A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes.
The family of inherited ocular diseases that is collectively known as retinitis pigmentosa is a major cause of progressive retinal disease worldwide. As such, this family of diseases has been the object of much scientific scrutiny, both clinical and basic. The recent application of molecular genetic analyses has heralded the rapid elucidation of the underlying gene defects in many cases. In this article, the fundamental clinical and electroretinographic characteristics of retinitis pigmentosa will be recalled. Additionally, the current understanding of the genetic causes of retinitis pigmentosa will be reviewed, and the identified causative genes will be classified into groups related by function.
Phelan
J K
JK
Department of Pediatrics, School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Bok
D
D
D000818:Animals; D004596:Electroretinography; D005136:Eye Proteins / Q000145:classification / Q000235:genetics; D006801:Humans; D009154:Mutation; D010786:Photoreceptor Cells / Q000473:pathology / Q000502:physiology; D012160:Retina / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D014785:Vision, Ocular / Q000235:genetics
D005136:Eye Proteins