Molecular Genetics of Blindness

摘要: Publisher Summary This chapter discusses molecular genetics of blindness. Although enormous progress has been made through the application techniques to understanding biological processes, a detailed development in complex structures remained challenge. In progressing toward this goal, eye and retina, particular, represent suitable targets for coordinated approaches combining fields electrophysiology, anatomy, developmental biology, genetics. Their suitability as model systems investigation is strengthened by availability wide range disorders affecting maintenance vision. The characterization several ocular proteins led cloning autosomal genes involved retinal disorders, while positional approach successful particularly isolation X-linked genes. Norrie's gene can be seen paradigm context. disorder, disorganization retinosensory cells leads congenital blindness result defects norrin, which mucin-like molecule that may an essential element development. Linkage analysis mutational screening have substantial contributions unraveling heterogeneous such retinitis pigmentosa macular dystrophy.