This report describes retinitis pigmentosa 41 (RP41), which is a subtype of retinitis pigmentosa; RP41 exhibits autosomal recessive inheritance. The human gene implicated in this disease is Prominin 1 (PROM1), which encodes a transmembrane glycoprotein. PROM1 is also implicated in other diseases associated with retinal degeneration (MIM:604365). See the report for 'retinal disease, PROM1-related' (FBhh0000571) for information on experimental results using Drosophila models of this and related diseases.
[updated Jun. 2017 by FlyBase; FBrf0222196]
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]
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 41; RP41](https://omim.org/entry/612095)
[PROMININ 1; PROM1](https://omim.org/entry/604365)
See general description above.
Retinitis pigmentosa 41 is an autosomal recessive form of the disease; it is caused by mutation in the prominin 1 (PROM1 gene). [from MIM:612095; 2016.03.09]
PROM1 encodes a pentaspan transmembrane glycoprotein which appears to play a role in multiple developmental processes, including retinal development. [from Gene Cards, PROM1; 2016.03.18]
Many to many: 2 human to 2 Drosophila. The human genes PROM1 and PROM2 are orthologous to fly genes Dmel\prominin-like and Dmel\prom. In flies, there is an additional low-scoring ortholog.
