The author discusses an extended list of the ophthalmic signs and symptoms of neurologic disease (some of which were once considered to be benign or isolated eye problems) under the general categories of vision problems, pupil signs, eye movement disorders, fundus abnormalities, and eyelid abnormalities.
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http://dx.doi.org/10.1016/s0031-3955(16)34505-9 | DOI Listing |
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFJ Neuroophthalmol
January 2025
Departments of Ophthalmology (DB, G-SY, GTL, RAA) and Neurology (DB, GTL, RAA), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and Division of Ophthalmology (AG, GTL, RAA), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Background: In children, pseudopapilledema is frequently caused by peripapillary hyperreflective ovoid mass-like structures (PHOMS) or optic disc drusen (ODD). While enhanced depth imaging (EDI) OCT can identify both, lack of cooperation, especially from younger children due to the duration of testing, often necessitates the use of B-scan ultrasound (BSUS). This study investigated whether PHOMS are hyperreflective on BSUS and if BSUS can differentiate PHOMS from ODD.
View Article and Find Full Text PDFIndian J Ophthalmol
December 2024
The Bodhya Eye Consortium, India.
Purpose: To study the clinical profile of patients with microspherophakia and the factors associated with poor vision following lensectomy surgery.
Methods: A multicenter, retrospective, cross-sectional analysis was conducted from January 2010 to June 2022 on patients diagnosed with microspherophakia.
Results: A total of 102 eyes from 51 patients were enrolled, of whom 24 (47.
J Neuroophthalmol
December 2024
Ophthalmology Unit (JG-B, PR-A, MG-B, MAP-S, BD-G), Hospital Clinico San Carlos, Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos (IdISSC), Madrid, Spain; and Neuro-Ophthalmology Unit (BD-G), Hospital Clinico San Carlos, Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos (IdISSC), Madrid, Spain.
Brain
December 2024
Department of Neurology, Multiple sclerosis center, Pitié-Salpêtrière Hospital, AP-HP, 47 bd de l'Hôpital, 75013 Paris, France.
The development of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) has been highly successful in recent decades. It is now widely accepted that early initiation of DMTs after disease onset is associated with a better long-term prognosis. However, the question of when and how to de-escalate or discontinue DMTs remains open and critical.
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