Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies
1998; Elsevier BV; Volume: 14; Issue: 3 Linguagem: Inglês
10.1016/s0168-9525(98)01402-4
ISSN1362-4555
AutoresKevin Gregory-Evans, Shomi S. Bhattacharya,
Tópico(s)Retinal and Optic Conditions
ResumoOuter retinal dystrophies are the major causes of incurable blindness in the Western world. Understanding the etiology of retinal dystrophies has improved remarkably over the past decade. A number of genes, such as RHO, PDE-beta, RDS, TIMP3, MYO7A, RETGC1, RPGR, CRX and ABCR, are now known to be particularly important. Characterization of the genetic basis for disease is leading to new concepts of pathogenesis at the molecular and cellular levels. Such detailed understanding of disease processes is also stimulating a renewed interest in therapeutic strategies.
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