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Improving the diagnostic accuracy of referrals for papilloedema (DIPP) study: protocol for a mixed-methods study.
BMJ Open
January 2025
Bristol Eye Hospital, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK.
Introduction: Papilloedema can be the first sign of life-threatening disease, for example, brain tumours. Due to the potential seriousness of this clinical sign, the detection of papilloedema would normally prompt urgent hospital referral for further investigation. The problem is that many benign structural variations of optic nerve anatomy can be mistaken for papilloedema, so-called pseudopapilloedema.
View Article and Find Full Text PDFGene and phenome-based analysis of the shared genetic architecture of eye diseases.
Am J Hum Genet
January 2025
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address:
While many eye disorders are linked through defects in vascularization and optic nerve degeneration, genetic correlation studies have yielded variable results despite shared features. For example, glaucoma and myopia both share optic neuropathy as a feature, but genetic correlation studies demonstrated minimal overlap. By leveraging electronic health record (EHR) resources that contain genetic variables such as genetically predicted gene expression (GPGE), researchers have the potential to improve the identification of shared genetic drivers of disease by incorporating knowledge of shared features to identify disease-causing mechanisms.
View Article and Find Full Text PDFPrevalence and Clinical Associations of Peripapillary Hyperreflective Ovoid Mass-like Structures in Craniosynostosis.
J Neuroophthalmol
January 2025
Department of Ophthalmology (JGJ-C, TE, Y-HC, LRD, RAG), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Frank H. Netter Medical School (JGJ-C), North Haven, Connecticut; and Department of Anesthesiology (DZ), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Background: Patients with craniosynostosis are at high risk of developing elevated intracranial pressure (ICP) causing papilledema and secondary optic atrophy. Diagnosing and monitoring optic neuropathy is challenging because of multiple causes of vision loss including exposure keratopathy, amblyopia, and cognitive delays that limit examination. Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are an optical coherence tomography (OCT) finding reported in association with papilledema and optic neuropathy.
View Article and Find Full Text PDFPain and Headache in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.
Curr Pain Headache Rep
January 2025
Department of Neurology, Weill-Cornell-Medicine, 1305 York Avenue, New York City, NYC, 10021, USA.
Purpose Of Review: The purpose of this review is to evaluate the current knowledge and recent findings on different pain and headache presentations associated with Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) disease.
Recent Findings: MOGAD is an inflammatory autoimmune disease affecting mostly the central nervous system, presenting with optic neuritis, transverse myelitis and other forms of inflammatory demyelination. Pain and headache in MOGAD have been recognized more recently and acute and chronic forms of pain can occur in both the adult and pediatric population.
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