About Retinitis Pigmentosa (RP)
Retinitis Pigmentosa is a leading cause of visual disability and blindness, affecting over 1.5 million people worldwide.1,2 It is the most common type of inherited retinal dystrophy, with a high burden on both patients and society. RP is typically diagnosed in young adulthood, with an average age at diagnosis of 35 years.3
Progressive symptoms include night blindness, reduction in peripheral and central vision, commonly called “tunnel vision,” and reduced ability to see details and colors.4
Progression of RP can vary widely between individuals, though many with RP are legally blind by 40-50 years of age.1
RP is a group of progressive inherited retinal diseases (IRDs) characterized by the primary degeneration of rod photoreceptors, followed by the loss of cone photoreceptors.1
The genetics of RP is complex, with over 80 causative genes identified; faults in any of these can cause the disease.1
RP follows various inheritance patterns, including autosomal dominant, autosomal recessive and X-linked.6 It is also not unusual for cases to occur where there is no known family history of the disease, given the complexity and evolving knowledge of RP genetics.7
No therapeutic interventions are currently available to address late-stage photoreceptor loss in RP patients.
References
- Verbakel S et al. Progress in Retinal and Eye Research 2018;66:157-186
- Wu, K.Y.; Kulbay, M.; Toameh, D.; Xu, A.Q.; Kalevar, A.; Tran, S.D. Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development. Pharmaceutics 2023, 15, 685
- Tsujikawa M et al. Arch Ophthalmol 2008;126:337–340
- Zhang Q Asia-Pacific Journal of Ophthalmology 2016;5:265-271
- Parmeggiani F, et al. Curr Genomics. 2011;12(4):250-259
- Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics. 2011 Jun;12(4):238-49
- Sorrentino_Eye (2016) 30, 1542–1548