This report describes general characteristics of the group of diseases classified as retinitis pigmentosa (RP). Retinitis pigmentosa is a genetically heterogeneous disorder with many causative genes and mapped loci. A comprehensive list of RP subtypes, as defined by OMIM (which number 89 to date), can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
A number of genes associated with retinal disease are implicated in multiple related diseases, including retinitis pigmentosa, cone-rod dystrophy, and forms of macular degeneration. See human disease model reports for 'retinal disease, rhodopsin-related' (FBhh0000219), 'retinal disease, PROM1-related' (FBhh0000571), 'retinal disease, CRB1-related' (FBhh0000572), and 'retinal disease, CRX-related' (FBhh0000567).
[updated Mar. 2020 by FlyBase; FBrf0222196]
The rate and extent of disease progression vary markedly among RP patients, in some cases, even within the same family. [from MIM:600059; 2020.08.04]
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008; pubmed:18376416). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. [from MIM:268000; 2016.03.07]
Retinitis pigmentosa is a genetically heterogeneous disorder with over 90 implicated genes; see Phenotypic Series MIM:PS268000. [from MIM:268000; 2020.08.04]
Early RP symptoms include night blindness and gradual loss of peripheral vision due to the loss of rod photoreceptors which ensure achromatic, low-light vision. As the disease advances, the rod elimination is followed by the death of cones, ultimately resulting in complete blindness (FBrf0246001 and references cited therein, including Campochiaro and Mir, 2018, pubmed:28962928; Hartong et al., 2006, pubmed:17113430).
