Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-0034-1368281 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFCraniosynostosis incidence with abnormalities of orbital axis on patients under 8 years old.
Surg Neurol Int
December 2024
Department of Ophthalmology, Dr. Soetomo General and Academic Hospital, Surabaya, East Java, Indonesia.
Background: Craniosynostosis may result in malformations of the orbit, which can be observed in clinical presentations. Craniosynostosis impairs the normal growth of the skull, which typically occurs perpendicular to the fused suture. Craniosynostosis is classified into non-syndromic and syndromic, with an incidence of 1: 2000-2500 live births.
View Article and Find Full Text PDFEffects on Posture of a Two-Diopter Horizontal Prism Base Out on the Non-Dominant Eye.
J Clin Med
December 2024
Ophthalmology Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, 53100 Siena, Italy.
: Ocular proprioception is implicated in balance control and heterophoria is associated with abnormal posture, though previous research focused mainly on the role of vertical phoria and the use of vertical prisms. This study aims to evaluate whether ocular misalignment and prismatic correction of horizontal phoria affect posture. : Sixty-nine ( = 69) young healthy subjects were included and equally divided by horizontal distance phoria: orthophoria ( = 23), esophoria ( = 23) and exophoria ( = 23).
View Article and Find Full Text PDFOcular and Systemic Abnormalities in Punctal Agenesis.
Ophthalmic Plast Reconstr Surg
October 2024
Division of Ophthalmology, Children's Hospital of Philadelphia.
Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.
View Article and Find Full Text PDFPtosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment.
Clin Neurol Neurosurg
December 2024
Department of Neurosciences and Mental Health, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal; Faculdade de Medicina-Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Universidade de Lisboa, Lisbon, Portugal.
Objective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature.
Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!