Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.

Background: We investigated the corneal biomechanical properties and their genotype-phenotype correlation correlations in patients with Marfan syndrome (MFS) and ectopia lentis (EL).

Methods: Patients with MFS with EL underwent panel-based next-generation sequencing in this retrospective cohort study. The FBN1 genotypes were categorized into the dominant-negative (DN) group and the haploinsufficiency (HI) group.

Advanced Artificial-Intelligence-Based Jiang Formula for Intraocular Lens Power in Congenital Ectopia Lentis.

Purpose: The purpose of this study was to develop an artificial intelligence (AI)-based intraocular lens (IOLs) power calculation formula for improving the accuracy of IOLs power calculations in patients with congenital ectopia lentis (CEL).

Methods: A total of 651 eyes with CEL that underwent IOLs implantation surgery were included in this study. An AI-based ensemble formula-the Jiang Formula, was developed using a training dataset of 520 eyes and evaluated on a testing dataset of 131 eyes.

Corrigendum: Clinical ocular prediction model of postoperative ametropic amblyopia in patients with congenital ectopia lentis.

[This corrects the article DOI: 10.3389/fmed.2024.

Improving the accuracy of lens formulas for in-the-bag intraocular lens implantation in Marfan syndrome patients with ectopia lentis.

Purpose: To improve the accuracy of intraocular lens (IOL) power calculation formulas by modifying the effective lens position (ELP) equations for patients with Marfan syndrome (MFS) and ectopia lentis (EL) undergoing in-the-bag IOL implantation.

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

Design: Retrospective cohort study.

Clinical ocular prediction model of postoperative ametropic amblyopia in patients with congenital ectopia lentis.

Introduction: Despite prompt and appropriate surgical management, a considerable proportion of patients with congenital ectopia lentis (CEL) suffer from postoperative ametropic amblyopia. To predict and identify at-risk patients early, and ensure timely amblyopia treatment, we conducted a thorough investigation into the onset and progression patterns of postoperative amblyopia in patients with CEL. Moreover, an ocular prediction model was constructed for amblyopia.

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.

Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis.

Aims: The aim of this study was to analyse the effective lens position (ELP) in patients with Marfan syndrome (MFS) and ectopia lentis (EL).

Methods: Patients with MFS undergoing lens removal and primary intraocular lens (IOL) implantation were enrolled in the study. The back-calculated ELP was obtained with the vergence formula and compared with the theoretical ELPs.

Safety and efficacy of capsular tension ring and capsular hook implantation for managing ectopia lentis in Marfan syndrome: real-world study.

Purpose: To evaluate the safety and efficacy of capsular tension ring and capsular hook (CTR-CH) implantation in Marfan syndrome (MFS) patients with ectopia lentis (EL).

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

Design: Retrospective propensity score-matched cohort study.

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.

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'.

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.

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).

Novel aptasensor-based assay of sonic hedgehog ligand for detection of portal vein invasion of hepatocellular carcinoma.

The high expression of sonic hedgehog ligand (SHh) is closely correlated to the metastasis, drug resistance and poor prognosis of hepatocellular carcinoma (HCC). Therefore, sensitive, specific and efficient detection methods for SHh are needed for the early diagnosis and assessment of prognosis. Herein, an aptamer, AP32 that specifically binds to SHh (K = 25.

Advances in detection of infectious agents by aptamer-based technologies.

Infectious diseases still remain one of the biggest challenges for human health. Accurate and early detection of infectious pathogens are crucial for transmission control, clinical diagnosis, and therapy. For a traditional reason, most immunological and microbiological laboratories are equipped with instruments designated for antibody-based assays in detection of infectious pathogens or clinical diagnosis.