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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 PDFStandardized Assessment of Health-Related Quality of Life in Patients with Congenital Aniridia.
Klin Monbl Augenheilkd
December 2024
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Saarbrücken, Germany.
Introduction: Congenital aniridia is a rare panocular disorder that is associated with varying degrees of impairment of visual acuity. The COST Action (CA18116) developed a survey (aniridia-net.eu) to assess patient-reported experiences with congenital aniridia and its impacts on vision and daily life.
View Article and Find Full Text PDFThe Triple Procedure in Patients with Congenital Aniridia.
J Clin Med
November 2024
Chair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, 65 Panewnicka Street, 40-760 Katowice, Poland.
Aniridia is a rare panocular, bilateral, and congenital disease characterized by complete or partial iris hypoplasia and foveal hypoplasia, leading to decreased visual acuity and nystagmus. AAK, also referred to as aniridic keratopathy, manifests as corneal surface damage, epithelial thinning or loss, inflammation with immune cell infiltration, vascularization, and chronic progressive opacification. Twenty-one eyes in eighteen patients with aniridia underwent the triple procedure for visual rehabilitation.
View Article and Find Full Text PDFGenetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Orphanet J Rare Dis
October 2024
Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200031, China.
Article Synopsis
- Congenital aniridia is a rare eye condition leading to iris absence, which often results in serious complications like blindness and glaucoma.
- A study of 60 patients in China identified genetic mutations, mostly in the PAX6 gene, using advanced genetic analysis methods that revealed a 98.3% mutation detection rate.
- The findings highlight the genetic diversity of aniridia within families and emphasize the importance of understanding these mutations for potential therapeutic approaches.
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.
Curr Med Sci
August 2024
Senior Department of Opthalmology, the Third Medical Center of Chinese PLA General Hospital, Beijing, 100039, China.
Objective: To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.
Methods: A comprehensive questionnaire and ophthalmological assessments were administered to both affected patients and unaffected relatives. The clinical feature analysis included the evaluation of visual acuity, intraocular pressure, slit-lamp anterior segment examination, fundus photography, and spectral domain optical coherence tomography.
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