Developmental Eye Defects

  • 文章类型: Journal Article
    葡萄膜结肠瘤是一种由眼部组织缺失定义的疾病,是儿童失明的重要原因。它是由于胚胎发育过程中视神经裂隙无法闭合而发生的,并可能导致虹膜缺失部分,睫状体,视网膜,脉络膜,和视神经.因为没有治疗结肠瘤的方法,努力集中在预防上。虽然已经确定了结肠瘤的几种遗传原因,关于这种情况的环境原因几乎没有明确的研究。我们回顾了与结肠瘤相关的环境因素的最新文献,以指导与这种情况有关的未来研究和预防性咨询。
    Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body, retina, choroid, and optic nerve. Because there is no treatment for coloboma, efforts have focused on prevention. While several genetic causes of coloboma have been identified, little definitive research exists regarding the environmental causes of this condition. We review the current literature on environmental factors associated with coloboma in an effort to guide future research and preventative counseling related to this condition.
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  • 文章类型: Journal Article
    Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent a continuum of structural developmental eye defects. In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common. The genetic cause of other forms of MAC, in particular isolated coloboma, remains unknown in the majority of cases. This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1. Recently reported mutation of the SALL2 and YAP1 genes are discussed in brief. Clinical and genetic features were reviewed in a total of 283 unrelated MAC cases or families that were mutation-positive from these 20 genes. Both the relative frequency of mutations in MAC cohort screens and the level of confidence in the assignment of disease-causing status were evaluated for each gene.
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