A5082724304- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Corneal surgery and disorders
- Ocular Disorders and Treatments
- Ophthalmology and Visual Impairment Studies
- Retinopathy of Prematurity Studies
- Genomic variations and chromosomal abnormalities
- Advanced biosensing and bioanalysis techniques
- Retinal Imaging and Analysis
- Cerebrovascular and genetic disorders
- Mitochondrial Function and Pathology
- Connexins and lens biology
- Corneal Surgery and Treatments
- Chromosomal and Genetic Variations
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Photoreceptor and optogenetics research
- Hedgehog Signaling Pathway Studies
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Retinal and Optic Conditions
- Ocular Infections and Treatments
- Intraocular Surgery and Lenses
- Ocular Surface and Contact Lens
Ningxia Medical University
2008-2024
Ningxia Hui Autonomous Region Peoples Hospital
2013-2023
The Fourth People's Hospital of Ningxia Hui Autonomous Region
2012-2023
Northwest Minzu University
2016-2022
Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6–U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded PRPF4, regulates stability U4/U6 di-snRNP, which is essential for continuous splicing. Here, we identified two heterozygous variants including c.-114_-97del simplex patient and...
PHARC syndrome, a rare autosomal recessive neurodegenerative disorder caused by mutations in the ABHD12 gene, is characterized demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa (RP), and early-onset cataracts. If patients are first diagnosed ophthalmology department, they easily misdiagnosed as having RP or Usher syndrome. This study aimed to identify genetic etiology determine clinical diagnosis of Chinese family with suspected Comprehensive ophthalmic examinations...
To understand the prevalence and demographic characteristics of infectious keratitis corneal blindness.A multi-center, population-based cross-sectional study was conducted from January 1 to August 31, 2010. A total 191,242 individuals all age groups 10 geographically representative provinces were sampled using stratified, multi-stage, random systematic sampling procedures. majority, 168,673 (88.2%), those participated in study. The examination protocol included a structured interview, visual...
Hereditary retinal dystrophies (HRDs) are a group of monogenic diseases characterized by an irreversible loss photoreceptors. HRDs exhibit significant genetic and clinical heterogeneities challenging traditional techniques for determining disease-causal mutations. This study aims to develop efficient molecular diagnostic platform HRDs, determine the basis 25 randomly collected Chinese families with variety HRDs.We designed high throughput sequence capture microarray targeting 179 genes...
<title>Abstract</title> Early-onset high myopia (eoHM) occurs before school age and is an ideal model for monogenic studies of due to minimal environmental influence. This study screened genes variants associated with eoHM in 47 unrelated Chinese patients eoHM. Protein-protein interaction (PPI) network analysis was conducted detect interactions among candidate genes, protein-protein docking performed. In 28 (28/47, 59.6%), 32 potential pathogenic 22 were identified, including 24 novel...
Early-onset high myopia (eoHM) occurs before school age and is an ideal model for monogenic studies of due to minimal environmental influence. This study screened genes variants associated with eoHM in 47 unrelated Chinese patients eoHM. Protein-protein interaction (PPI) network analysis was conducted detect interactions among candidate genes, protein-protein docking performed. In 28 (28/47, 59.6%), 32 potential pathogenic 22 were identified, including 24 novel variants. Among these...
To assess the incidence, cause and risk factors for unplanned readmission within 90 days after deep anterior lamellar keratoplasty (DALK). A multicentre cross-sectional study of 3603 eyes 3588 patients between January 1st, 2019, September 30th, 2021 in 16 hospitals across China was performed. The demographic clinical features DALK with 90-day those who did not have been compared. were identified by a multivariable Cox regression model. Among 873 (878 eyes) DALK, primary indications keratitis...
<h3>Background</h3> Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite dozen of genes involved in having been identified, the genetic basis remains unknown 20–30% patients. In this study, we aimed to identify novel disease-causing gene distinct subtype syndrome. <h3>Methods</h3> Ophthalmic examinations tests were performed on patients with two consanguineous families. Target capture sequencing was initially screen causative...
Abstract Leber congenital amaurosis (LCA) is a hereditary early-onset retinal dystrophy that accompanied by severe macular degeneration. In this study, novel compound heterozygous mutations were identified as LCA-causative in chaperonin-containing TCP-1, subunit 2 (CCT2 ), gene encodes the molecular chaperone protein, CCTβ. The zebrafish mutants of CCTβ are known to exhibit eye phenotype while its mutation and association with human disease have been unknown. CCT proteins (CCT α-θ) forms...
Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected autosomal recessive USH for detailed clinical evaluations mutation screening in the genes associated inherited retinal diseases. Using targeted next-generation sequencing (NGS) approach, new alleles one known MYO7A gene were identified families. In two type 1, novel homozygous...
USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and deafness. The complex genetic phenotypic spectrums relevant to defects make it difficult manage patients with such mutations. In present study, we aim determine characterize correlated clinical phenotypes for three Chinese pedigrees RP, one RP sine pigmento (RPSP), USH2. Family histories details all included were...
EYS mutations demonstrate great genotypic and phenotypic varieties are one of the major causes for patients with autosomal recessive retinitis pigmentosa (ARRP). Here, we aim to determine genetic lesions correlations in two Chinese families ARRP. Medical histories ophthalmic documentations were obtained from all participants pedigrees. Targeted next-generation sequencing (NGS) on 189 genes was performed screen RP causative families. Two biallelic EYS, p.[R164*];[C2139Y] p.[W2640*];[F2954S],...
The aim of this study was to investigate the genetic basis and pathogenic mechanism variable maculopathies, ranging from mild photoreceptor degeneration central areolar choroidal dystrophy, in a five-generation family.Clinical characterizations, whole-exome sequencing, genome-wide linkage analysis were carried out on family. Zebrafish models used pathogenesis GUCA1A mutations.A novel mutation, p.R120L, identified family predicted alter tertiary structure guanylyl cyclase-activating protein...
Inherited optic neuropathies are rare eye diseases of nerve dysfunction that present in various genetic forms. Previously, mutation three genes encoding mitochondrial proteins has been implicated autosomal recessive forms atrophy involve progressive degeneration and retinal ganglion cells (RGC). Using whole exome analysis, a novel double homozygous p.L81R pR212W malonyl CoA-acyl carrier protein transacylase (MCAT), involved fatty acid biosynthesis, now identified as responsible for an...
Cone-rod dystrophy (CRD) is a genetically inherited retinal disease that can be associated with male infertility, while the specific genetic mechanisms are not well known. Here, we report CEP78 as causative gene of particular syndrome including CRD and infertility multiple morphological abnormalities sperm flagella (MMAF) both in human mouse. Cep78 knockout mice exhibited impaired function morphology photoreceptors, typified by reduced ERG amplitudes, disrupted translocation cone arrestin,...
IMPORTANCE Inherited retinal dystrophies (IRDs) are a group of degenerative diseases presenting genetic and clinical heterogeneities, which have challenged the diagnoses IRDs.Genetic evaluations patients with IRD might result in better assessments management patients.OBJECTIVE To determine lesions phenotypic correlations diverse autosomal recessive using next-generation sequencing. DESIGN, SETTING, AND PARTICIPANTSA cohort 20 Chinese families affected were recruited (with data on their...
To assess the visual outcomes and possible risk factors associated with axis alignment rotational stability after implantation of Toric implantable collamer lens (TICL) for correction high myopic astigmatism.In this prospective, nonrandomized clinical study, 54 consecutive eyes 29 patients astigmatism received TICL implantation. evaluate postoperative deviation from intended axis, a digital anterior segment photograph was taken. The ultrasound biomicroscopy(UBM) used to observe...