Retinitis Pigmentosa

Clinical Features

Nonsyndromic Retinitis Pigmentosa (RP, OMIM # 268000) represents a large group of inherited degenerative diseases of the retina with a worldwide prevalence of ~1 in 4000 (Booij et al. 2005. PubMed ID: 16272259; Farrar et al. 2002. PubMed ID: 11867514). RP is characterized by nyctalopia (night blindness), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999. PubMed ID: 10025514). The clinical hallmarks are abnormal fundus with bone-spicule deposits and attenuated retinal vessels, abnormal electroretinographic findings and reduced visual fields (Daiger et al. 2007. PubMed ID: 17296890). The age of onset varies from childhood to middle age (Gu et al. 1999. PubMed ID: 10507729). Genetic abnormalities are the primary cause of RP and it is remarkably heterogeneous both clinically and genetically.

Disease Control/Management

There may be a small beneficial effect of vitamin A, lutein and β-carotene on the progression of RP (Brito-García N. et al. 2017. PubMed ID: 27935602). However, patients with ABCA4-associated RP should avoid the intake of vitamin A ( http://www.blindness.org/, 05/11/2018), which emphasizes the importance of genetic testing. Avoidance of excessive sunlight exposure is recommended (Hamel C. 2006. PubMed ID: 17032466). The United States Food and Drug Administration (FDA) has approved the first gene therapy, voretigene neparvovec-rzyl (LUXTURNA™), for treatment of patients with retinal disease caused by variants in RPE65 ( https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm) and there are ongoing clinical trials of gene therapy for various types of other retinal disorders (https://clinicaltrials.gov/ct2/home).

Disclaimer

This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.

Last Updated: 5/11/2018