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Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFAniridia is a rare congenital condition of abnormal eye development arising principally from heterozygous mutation of the PAX6 gene. Among the multiple complications arising in the eye, aniridia-associated keratopathy (AAK) is a severe vision-impairing condition of the cornea associated with a progressive limbal stem cell deficiency that lacks suitable treatment options. Current mouse models of aniridia do not accurately represent the onset and progression dynamics of human AAK, hindering therapy development.
View Article and Find Full Text PDFA Review of Contact Lens-Induced Limbal Stem Cell Deficiency.
Biology (Basel)
December 2023
Department of Ophthalmology, National University Hospital, Singapore 119074, Singapore.
Limbal stem cell deficiency (LSCD) is a pathologic condition caused by the dysfunction and destruction of stem cells, stem cell precursors and limbal cell niche in the corneal epithelium, leading to severe conjunctivalization of the cornea. Etiologies for LSCD span from congenital (aniridia), traumatic (chemical or thermal injuries), autoimmune (Stevens-Johnson syndrome) and iatrogenic disease to contact lens (CL) wear. Of these, CL wear is the least understood and is often a subclinical cause of LSCD.
View Article and Find Full Text PDFAn uncommon presentation of WAGR syndrome with persistent fetal vasculature.
J AAPOS
December 2023
Pediatric Ophthalmology and Adult Strabismus Services, Aravind Eye Hospital, Madurai Tamil Nadu, India.
Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature.
View Article and Find Full Text PDFSurgical management of complicated Descemet's membrane detachment in corneas without prior endothelial keratoplasty.
Graefes Arch Clin Exp Ophthalmol
March 2024
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Purpose: To provide insights into morphologic and functional features of eyes with complicated Descemet's membrane detachment (DMD) and report clinical outcomes after surgical intervention.
Methods: Retrospective study of 18 eyes with complicated DMD between 2010 and 2022. Complicated DMD was defined if any of the following criteria applied: prior penetrating keratoplasty (PKP), corneal thinning, total DMD or persistent DMD after Air/Gas-Descemetopexy.
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