作者: Daniel C. Garibaldi , Zhenglin Yang , Yang Li , Zhengya Yu , Kang Zhang
DOI: 10.1007/978-1-4615-1355-1_21
关键词: Positional cloning 、 Biology 、 Pathogenesis 、 Macular dystrophy 、 Genetics 、 Retinal Dystrophies 、 Retinitis pigmentosa 、 Candidate gene 、 Retinal degeneration 、 Fatty acid elongation
摘要: Retinal dystrophies are a heterogeneous group of ocular disorders that result in varying degrees progressive peripheral or central visual loss.1 Though these have traditionally been distinguished by their histopathology, ophthalmoscopic findings, and associated physiologic deficits, advances genetics molecular biology permitted researchers to elucidate the genetic determinants clinical histopathological changes. Techniques such as linkage analysis, positional cloning, candidate gene approach utilized associate genomic loci specific mutations with known disease phenotypes.