دانلود کتاب ژنتیک بیماری های چشمی

Retinitis pigmentosa (RP) is the most prevalent among the group of rare inherited retinal degenerative diseases (IRDs) leading to vision loss. RP is characterized by night blindness in the initial stages followed by progressive gradual decrease and loss of peripheral vision. The worldwide prevalence of RP is 1:4000 that varies in different geographic location. RP can be inherited as an autosomal dominant (adRP), autosomal recessive (arRP), X-linked (XLRP) or simplex trait; clinically present as isolated condition or syndromic (Bardet–Biedl syndrome, Alstrom syndrome, Ushers syndrome, Senior Loken syndrome, and Jouberts syndrome) with extra ocular abnormalities and partially overlapping genetic/clinical features. Inter and intra familial phenotypic variability, different mutation spectrum in RP explain the genetic heterogeneity in the disease. The overlapping genetic architecture and clinical heterogeneity pose challenge in diagnosis and molecular confirmation and differential diagnosis of the disease. In this book chapter, the current trends in molecular diagnosis of RP using next generation technologies like targeted panel, whole exome and genome sequencing. The implication of genetic diagnosis in checking the eligibility for treatment, future gene therapy trials, pre-implantation genetic diagnosis and thereby management. The other potential treatment strategies applicable in RP patients like optogenetics and cell based therapy that are under clinical trials.