Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene.

Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation.

Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.

X-linked retinoschisis (XLRS) is a common retinal genetic disease that occurs in juvenile males and causes progressive visual impairment. This presents a schisis in the macula or peripheral retina of bilateral eyes, which has no effective treatment. Here, we introduced the RS1 (c.

Risk Factors for Focal Choroidal Excavation Concurrent with Chorioretinal Disease: Evaluated by Spectral-Domain OCT.

Purpose: To investigate the risk factors for patients with focal choroidal excavation (FCE) and their correlation with chorioretinal diseases.

Design: Retrospective cross-sectional study.

Subjects: Patients with FCE were enrolled, while healthy subjects were recruited for the control group.

Development of an injectable oxidized dextran/gelatin hydrogel capable of promoting the healing of alkali burn-associated corneal wounds.

The cornea serves as an essential shield that protects the underlying eye from external conditions, yet it remains highly vulnerable to injuries that could lead to blindness and scarring if not promptly and effectively treated. Excessive inflammatory response constitute the primary cause of pathological corneal injury. This study aimed to develop effective approaches for enabling the functional repair of corneal injuries by combining nanoparticles loaded with anti-inflammatory agents and an injectable oxidized dextran/gelatin/borax hydrogel.

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.

Background: X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood. Besides, animal models of XLRS have limitations in the study of XLRS.

Gut microbiota induced abnormal amino acids and their correlation with diabetic retinopathy.

Aim: To explore the correlation of gut microbiota and the metabolites with the progression of diabetic retinopathy (DR) and provide a novel strategy to elucidate the pathological mechanism of DR.

Methods: The fecal samples from 32 type 2 diabetes patients with proliferative retinopathy (PDR), 23 with non-proliferative retinopathy (NPDR), 27 without retinopathy (DM), and 29 from the sex-, age- and BMI- matched healthy controls (29 HC) were analyzed by 16S rDNA gene sequencing. Sixty fecal samples from PDR, DM, and HC groups were assayed by untargeted metabolomics.

Global trends in diabetic eye disease research from 2012 to 2021.

JOURNAL/nrgr/04.03/01300535-202410000-00032/figure1/v/2024-02-06T055622Z/r/image-tiff Diabetic eye disease refers to a group of eye complications that occur in diabetic patients and include diabetic retinopathy, diabetic macular edema, diabetic cataracts, and diabetic glaucoma. However, the global epidemiology of these conditions has not been well characterized.

Lycium barbarum glycopeptide (wolfberry extract) slows N-methyl-N-nitrosourea-induced degradation of photoreceptors.

JOURNAL/nrgr/04.03/01300535-202410000-00030/figure1/v/2024-02-06T055622Z/r/image-tiff Photoreceptor cell degeneration leads to blindness, for which there is currently no effective treatment. Our previous studies have shown that Lycium barbarum (L.

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration and impose a considerable economic burden on patients and society, making efforts to cure blindness imperative. Transgenic animals mimicking human genetic diseases have long been used as a primary research tool to decipher the underlying pathogenesis, but there are still some obvious limitations. As an alternative strategy, patient-derived induced pluripotent stem cells (iPSCs), particularly three-dimensional (3D) organoid technology, are considered a promising platform for modeling different forms of IRDs, including retinitis pigmentosa, Leber congenital amaurosis, X-linked recessive retinoschisis, Batten disease, achromatopsia, and best vitelliform macular dystrophy.

Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.

X-linked retinoschisis (XLRS) is one of the most common retinal genetic diseases with progressive visual impairment in childhood affecting males. It is manifested with macular and/or peripheral schisis in neural retinas with no effective treatment. Previously, we successfully generated a human-induced pluripotent stem cell (iPSC) line from an XLRS patient carrying the hemizygous RS1 c.

Sodium butyrate ameliorates diabetic retinopathy in mice via the regulation of gut microbiota and related short-chain fatty acids.

Background: Diabetic retinopathy (DR) development is associated with disturbances in the gut microbiota and related metabolites. Butyric acid is one of the short-chain fatty acids (SCFAs), which has been found to possess a potential antidiabetic effect. However, whether butyrate has a role in DR remains elusive.

Investigating the Function of MicroRNAs in Human Retinal Microvascular Endothelial Cells of Diabetic Retinopathy.

Diabetic retinopathy (DR) is the main complication of diabetes mellitus (DM). Recent studies have implicated microRNAs dysfunction in human retinal microvascular endothelial cell (HRMEC). In this study, we aim to investigate the apoptotic promotion of miR-29b-3p by blocking SIRT1 in HRMEC for DR situation.

Chromatin Immunoprecipitation Assay in Mouse Retinal Tissue.

Chromatin immunoprecipitation (ChIP) is one of the most widely used methods for investigating interactions between proteins and DNA sequences. ChIP plays an important role in the transcriptional regulation study, which can locate the target genes of transcription factors and cofactors or monitor the sequence-specific genomic regions of histone modification. To analyze the interaction between transcription factors and several candidate genes, ChIP coupled with quantitative PCR (ChIP-PCR) assay is a basic tool.

Methods for RPE Sheet Construction Using iPS-CM in Conjunction with Natural Scaffold of Corneal Lenticule Derived from SMILE.

In vitro generation of a functional retinal pigment epithelium (RPE) monolayer sheet is useful and promising for RPE cell therapy. Here, we outline a method to construct engineered RPE sheets treated by induced pluripotent stem cell-conditioned medium (iPS-CM) in conjunction with femtosecond laser intrastromal lenticule (FLI-lenticule) scaffold to aid in enhanced RPE characteristics and cilium assembly. Such a strategy to construct RPE sheets is a promising avenue for developing RPE cell therapy, disease models, and drug screening tools.

Methods for Analyzing the Gut Microbiota in Diabetic Retinopathy.

The gut microbiome that inhabits human hosts plays an important role in the development of a healthy host immune system. Many studies have shown that gut microbiota is involved in the occurrence and development of diabetic retinopathy (DR). With the advent of sequencing technology of the bacterial 16S ribosomal RNA (rRNA) gene, microbiota studies are becoming more feasible.

Chinese Guideline on the Management of Polypoidal Choroidal Vasculopathy (2022).

Background In mainland China, patients with neovascular age-related macular degeneration (nAMD) have approximately an 40% prevalence of polypoidal choroidal vasculopathy (PCV). This disease leads to recurrent retinal pigment epithelium detachment (PED), extensive subretinal or vitreous hemorrhages, and severe vision loss. China has introduced various treatment modalities in the past years and gained comprehensive experience in treating PCV.

One-stop assembly of adherent 3D retinal organoids from hiPSCs based on 3D-printed derived PDMS microwell platform.

The three-dimensional (3D) retinal organoids (ROs) derived from human induced pluripotent stem cells (hiPSCs), mimicking the growth and development of the human retina, is a promising model for investigating inherited retinal diseases. However, the efficient generation of homogenous ROs remains a challenge. Here we introduce a novel polydimethylsiloxane (PDMS) microwell platform containing 62 V-bottom micro-cavities for the ROs differentiation from hiPSCs.

Microneedles for tissue regeneration.

Tissue injury is a common clinical problem, which may cause great burden on patients' life. It is important to develop functional scaffolds to promote tissue repair and regeneration. Due to their unique composition and structure, microneedles have attracted extensive attention in various tissues regeneration, including skin wound, corneal injury, myocardial infarction, endometrial injury, and spinal cord injury et al.

Identifying spatiotemporal information of the point pollutant source indoors based on the adjoint-regularization method.

Fast and accurate identification of the pollutant source location and release rate is important for improving indoor air quality. From the perspective of public health, identification of the airborne pathogen source in public buildings is particularly important for ensuring people's safety and health. The existing adjoint probability method has difficulty in distinguishing the temporal source, and the optimization algorithm can only analyze a few potential sources in space.

Retinal organoids and microfluidic chip-based approaches to explore the retinitis pigmentosa with USH2A mutations.

Retinitis pigmentosa (RP) is a leading cause of vision impairment and blindness worldwide, with limited medical treatment options. USH2A mutations are one of the most common causes of non-syndromic RP. In this study, we developed retinal organoids (ROs) and retinal pigment epithelium (RPE) cells from induced pluripotent stem cells (iPSCs) of RP patient to establish a sustainable RP disease model.

Hyperosmolar Potassium Inhibits Corneal Myofibroblast Transformation and Prevent Corneal Scar.

Purpose: Corneal myofibroblasts play a crucial role in the process of corneal scarring. Potassium has been documented to reduce skin scar tissue formation. Herein, we investigated the ability of potassium to prevent corneal fibrosis in cell culture and .

Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene.

Retinitis pigmentosa (RP) is one of the most common inherited retinal diseases characterized by nyctalopia, progressive vision loss and visual field contraction. we previously generated an induced pluripotent stem cell line (CSUASOi004-A) from a RP patient with heterozygous PRPF6 c.2699 G>A (p.

Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation.

Pre-mRNA processing factors (PRPFs) are vital components of the spliceosome and are involved in the physiological process necessary for pre-mRNA splicing to mature mRNA. As an important member, mutation resulting in autosomal dominant retinitis pigmentosa (adRP) is not common. Recently, we reported the establishment of an induced pluripotent stem cells (iPSCs; CSUASOi004-A) model by reprogramming the peripheral blood mononuclear cells of a -related adRP patient, which could recapitulate a consistent disease-specific genotype.