An Eosinophilic Variant of Orbital Granulomatosis with Polyangiitis with Ocular Motility Disorder [PDF]
Sung Eun Im, Ji Eun Lee
openalex +1 more source
Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck+15 more
wiley +1 more source
Abnormal Downward Gaze and Cold Caloric Examination Due to Propofol: A Case Study [PDF]
Background: Adolescent patient with isolated abnormal downward gaze and oculovestibular (cold caloric) testing during propofol administration prompting concern of brainstem injury.
O\u27Meara, Alia+2 more
core +2 more sources
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Pattern of ocular manifestations in Egyptian infants with cholestatic disorders
Background Neonatal and infantile cholestasis can be associated with ocular findings that might aid in the diagnosis of diseases such as Alagille syndrome (AGS) and Niemann–Pick disease (NPD).
Dalia H Khalil+4 more
doaj +1 more source
Ophthalmologic Manifestations in Autism Spectrum Disorder
Objectives:The purpose of this study was to describe the ophthalmologic manifestations found in patients with autism spectrum disorder (ASD) and to assess their prevalence in the different types of ASD.Materials and Methods:This prospective observational
Carlota Gutiérrez+3 more
doaj +1 more source
Alteration Ocular Motility in Retinitis Pigmentosa: Case–Control Study
Purpose To evaluate ocular motility (OM) disorders and strabismus in a sample of patients with retinitis pigmentosa (RP) and a control sample. Methods In this cross-sectional retrospective analysis, we studied a sample of RP patients with a mean age of ...
A. Comberiati+7 more
semanticscholar +1 more source
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer+11 more
wiley +1 more source
Internuclear and Supranuclear Disorders of Eye Movement
Eye movements let us fixate on and follow a moving visual target. These movements are performed by the ocular motor system that is divided according to anatomic location into infranuclear, nuclear, internuclear, and supranuclear components.
Mehmet Karataş
doaj
Quantifying the vertical fusion range at four distances of fixation in a normal population. [PDF]
Aim: To compare the vertical fusional amplitudes in isometropic participants with normal binocular single vision at four distances of fixation: 33 cm, 1 m, 4 m, 6 m.
Firth, A.Y., Griffiths, H.J., Ulyat, K.
core