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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
  • Hui Wang, Xia Wang, +8 authors R. Sui
  • Biology, Medicine
    Investigative ophthalmology & visual science
  • 1 June 2015
The mutation spectrum in the Chinese population is distinct compared to that in the European population, and the importance of a molecular diagnosis as an integral part of the clinical diagnostic process is highlighted.
Amelioration of diabetic retinopathy by engrafted human adipose-derived mesenchymal stem cells in streptozotocin diabetic rats
The results of the current study suggest that AMSCs may improve the integrity of the BRB in diabetic rats by differentiation into photoreceptor and glial-like cells in the retina and by reducing the blood glucose levels.
Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
In a Han Chinese population, CFH and HTRA1 polymorphisms appear to be independently and possibly additively hereditary contributors to exudative AMD.
Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.
A Chinese family with TTR Ala36Pro associated FTA is characterized by early ocular involvement, associated with increased VEGF levels, both in serum and vitreous, and the genetic defect in this family is identified.
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients
The studies extended the mutation spectrum ofPRPF31, and mutations in PRPF31 were found at a relatively high frequency (10%, 4 of 40 adRP families) in the authors' cohort.
De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients
Two de novo mutations in CRX were found in Chinese patients with LCA, suggesting that the CRX mutation might create a dominantly inherited trait.
Choroidal Folds in Acute Vogt-Koyanagi-Harada Disease
CFs are probably a sign of severe choroidal inflammation and associated with corticosteroid resistance and/or dependence, which indicates IMT, and more received immunomodulatory therapy (IMT) than those without CFs.
Spectral domain optical coherence tomography of Vogt-Koyanagi-Harada disease: novel findings and new insights into the pathogenesis.
Intraretinal cysts could form in various layers of the outer retina and may result from extension of choroidal inflammation and Subretinal fibrosis may develop from subretinal exudates in VKH patients and may cause substantial visual impairment.
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
The RPE65 mutation is a rare cause of LCA in the Chinese population and Compound heterozygous missense mutations Leu67Arg and Tyr368Cys are related to a relatively mild LCA phenotype.
Differentiation of mesenchymal stem cell in the microenviroment of retinitis pigmentosa.
MSC can survive mainly in the outer layer of retina in the microenvironment of retinal degeneration and differentiate forward the RPE cell and photoreceptor and survive in retinal pigment epithelium layer and cones & rods layer.