48 results match your criteria: "The University of Leicester Ulverscroft Eye Unit[Affiliation]"
Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study.
Am J Ophthalmol
January 2025
From the Clinical and Academic Department of Ophthalmology (S.R.R., O.R.M., V.P., D.A.T., R.H. H., S.G., R.B.), Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, UK.
Objective: To evaluate optic nerve head (ONH) morphology in children with craniosynostosis versus healthy controls.
Design: Single-center, prospective cohort study.
Methods: Handheld optical coherence tomography (OCT) was performed in 110 eyes of 58 children (aged 0-13 years) with craniosynostosis.
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Ann Neurol
November 2024
Department of Biology, Chungnam National University, Daejeon, South Korea.
Article Synopsis
- X-linked intellectual disability (XLID) is a genetic condition affecting primarily males, leading to cognitive and physical impairments and associated with genetic defects on the X chromosome.
- Researchers identified specific genetic variants in the SRPK3 gene linked to XLID in nine patients and developed a zebrafish model to study SRPK3's function.
- The study found that mutations in SRPK3 are tied to common symptoms seen in XLID, including intellectual disability and abnormal eye movement, emphasizing its critical role in neurodevelopmental disorders.
Improved feasibility of handheld optical coherence tomography in children with craniosynostosis.
Eye (Lond)
October 2024
Craniofacial Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health, London, UK.
Visual Field Deficits in Albinism in Comparison to Idiopathic Infantile Nystagmus.
Invest Ophthalmol Vis Sci
February 2024
The University of Leicester Ulverscroft Eye Unit, Psychology and Vision Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester, United Kingdom.
Purpose: This is the first systematic comparison of visual field (VF) deficits in people with albinism (PwA) and idiopathic infantile nystagmus (PwIIN) using static perimetry. We also compare best-corrected visual acuity (BCVA) and optical coherence tomography measures of the fovea, parafovea, and circumpapillary retinal nerve fiber layer in PwA.
Methods: VF testing was performed on 62 PwA and 36 PwIIN using a Humphrey Field Analyzer (SITA FAST 24-2).
Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors.
Invest Ophthalmol Vis Sci
February 2024
The University of Leicester Ulverscroft Eye Unit, Psychology and Vision Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester, United Kingdom.
Albinism is a spectrum disorder causing foveal hypoplasia, nystagmus, and hypopigmentation of the iris and fundus along with other visual deficits, which can all impact vision. Albinism is also associated with amblyogenic factors which could affect monocular visual acuity. The foveal appearance in albinism can range from mild foveal hypoplasia to that which is indistinguishable from the peripheral retina.
View Article and Find Full Text PDFA novel portable flip-phone based visual behaviour assay for zebrafish.
Sci Rep
January 2024
The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, RKCSB, PO Box 65, Leicester, LE2 7LX, UK.
Article Synopsis
- The optokinetic reflex (OKR) is crucial for assessing visual system development in infants and can be effectively studied using zebrafish larvae due to their rapid growth and suitability as a model organism.
- This research introduces a new, portable OKR assay that utilizes the Samsung Galaxy Z Flip, contrasting it with a traditional LCD setup for zebrafish testing.
- The study found that both assays successfully measured eye movements with similar accuracy and no significant differences in results, highlighting the advantages of the new approach in terms of convenience and cost-effectiveness.
Retraction Note: Eye tracking: empirical foundations for a minimal reporting guideline.
Behav Res Methods
January 2024
Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, The Netherlands.
Retinal imaging technologies in cerebral malaria: a systematic review.
Malar J
April 2023
Department of Eye & Vision Sciences, University of Liverpool, Liverpool, UK.
Article Synopsis
- Cerebral malaria (CM) is a serious health problem in parts of Africa and is linked to changes in the eyes called malarial retinopathy (MR).
- Researchers are using special eye imaging techniques to better understand CM and improve diagnosis.
- The study suggests that using these imaging methods, especially with AI help, can lead to better treatments and understanding of the disease in places where doctors might not have much training.
Eye movement defects in KO zebrafish reveals as a causative gene for an X-linked intellectual disability.
Res Sq
March 2023
Department of Biology, Chungnam National University, Daejeon 34134, South Korea.
Article Synopsis
- Intellectual disability (ID) is a common disorder that affects cognitive and adaptive functioning, with X-linked intellectual disability (XLID) impacting 1.7 out of 1,000 males due to mutations on the X chromosome.
- Researchers identified three specific mutations in a gene related to XLID in seven patients from different families, all of whom exhibited common symptoms such as intellectual disability and abnormal eye movements.
- A zebrafish model was created to study the gene's function, revealing that knockout (KO) zebrafish had significant developmental issues, supporting the gene's role in learning and psychiatric disorders.
Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood.
Am J Ophthalmol
January 2023
From the University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom.
Meeting Presentation: Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting.
Purpose: To investigate the time course of foveal development after birth in infants with albinism.
Design: Prospective, comparative cohort optical coherence tomography study.
Feasibility of a portable optical coherence tomography system in children with craniosynostosis.
Eye (Lond)
February 2023
Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
Anterior displacement of Bruch's membrane: a useful sign for intracranial hypertension in craniosynostosis.
Eye (Lond)
February 2023
Craniofacial Surgery Center and Division of Plastic Surgery, The Children's Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, PA, USA.
Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Transl Vis Sci Technol
June 2022
Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Purpose: We aim to report noncoding pathogenic variants in patients with FRMD7-related infantile nystagmus (FIN).
Methods: Genome sequencing (n = 2 families) and reanalysis of targeted panel next generation sequencing (n = 2 families) was performed in genetically unsolved cases of suspected FIN. Previous sequence analysis showed no pathogenic coding variants in genes associated with infantile nystagmus.
Correction: Feasibility and clinical utility of handheld fundus cameras for retinal imaging.
Eye (Lond)
February 2023
The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, LE2 7LX, UK.
Eye tracking: empirical foundations for a minimal reporting guideline.
Behav Res Methods
January 2023
Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, The Netherlands.
In this paper, we present a review of how the various aspects of any study using an eye tracker (such as the instrument, methodology, environment, participant, etc.) affect the quality of the recorded eye-tracking data and the obtained eye-movement and gaze measures. We take this review to represent the empirical foundation for reporting guidelines of any study involving an eye tracker.
View Article and Find Full Text PDFComprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
July 2022
Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM.
View Article and Find Full Text PDFGenotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
June 2022
The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom; Foveal Development Investigators Group. Electronic address:
Article Synopsis
- - The study aimed to analyze the genotypic and phenotypic aspects of foveal hypoplasia (FH) in patients with specific genetic conditions, including albinism and PAX6 mutations, among others.
- - In a group of 907 participants, albinism was identified as the most common cause of typical FH, and the research showed notable differences in visual acuity and FH grading based on the underlying genetic diagnosis.
- - The findings indicated that different types of albinism exhibited varying severities of FH and visual problems, with ocular albinism and Hermansky-Pudlak syndrome showing worse outcomes compared to oculocutaneous albinism.
Feasibility and clinical utility of handheld fundus cameras for retinal imaging.
Eye (Lond)
February 2023
Department of Neuroscience, Psychology and Behaviour, The University of Leicester Ulverscroft Eye Unit, University of Leicester, RKCSB, Leicester, LE2 7LX, UK.
Background/objectives: Handheld fundus cameras are portable and cheaper alternatives to table-top counterparts. To date there have been no studies comparing feasibility and clinical utility of handheld fundus cameras to table-top devices. We compare the feasibility and clinical utility of four handheld fundus cameras/retinal imaging devices (Remidio NMFOP, Volk Pictor Plus, Volk iNview, oDocs visoScope) to a table-top camera (Zeiss Visucam).
View Article and Find Full Text PDFAims: To assess the diagnostic accuracy of fundoscopy and visual evoked potentials (VEPs) in detecting intracranial hypertension (IH) in patients with craniosynostosis undergoing spring-assisted posterior vault expansion (sPVE).
Methods: Children with craniosynostosis undergoing sPVE and 48-hour intracranial pressure (ICP) monitoring were included in this single-centre, retrospective, diagnostic accuracy study. Data for ICP, fundoscopy and VEPs were analysed.
Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans.
J Neuroophthalmol
December 2023
The University of Leicester Ulverscroft Eye Unit (HJK, RJM, AA, GDEM, IG, MGT), Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, Leicester, United Kingdom; and Health Sciences School (GDEM), Division of Ophthalmology & Orthoptics, University of Sheffield, United Kingdom.
Patterns of attendances to the hospital emergency eye care service: a multicentre study in England.
Eye (Lond)
December 2022
Eye Department, St Thomas' Hospital, Westminster Bridge Road, London, SE1 7EH, UK.
Background/objectives: To characterise the patterns of presentation and diagnostic frequencies in Hospital Emergency Eye Care Services (HEECS) across 13 hospitals in England.
Methods: Retrospective, cross-sectional, observational multi-centre (n = 13) study to assess HEECS attendances over a 28-day study period. Data derived included: number of consecutive attendances, patient demographics and diagnoses.
Ocular Manifestations of PNPT1-Related Neuropathy.
J Neuroophthalmol
September 2021
Department of Neuroscience, Psychology and Behaviour (HJK, MH, GDEM, MGT), The University of Leicester Ulverscroft Eye Unit, University of Leicester, RKCSB, Leicester, United Kingdom ; Market Rasen Surgery (KAT), Lincolnshire, United Kingdom ; and Division of Ophthalmology and Orthoptics (GDEM), University of Sheffield, Sheffield, United Kingdom .
Correction to: Prevalence, indications and demographic characteristics of Botulinum neurotoxin use in a tertiary oculoplastic centre.
Eye (Lond)
July 2022
Department of Ophthalmology, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, UK.
Feasibility and Repeatability of Handheld Optical Coherence Tomography in Children With Craniosynostosis.
Transl Vis Sci Technol
July 2021
The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK.
Purpose: To determine whether handheld optical coherence tomography (OCT) is feasible and repeatable in children with craniosynostosis.
Methods: This was a prospective cross-sectional study. Children with syndromic and non-syndromic craniosynostosis 0 to 18 years of age were recruited between February 13, 2020, and October 1, 2020.
Prevalence, indications and demographic characteristics of Botulinum neurotoxin use in a tertiary oculoplastic centre.
Eye (Lond)
July 2022
Department of Ophthalmology, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester, United Kingdom.
Objectives: Over the past 40 years, Botulinum Neurotoxin (BoNT) treatment has been used in many presentations to the hospital eye service. There is little published on its practice in an ophthalmology setting. We aim to report on the prevalence of BoNT use, indications for treatment, age, gender, socioeconomic and ethnic variations observed, and dosages used.
View Article and Find Full Text PDF