Publications by authors named "Shih-Jen Chen"

Gene therapy offers a promising treatment for Leber's hereditary optic neuropathy (LHON), a disease of retinal ganglion cell (RGC) degeneration with severe vision loss caused by mitochondria-NADH dehydrogenase 4 (MT-ND4) mutations. However, optimizing mitochondria-targeted gene delivery to promote RGC regeneration and visual-photoreception recovery remains challenging in LHON. Here, mitochondria-targeted wireless charging gold nanoparticles (WCGs), doubling as a wireless charging-mediated gene-delivery platform and electric stimulus-restored phototransduction, are developed for LHON treatment.

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To establish a consensus for surgical management of full-thickness macular hole (FTMH) and macular hole retinal detachment (MHRD). Nine experienced vitreoretinal surgeons from Taiwan participated in questionnaire for surgical management of FTMH and MHRD based on Delphi methodology. Among the 49 items, 30 items (61.

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Purpose: To evaluate long-term outcomes for polypoidal choroidal vasculopathy (PCV) in Japanese patients in the EVEREST II study.

Study Design: A multicenter, cross-sectional study of the long-term outcomes of a cohort of patients originally treated with ranibizumab alone (monotherapy group) or in combination with photodynamic therapy PDT (combination group) in the EVEREST II study (ClinicalTrials.gov identifier, NCT01846273).

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Introduction: To evaluate the progression rate and identify potential genetic risk factors for poor visual outcome in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy.

Methods: Ocular variables, including best-corrected visual acuity (BCVA), hypoautofluorescent area in fundus autofluorescence (FAF) and others were analyzed in patients with a diagnosis of CQ/HCQ retinopathy based on comprehensive ocular and demographic examinations. Whole exome sequencing (WES) was used to investigate the candidate genes associated with inherited retinal diseases.

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Purpose: To develop a vitrectomy-based consensus on the definition, diagnosis, and management of myopic traction maculopathy (MTM).

Methods: Relevant literature was initially reviewed. Six key questions and six consensus statements were developed based on reference articles.

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Purpose: Retinal detachment (RD) is a vision-threatening condition that manifests silently before abrupt disease onset; thus, most of the RD at-risk individuals are left unchecked until the first RD attack.

Methods: To establish an RD risk-informing system for a broader population, we utilized carotid ultrasonography (CUS) biometrics, RD polygenic risk score (PRSRD), and clinical covariates (COVs) to assess RD risk predisposition factors. First, a backpropagation logistic regression model identified RD-associated CUS biomarkers and further incorporated them as a multivariable RD-risk nomogram.

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Eye fundus diseases, such as retinal degenerative diseases, which lead to blindness in ≈12% of individuals aged >65 years, cause permanent damage to retinal cells. The antioxidant quercetin (QC) is promising for the effective treatment of eye fundus diseases; however, its poor solubility and low retention rate often limit its clinical application. Herein, an in situ ophthalmic tethered gold yarnball (GY) that doubles as an ocular retention agent and QC reservoir to overcome low fundus drug retention is developed.

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Multi-modal large language models (MLLMs) have transformed the landscape of modern healthcare, with automated radiology report generation (RRG) emerging as a cutting-edge application. While 2D MLLM-based RRG has been well established, its utility for 3D medical images remains largely unexplored. In this regard, we curate the 3D-BrainCT dataset (18,885 text-scan pairs) and develop BrainGPT, a clinically visual instruction-tuned (CVIT) model designed for 3D CT RRG.

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A panel of 21 international experts are formed by the Asia-Pacific Vitreo-retina Society to work out the consensus and guidelines on polypoidal choroidal vasculopathy (PCV). PCV is a common subtype of neovascular age-related macular degeneration and is more prevalent in Asian populations. Recent advancement in imaging technology allows greater understanding of the disease process of PCV.

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Background: Noninfectious anterior uveitis shares genetic factors, including HLA-B27, with ankylosing spondylitis (AS). The aim of this study was to identify significant single nucleotide polymorphisms (SNPs) associated with noninfectious anterior uveitis in AS patients, which may help predict help predict the risk of developing this condition and provide deeper insights into its genetic basis.

Methods: A genome-wide association study (GWAS) was conducted using the genomic data of 468 AS patients, including 90 with noninfectious anterior uveitis and 378 without it, from the Taiwan Precision Medicine Initiative.

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Backgrounds/aims: Central retinal artery occlusion (CRAO) is a vision-devastating emergency. However, widely-acknowledged treatment consensus is lacking and prehospital delays commonly occur. Hence, we aimed to investigate the visual outcomes of conservative treatments (CT), local intra-arterial fibrinolysis (LIF) and hyperbaric oxygen (HBO) therapy for non-arteritic CRAO (NA-CRAO) patients beyond the conventional time window.

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This study investigates the occurrence of multiple parafoveal retinal detachments (RDs) in myopic traction maculopathy (MTM), emphasizing the atypical extrafoveal involvement compared to central foveal detachment commonly observed. Patient 1, a 46-year-old male, exhibited MTM with retinoschisis and four small subretinal fluid (SRF) pockets inferior to the fovea, accompanied by a hyperautofluorescent vitelliform deposit. Patient 2, a 43-year-old male, reported ring-shaped dim vision in the left eye, displaying MTM with six stable SRF pockets surrounding the fovea.

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Background: Induced pluripotent stem cell (iPSC) technology has emerged as a powerful tool for disease modeling, providing an innovative platform for investigating disease mechanisms. iPSC-derived organoids, including retinal organoids, offer patient-specific models that closely replicate in vivo cellular environments, making them ideal for studying retinal neurodegenerative diseases where retinal ganglion cells (RGCs) are impacted. N6-methyladenosine (m6A), a prevalent internal modification in eukaryotic mRNAs, plays a critical role in RNA metabolic processes such as splicing, stability, translation, and transport.

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X-linked retinoschisis (XLRS) is an inherited retinal disorder with severe retinoschisis and visual impairments. Multiomics approaches integrate single-cell RNA-sequencing (scRNA-seq) and spatiotemporal transcriptomics (ST) offering potential for dissecting transcriptional networks and revealing cell-cell interactions involved in biomolecular pathomechanisms. Herein, a multimodal approach is demonstrated combining high-throughput scRNA-seq and ST to elucidate XLRS-specific transcriptomic signatures in two XLRS-like models with retinal splitting phenotypes, including genetically engineered (Rs1) mice and patient-derived retinal organoids harboring the same patient-specific p.

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Introduction: This study aimed to investigate the impact of aflibercept and dexamethasone (DEX) on the formation of epiretinal membrane (ERM) and their treatment outcomes in eyes with diabetic macular edema (DME).

Methods: In this retrospective cohort study, medical records of 124 eyes from 429 patients diagnosed with DME were reviewed between June 2017 and June 2019. Patients were categorized into two groups: the aflibercept group (67 eyes) and the DEX group (57 eyes).

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Introduction: Anti-vascular endothelial growth factor (VEGF) treatment stands as the primary approach for neovascular age-related macular degeneration (nAMD). Faricimab has recently emerged as a novel anti-VEGF option for nAMD. This study aimed to assess the efficacy of faricimab in patients with refractory nAMD.

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The blood supply in the retina ensures photoreceptor function and maintains regular vision. Leber's hereditary optic neuropathy (LHON), caused by the mitochondrial DNA mutations that deteriorate complex I activity, is characterized by progressive vision loss. Although some reports indicated retinal vasculature abnormalities as one of the comorbidities in LHON, the paracrine influence of LHON-affected retinal ganglion cells (RGCs) on vascular endothelial cell physiology remains unclear.

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Purpose: The purpose of this study was to conduct a large-scale genome-wide association study (GWAS) and construct a polygenic risk score (PRS) for risk stratification in patients with dry eye disease (DED) using the Taiwan Biobank (TWB) databases.

Methods: This retrospective case-control study involved 40,112 subjects of Han Chinese ancestry, sourced from the publicly available TWB. Cases were patients with DED (n = 14,185), and controls were individuals without DED (n = 25,927).

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Article Synopsis
  • The study investigated the effectiveness and safety of brolucizumab for treating difficult cases of neovascular age-related macular degeneration (nAMD) in Taiwan, focusing on a real-world patient group.
  • Patients were monitored for three months after starting brolucizumab, with key outcomes including changes in visual acuity and retinal thickness, along with tracking any side effects like intraocular inflammation.
  • Results showed significant improvements in retinal thickness and fluid resolution, and about half of the patients experienced noticeable visual gains, indicating that brolucizumab can be a promising treatment option for this condition.
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Objectives: To unveil the candidate susceptibility genes in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy using whole exome sequencing (WES) and genome-wide association study (GWAS).

Methods: Patients with a diagnosis of CQ/HCQ retinopathy based on the comprehensive demographic and ocular examination were included. The peripheral blood was extracted for WES and GWAS analyses.

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Introduction: The clinical presentations of dry eye disease (DED) and depression (DEP) often comanifest. However, the robustness and the mechanisms underlying this association were undetermined.

Objectives: To this end, we set up a three-segment study that employed multimodality results (meta-analysis, genome-wide association study [GWAS] and Mendelian randomization [MR]) to elucidate the association, common pathways and causality between DED and DEP.

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Purpose: To evaluate 2-year efficacy, durability, and safety of the bispecific antibody faricimab, which inhibits both angiopoietin-2 and VEGF-A.

Design: TENAYA (ClinicalTrials.gov identifier, NCT03823287) and LUCERNE (ClinicalTrials.

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Introduction: The EVEREST II study previously reported that intravitreally administered ranibizumab (IVR) combined with photodynamic therapy (PDT) achieved superior visual gain and polypoidal lesion closure compared to IVR alone in patients with polypoidal choroidal vasculopathy (PCV). This follow-up study reports the long-term outcomes 6 years after initiation of the EVEREST II study.

Methods: This is a non-interventional cohort study of 90 patients with PCV from 16 international trial sites who originally completed the EVEREST II study.

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Article Synopsis
  • * We found that 68.5% of patients received genetic diagnoses, with retinitis pigmentosa being the most commonly suspected condition, and discovered several common genetic variants linked to these disorders.
  • * Additionally, we identified 87 unique genetic variants not previously reported in relation to IRD, which helped refine the clinical diagnoses for some patients, demonstrating our customized gene panel's effectiveness across diverse IRD phenotypes.
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