AIM:To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract. METHODS:A two-generation family was recruited in this study. Family history and clinical data were record...AIM:To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract. METHODS:A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing. ·RESULTS:All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C 】T variation in EPHA2 gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls. ·CONCLUSION:We report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine kinase gene. The finding expands the mutation spectrum of EPHA2 in association with posterior cataract.展开更多
Although cataract surgery in posterior polar cataract is associated with posterior capsular rent and nucleus drop, by taking precautions the rate of complication can be decreased. The aim of this article is to review ...Although cataract surgery in posterior polar cataract is associated with posterior capsular rent and nucleus drop, by taking precautions the rate of complication can be decreased. The aim of this article is to review the etiology, pathogenesis, clinical features, and management of posterior polar cataract.展开更多
基金Science and Technology Program of Zhejiang University, China (No. 2011FZA70130)Medical Science and Technology Project of Zhejiang Province, China(No. 2010QNA012)+1 种基金Zhejiang Key Innovation Team Project of China (No. 2009R50039)Zhejiang Key Laboratory Found of China (No. 2011E10006)
文摘AIM:To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract. METHODS:A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing. ·RESULTS:All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C 】T variation in EPHA2 gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls. ·CONCLUSION:We report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine kinase gene. The finding expands the mutation spectrum of EPHA2 in association with posterior cataract.
文摘Although cataract surgery in posterior polar cataract is associated with posterior capsular rent and nucleus drop, by taking precautions the rate of complication can be decreased. The aim of this article is to review the etiology, pathogenesis, clinical features, and management of posterior polar cataract.
