Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

ABSTRACT: Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and to blindness. It is caused by mutations in several distinct genes, including the ciliary gene FAM161A, which is associated with a recessive form of this disorder. Recent investigations have revealed that defects in FAM161A represent a rather prevalent cause of hereditary blindness in Israel and the Palestinian territories, whereas they seem to be rarely present within patients from Germany. Genetic or clinical data are currently not available for other countries. In this work, we screened a cohort of patients with recessive RP from North America to determine the frequency of FAM161A mutations in this ethnically-mixed population and to assess the phenotype of posit

SUBMITTER: Venturini G 

PROVIDER: S-EPMC3961368 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature