Author: Itia Dowdell
Departments:
Science and Technology Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA
School of Health Professions Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA
Department of Clinical and Diagnostic Sciences, University of Alabama at Birmingham, Birmingham, AL, USA
Abstract
Retinitis Pigmentosa (RP) is a heterogeneous set of inherited retinal diseases that affects 1 in 3,000–7,000 people worldwide.Typical onset is from 10–30 years old and most forms are progressive, often leading to blindness. Defects in more than 200 genes have been identifiedthat cause RP. The disease is characterized as a progressive rod-cone dystrophy that presents with night blindness, loss of peripheral vision, waxy pallor of the optic disc, pigmentary changes, and a reduced visual field. There are different modes of transmission of RP: autosomal dominant (ADRP), autosomal recessive (arRP), X-linked (XLRP) and mitochondrial. The genetics behind the different forms of RP and the degree of severity vary, although some overlap, thus contributing to the difficulty of differential diagnosis. RP can manifest either as a non-syndromic disease, or as part of a syndrome, such as in Usher’s syndrome (hearing and vision loss) and Bardet Biedl syndrome (a ciliopathy). The purpose of this review is to summarize the major genetic and molecular findings, as well as the diseases, associated with RP. Due to space limitations, this review is not fully comprehensive.