Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the enormous genetic heterogeneity of diverse retinal dystrophies, including RP. To identify disease-causing mutations in unselected, consecutive RP patients, we conducted Sanger sequencing of genes commonly involved in the suspected genetic RP subtype, followed by targeted large-panel NGS if no mutation was identified, or NGS as primary analysis. A h

Retinal degenerative diseases include inherited pathologies such as retinitis pigmentosa (RP) and multifactorial diseases such as age-related macular degeneration (AMD). AMD, a leading cause of blindness in the Western world, typically causes visual distortion and loss of central vision. In those affected, RP causes early-onset loss of night vision, followed by loss of peripheral vision and ultimately blindness. Due to the need for more effective treatments with the eventual goal of preventing blindness, researchers are investigating new potential targets and technologies to address these dise

none declared.Authors are from reference documentation to archive at Organization of Federation of blind and visually impaired in central Serbia (Kragujevac), by retrograde analysis, of 2007-2012, comprehend two groups by etiology-clinical characteristics of congenital blindness and visually impaired, caused infection or non infection example.to analyze relationship between infectious and non infectious of congenital blindness and visually impaired in our referent region and compare with world references.With 6-years analysis included the most frequency cases of congenital blindness and visually impaired in two groups, according to presence or absence infectious causes. From infectious causes of congenital blindness and visually impaired are included: CMV - infection, congenital rubella syndrome, congenital toxoplasmosis, congenital syphilis and rare mixed syndrome. From non infectious causes are included: retinitis pigmentosa, retinopathy prematurity, primary congenital glaucoma, Leber's congenital amaurosis and rare syndrome.From total number of registered blind and visually impaired - 1308 (100%), over the last 6 years, the registration was 349 (26.68%) with congenital blindness and visually impaired. From recorder with the number of the most common congenital blindness and visually impaired-194 (55.59%) with infections cause, and 155 (44.41%) non infection cause.Congenital blindness has shown permanent increase in past 6 years, in group with infectious and with non infect