Vision, one of our major senses, is considered the largest contributor to perception of the world around us ( Pike, 2012). Finally, we discuss outstanding gaps in our knowledge of the role of CHD7 in eye formation, and propose avenues of investigation to further our understanding of how CHD7 activity regulates ocular and retinal development. In addition, we discuss the current knowledge of CHD7 function and focus on its contributions to the development of ocular structures. This is followed by a comprehensive description of CHARGE syndrome, including discussion of the spectrum of ocular defects that have been described in this disorder. In this review, we provide a general overview of ocular development and congenital disorders affecting the eye. However, the pathogenetic mechanisms that connect loss of CHD7 to the ocular complications observed in CHARGE syndrome have not been identified. Mutations in the gene encoding Chromodomain helicase DNA binding protein 7 (CHD7) cause the majority of CHARGE syndrome cases. One important example is CHARGE syndrome, a genetic disorder characterized by coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. MAC and retinal degeneration are also observed in systemic congenital malformation syndromes. Disruptions in this process are associated with structural birth defects such as microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC), and inherited retinal degenerative diseases such as retinitis pigmentosa and allied dystrophies. The development of the vertebrate visual system involves complex morphogenetic interactions of cells derived from multiple embryonic lineages. Department of Biology, University of Kentucky, Lexington, KY, United States.
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