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Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
Gene
October 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China; NHC Key Laboratory of Myopia (Fudan University), Key Laboratory of Myopia, Chinese Academy of Medical Sciences, Shanghai 200031, China; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China. Electronic address:
Background: Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition.
Methods: We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort.
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Exp Eye Res
September 2023
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, Guangdong Province, China. Electronic address:
Weill-Marchesani syndrome (WMS) manifests as ectopia lentis (EL), microspherophakia and short stature, which is caused by ADAMTS10, LTBP2, or ADAMTS17 gene defects. This study aims to investigate the characteristics and genotype-phenotype correlations of WMS with ADAMTS17 mutations. WMS patients with ADAMTS17 variants were identified by whole-exome sequencing from 185 patients with EL.
View Article and Find Full Text PDFA Novel Mutation in the Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Int J Mol Sci
May 2023
The Shraga Segal Department of Microbiology, Immunology & Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.
Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. We investigated the genetic cause of a unique and novel presentation of heart-developed membranes in the supra-pulmonic, supramitral, and subaortic areas, creating stenosis that recurred after their surgical resection in four patients from one extended consanguineous family.
View Article and Find Full Text PDFNovel homozygous missense variant in Weill-Marchesani syndrome.
Int J Ophthalmol
May 2023
Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China.
Aim: To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.
Methods: Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed.
Kissing microvitreoretinal blade technique: A novel approach for safe and effective endocapsular lens aspiration in microspherophakia.
Indian J Ophthalmol
October 2022
Cornea, Cataract, Refractive Surgery and Ocular Surface Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with abnormally lax and broken zonules, which pose a great challenge to the operating surgeon, especially while creating the openings in the capsular bag. In this novel technique, simultaneous use of two 23 G MVR blades reduces the above problem associated with the severely mobile lens.
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