Retinitis pigmentosa
Last updated 1 Mar 2023
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Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
Description
Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.
The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.
Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterised by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
Pigmentary retinopathy
Rod-cone dystrophy
RP
Tapetoretinal degeneration
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Retinitis pigmentosa Retinitis pigmentosa is the term for several inherited diseases with a gradual deterioration of the light-sensitive cells of the retina. Symptoms often start in childhood with difficulty seeing in the dark. Retinal dystrophy Retinal dystrophies are a group of inherited disorders which result in changes to the retina, which may.
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Most patients who have ha... See the separate leaflet called Diabetic retinopathy for more details. Retinitis pigmentosa (RP) 'Retinitis pigmentosa' is the term for several inherited diseases which cause a gradual deterioration of the light-sensitive cells of the retina. Both rod (black/white, night vision and movement sensors) and cone (colour.
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Further reading and references
- Retinitis pigmentosa; MedlinePlus, National Library of Medicine.
- Birtel J, Gliem M, Mangold E, Muller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018.
- Branham K, Samarakoon L, Audo I, Ayala AR, Cheetham JK, Daiger SP, Dhooge P, Duncan JL, Durham TA, Fahim AT, Huckfeldt RM, Hufnagel RB, Kohl S, Maldonado RS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Sallum JMF, Singh MS, Sharon D, Stepien K, Jones K, Weng CY; Foundation Fighting Blindness Clinical Consortium Investigator Group. Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll. Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):12. doi: 10.1167/iovs.66.2.12.
- Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.
- Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007 Feb;125(2):151-8. doi: 10.1001/archopht.125.2.151.
- Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1417/
- Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40.
- Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.
- Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Syndromic retinitis pigmentosa. Prog Retin Eye Res. 2025 Jul;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Epub 2024 Dec 27.
- O'Neal TB, Tripathy K, Luther EE. Retinitis Pigmentosa. 2024 Feb 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK519518/
- Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27.
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