Genotype Associated With Visual Prognosis in Patients With Congenital Ectopia Lentis Following Lens Surgery: A Prospective Cohort Study.

Purpose: To investigate the relationship between visual prognosis and genotype in patients undergoing lens surgery for congenital ectopia lentis (EL).

Design: Prospective clinical cohort study.

Methods: Patients with congenital EL who underwent lens removal and intraocular lens implantation received panel-based next-generation sequencing.

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

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.

Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.

Purpose: The purpose of this study was to investigate the relationship between axial length (AL) growth and FBN1 genotype in patients with Marfan syndrome (MFS) after lens surgery and customize the selection of intraocular lens (IOL) power.

Methods: Patients with MFS who had lens surgery and primary IOL implantation received panel-based next-generation sequencing (NGS). The rate of axial length growth (RALG) was calculated using pre- and postoperative AL measurements and corrected log10-transformed age.

Morphometric Assessment of the Ciliary Body in Patients With Marfan Syndrome and Ectopia Lentis: A Quantitative Study Using Ultrasound Biomicroscopy.

Purpose: To explore the biometric characteristics of the ciliary body in patients with Marfan syndrome (MFS) and ectopia lentis (EL).

Design: Cross-sectional study.

Methods: Seventy-two consecutive patients with MFS and EL and 72 nondiseased control subjects were recruited.

Predicting axial length in patients with Marfan syndrome and ectopia lentis after modified capsular tension ring and intraocular lens implantation.

Purpose: To predict the growth of axial length (AL) in patients with Marfan syndrome (MFS) and ectopia lentis (EL).

Setting: Eye and ENT Hospital of Fudan University, Shanghai, China.

Design: Consecutive retrospective case series.

Supracapsular scleral sutured intraocular lens implantation in anterior segment dysgenesis patients with ectopia lentis.

Objective: To describe a new strategy to manage ectopia lentis in ASD patients assessing the visual outcomes and safety of supracapsular scleral sutured intraocular lens implantation and analyzing the accuracy of different intraocular lens (IOL) power calculation formulae.

Methods: Eight patients with ASD (13 eyes) were underwent supracapsular scleral suture fixation of posterior chamber (PC) IOL without capsular extirpation. The preoperative and postoperative clinical features were compared.

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.

Background: Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype-phenotype correlations have been established yet.

Methods: Potentially pathogenic SUOX mutations were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing and analyzed with multiple bioinformatics tools.

Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype-phenotype correlation has not been established. Potentially pathogenic ADAMTSL4 variants were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing followed by multiple bioinformatics analyses.

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.

Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized by a wide range of clinical manifestations. The underlying molecular defect is caused by variants in the . Meanwhile, variants are also detected in a spectrum of connective tissue disorders collectively termed as 'type I fibrillinopathies'.

Comparison of Accuracy in Keratometries Measured by Different Camera Devices for Predicting the Intraocular Lens Power in Lens-Dislocated Patients.

Introduction: This is a cross-sectional cohort study focused on assessing the influence of ocular biometric parameters of different camera devices for accurately predicting the intraocular lens (IOL) power in congenital ectopia lentis (EL) patients.

Methods: This study includes a total of 91 eyes of 60 patients with congenital EL from June 2018 to April 2021. All patients underwent lens subluxation surgery with Cionni modified capsular tension rings implantation.

Biometric and Structural Ocular Manifestations of Anterior Megalophthalmos.

Objective: The aim of this study was to examine the biometric ocular manifestations and structural ocular features of anterior megalophthalmos (AM).

Methods: Fifteen patients with AM (30 eyes) from the Eye & ENT Hospital of Fudan University were included. The age-matched control group consisted of 30 participants (30 eyes) who underwent Pentacam HR and IOLMaster 700 measurements for one normal eye.

Phacoemulsification Combined With Supra-Capsular and Scleral-Fixated Intraocular Lens Implantation in Microspherophakia: A Retrospective Comparative Study.

Background: Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.

Methods: This study included MSP eyes managed with phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation (SCSF-IOL) and made the comparison with those treated by transscleral-fixated modified capsular tension ring and in-the-bag intraocular lens implantation (MCTR-IOL).

Results: A total of 20 MSP patients underwent SCSF-IOL, and 17 patients received MCTR-IOL.

Effect of Different Preoperative Intraocular Pressures on the Prognosis of Traumatic Cyclodialysis Cleft Associated with Lens Subluxation.

Purpose: To evaluate the prognosis of patients with blunt trauma-mediated cyclodialysis cleft and lens subluxation treated by dual capsular tension rings (CTRs) with different preoperative intraocular pressures (IOPs).

Methods: Twenty-five patients with cyclodialysis cleft and lens subluxation after blunt trauma were recruited in this study. They were categorized into the low IOP group (IOP < 10 mmHg) and normal IOP group (between 10 mm and 21 mmHg).

Lens Biometry in Congenital Lens Deformities: A Swept-Source Anterior Segment OCT Analysis.

To investigate the lens biometric parameters in congenital lens deformities, using a novel technique of swept-source anterior segment optical coherence tomography (SS-ASOCT). This prospective study included patients with microspherophakia (MSP), coloboma lentis (CL), and posterior lenticonus (PL). For this cohort, 360-degree high-resolution lens images were obtained using the latest SS-ASOCT (CASIA2, Tomey Corp, Nagoya, Japan).

Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.

Purpose: To evaluate the diagnostic yield of congenital ectopia lentis (EL) in a Chinese cohort by combining panel-based next-generation sequencing with clinical findings.

Design: A cohort study.

Methods: In total, 175 patients with congenital EL and their available family members (n = 338) were enrolled.

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.

Mutations of fibrillin-1 (FBN1) have been associated with Marfan syndrome and pleiotropic connective tissue disorders, collectively termed as "type I fibrillinopathy". However, few genotype-phenotype correlations are known in the ocular system. Patients with congenital ectopia lentis (EL) received panel-based next-generation sequencing, complemented with multiplex ligation-dependent probe amplification.

Analysis of Axial Length in Young Patients with Marfan Syndrome and Bilateral Ectopia Lentis by Z-Scores.

Introduction: Marfan syndrome (MFS) is characterized by ectopia lentis (EL) and elongated axial length (AL). The characteristics of AL in young patients with MFS and bilateral EL before the lens surgery are not fully understood.

Methods: This study reviewed MFS patients under 20 years old with bilateral EL from January 2015 to October 2020.

Effects of dissolved oxygen on the sludge dewaterability and extracellular polymeric substances distribution by bioleaching.

Bioleaching is a biological conditioning technology for sludge, which not only improves sludge dewatering performance but also removes heavy metals from sludge. As the bioleaching process is a comprehensive biological and chemical process, it is necessary to explore the effects of dissolved oxygen (DO) concentrations on bioleaching efficiency. Three bioleaching experiments with different DO concentrations (T1: 0.