Preclinical Models of Retinitis Pigmentosa.

Abstract

Retinitis pigmentosa (RP) is the name for a group of phenotypically-related heritable retinal degenerative disorders. Many genes have been implicated as causing variants of RP, and while the clinical phenotypes are remarkably similar, they may differ in age of onset, progression, and severity. Common inheritance patterns for specific genes connected with the development of the disorder include autosomal dominant, autosomal recessive, and X-linked. Modeling the disease in animals and other preclinical systems offers a cost-conscious, ethical, and time-efficient method for studying the disease subtypes. The history of RP models is briefly examined, and both naturally occurring and transgenic preclinical models of RP in many different organisms are discussed. Syndromic forms of RP and models thereof are reviewed as well.