[Retinitis pigmentosa - a review. Pathogenesis, guidelines for diagnostics and perspectives]

Abstract

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of hereditary retinal disorders, being one of the most common types of retinal degeneration with a prevalence of 1:4,000. More than 45 genes have so far been associated with RP and defects cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction often leading to complete blindness. Enormous progress has been made in research in recent years and the new therapeutic approaches are promising. Furthermore, with the help of improved molecular genetic and functional diagnostic tools an early recognition and differentiation has become possible. However, at present no established therapy is available, therefore, social and professional consequences are essential tasks to deal with. This paper summarizes the basic principles of retinal pathophysiology, clinical findings, diagnostics and therapeutic perspectives, furthermore, the implications for general ophthalmologists are provided.