.Conclusions: a full-scale trial would be feasible, enhanced by insights from this feasibility trial, in non-pandemic times. Sharing these data with teachers, education policymakers and parents is planned to refine the design.Trial registration: ISRCTN13762177
Comparison of the handheld RETeval ERG system with a routine ERG system in healthy adults and in paediatric patients
No full textBackground: Electroretinograms (ERG) are necessary for the evaluation of retinal function, however testing children is challenging and only performed at a few specialised centres. The handheld RETeval ERG instrument could prove a valuable tool for clinicians in assessing retinal function. This study evaluates this device using an ISCEV approved modified paediatric protocol and compares it to standard methods using a photic stimulator. Subjects and Method: Cone and rod ERGs were recorded using a standard photic stimulator (Grass) and the RETeval device. Both methods involve using skin electrodes, without mydriasis and under dark and light conditions. Two groups of participants were recruited: 44 healthy adult subjects (mean age =39 years) and 37 paediatric patients (mean=5 years). Three of the paediatric patients were not sufficiently compliant to undertake the RETeval recording.Results: Adult ERG reference range data is presented for the RETeval and compared to the standard system. There is lack of absolute agreement in the measurements between the two devices, highlighting the need for device-specific reference data. In the paediatric group there is a high level of diagnostic agreement between both systems (Cohen’s Kappa k = 0.80). The relative sensitivity and specificity of the RETeval was 1.0 and 0.91. Qualitative patient and user feedback is discussed. Conclusions: ERGs are similar between the two methodologies. This study demonstrates that the RETeval device is a useful tool for assessing retinal function in children. Importantly, it is quick, relatively easy to use and can potentially reduce the burden and costs of paediatric electrodiagnostic assessments. A Correction was issued to figure 1 of this paper shortly after publication due to typographical error. The correction can be accessed at the original paper, the additional links on this record and the correction pdf. Pease use figure 1 in the correction not the Accepted Manuscript
Late diagnosis of homocystinurea through ectopia lentis which was addressed with endocapsular vitrector-assisted lensectomy - a case report
No full text- …
