The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757637 | PMC |
http://dx.doi.org/10.4103/0974-9233.114804 | DOI Listing |
Mol Genet Metab
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain; Mitochondrial and Neuromuscular Research Group '12 de Octubre', Hospital Research Institute (imas12), Madrid 28041, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:
Background And Objectives: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from exercise intolerance to progressive muscle weakness, often involving ocular muscles, leading to ptosis and progressive external ophthalmoplegia (PEO). PMM can be due to variants in mitochondrial or nuclear DNA.
View Article and Find Full Text PDFBrain Sci
January 2025
Department of Neurology, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Acute vertigo or dizziness is a frequent presentation to the emergency department (ED), making up between 2.1% and 4.4% of all consultations.
View Article and Find Full Text PDFClin Neurophysiol
January 2025
Ghent University, Department of Rehabilitation Sciences, Corneel Heymanslaan 10 9000 Ghent, Belgium; Ghent University Hospital, Department of Otorhinolaryngology, Corneel Heymanslaan 10 9000 Ghent, Belgium.
Objective: The study aimed to explore the vestibular function in children with neurodevelopmental disorders (NDDs).
Methods: Twenty-eight participants with a NDD (6 girls, 22 boys; 6-13 years; 9;3 ± 2;4 years) were enrolled in this pilot study. Sixteen participants had a single NDD (Autism Spectrum Disorder: n = 7, Developmental Coordination Disorder: n = 3; Attention Deficit/Hyperactivity Disorder: n = 6), the remaining 12 had comorbid NDDs.
Front Neuroanat
January 2025
Department of Molecular Medicine, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Hodological patterning refers to developmental mechanisms that link the location of neurons in the brain or spinal cord to specific axonal trajectories that direct connectivity to synaptic targets either within the central nervous system or in the periphery. In vertebrate motor circuits, hodological patterning has been demonstrated at different levels, from the final motor output of somatic and preganglionic autonomic neurons targeting peripheral motoneurons and ganglion cells, to premotor inputs from spinal and brainstem neuron populations targeting the somatic motoneurons and preganglionic autonomic neurons, to cortical neurons that delegate movement commands to the brainstem and spinal neurons. In many cases molecular profiling reveals potential underlying mechanisms whereby selective gene expression creates the link between location and axon trajectory.
View Article and Find Full Text PDFCureus
December 2024
Department of Ophthalmology, Hospital Universiti Kebangsaan Malaysia, Kuala Lumpur, MYS.
Background The objective of this review is to study the demographics, aetiology, clinical findings, and surgical outcomes of patients who presented with ocular trauma and underwent emergency operations at Hospital Kuala Lumpur, Malaysia. Methods Patients who presented from 2016 to 2023 with ocular trauma and underwent emergency ocular surgery were identified and their medical records were reviewed with respect to demographics, mechanism of injury, type of injury, initial presenting visual acuity and final visual acuity after surgery. Components of the ocular trauma score (OTS) were also recorded.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!