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Congenital cataracts are one of the leading causes of visual impairment and blindness in children, and genetic factors play an important role in their development. This study aimed to identify the genetic defects associated with autosomal dominant congenital progressive punctate cataracts in a Chinese family and to explore the potential pathogenesis.(More)
PURPOSE To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts. METHODS A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examination. Genomic DNA extracted from peripheral blood was(More)
The purpose of this study was to evaluate the refractive errors and the demographic associations between drinking water with excessive fluoride and normal drinking water among residents in Northern China. Of the 1843 residents, 1415 (aged ≥40 years) were divided into drinking-water-excessive fluoride (DWEF) group (>1.20 mg/L) and control group (≤1.20 mg/L)(More)
PURPOSE The purpose of this study was to identify the mutation(s) or deletion(s) of the forkhead box protein L2 (FOXL2) gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS Genomic DNA extracted from peripheral blood was collected from two Chinese families and from one sporadic case. PCR direct sequencing and(More)
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