Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa

Retinitis pigmentosa (RP) is the term used to describe a heterogeneous group of inherited retinal degenerations primarily affecting rod photoreceptor cells. In the initial stages of the disease, patients experience night blindness and peripheral loss of visual fields, while at the later stages this may progress to complete blindness. RP can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. Autosomal dominant RP (adRP) is genetically heterogeneous and can be caused by mutations in at least six genes localized to different parts of the genome. The gene for rhodopsin was the first to be implicated in adRP causation and accounts for almost 30% of families with adRP. More than 50 mutations spanning the entire coding region have so far been identified. We report the identification of two new rhodopsin mutations, Leu40Arg (L40R), and Met216Lys (M216K), in families with adRP.