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Retinitis pigmentosa(RP)

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
Synonyms: RP; Tapetoretinal degeneration
SNOMED CT: RP - Retinitis pigmentosa (28835009); Retinitis pigmentosa (28835009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Genes (locations): AIPL1 (17p13.2); ARL6 (3q11.2); CFAP418 (8q22.1); CLRN1 (3q25.1); CNGA1 (4p12); CRX (19q13.33); LRAT (4q32.1); PDE6G (17q25.3); RBP3 (10q11.22); ROM1 (11q12.3)
Related genes: PRCD, PCARE, CERKL, EYS, RDH12, ZNF513, TTC8, FAM161A, DHDDS, SEMA4A, SLC7A14, KLHL7, KIZ, SPATA7, IMPG2, PRPF31, FSCN2, PRPF6, CRB1, SNRNP200, PRPF8, MERTK, TOPORS, NR2E3, PRPF3, PRPF4, PROM1, BEST1, USH2A, TULP1, SAG, RPE65, RPGR, RP2, RP1, RP9, RLBP1, RHO, RGR, PRPH2, PDE6B, PDE6A, NRL, NEK2, TRNW, TRNV, TRNL2, TRNL1, TRNK, TRNI, ND6, ND5, ND4, ND3, ND2, ND1, COX3, ATP6, MAK, IMPDH1, IDH3B, GUCA1B, CNGB1, ABCA4
 
Monarch Initiative: MONDO:0019200
OMIM®: 268000
OMIM® Phenotypic series: PS268000
Orphanet: ORPHA791

Definition

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). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from OMIM]

Additional description

From MedlinePlus Genetics
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 characterized 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).  https://medlineplus.gov/genetics/condition/retinitis-pigmentosa

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Constriction of peripheral visual field
MedGen UID:
68613
Concept ID:
C0235095
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Abnormality of fundus pigmentation
MedGen UID:
1644580
Concept ID:
C4703439
Finding
Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Retinitis pigmentosa in Orphanet.

Professional guidelines

PubMed

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Shoemark A, Harman K
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Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976

Curated

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 11 doi: 10.1038/ejhg.2011.251. PMID: 22234150Free PMC Article

Suggested Reading

PubMed

Bakondi B, Lv W, Lu B, Jones MK, Tsai Y, Kim KJ, Levy R, Akhtar AA, Breunig JJ, Svendsen CN, Wang S
Mol Ther 2016 Mar;24(3):556-63. Epub 2015 Dec 15 doi: 10.1038/mt.2015.220. PMID: 26666451Free PMC Article

Recent clinical studies

Etiology

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Song DJ, Bao XL, Fan B, Li GY
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Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Diagnosis

Wang HH, Chen N, Wang NK
Methods Mol Biol 2023;2560:1-14. doi: 10.1007/978-1-0716-2651-1_1. PMID: 36481879
Liu W, Liu S, Li P, Yao K
Int J Mol Sci 2022 Apr 28;23(9) doi: 10.3390/ijms23094883. PMID: 35563274Free PMC Article
Dan H, Huang X, Xing Y, Shen Y
Mol Genet Genomic Med 2020 Mar;8(3):e1131. Epub 2020 Jan 20 doi: 10.1002/mgg3.1131. PMID: 31960602Free PMC Article
Daiger SP, Sullivan LS, Bowne SJ
Clin Genet 2013 Aug;84(2):132-41. Epub 2013 Jun 19 doi: 10.1111/cge.12203. PMID: 23701314Free PMC Article
Pagon RA
Surv Ophthalmol 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9. PMID: 3068820

Therapy

Piotter E, McClements ME, MacLaren RE
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Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article
Hartong DT, Berson EL, Dryja TP
Lancet 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. PMID: 17113430
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
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Br J Ophthalmol 2021 Jan;105(1):87-92. Epub 2020 Mar 18 doi: 10.1136/bjophthalmol-2020-315878. PMID: 32188678Free PMC Article
Lang M, Harris A, Ciulla TA, Siesky B, Patel P, Belamkar A, Mathew S, Verticchio Vercellin AC
Acta Ophthalmol 2019 Nov;97(7):660-664. Epub 2019 May 17 doi: 10.1111/aos.14138. PMID: 31099494
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

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Ophthalmic Genet 2023 Oct;44(5):456-464. Epub 2023 Jun 9 doi: 10.1080/13816810.2023.2219732. PMID: 37293790
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Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Vanden Heuvel C, Aldred B, Boulter T, Sullivan R, Ver Hoeve J, Schmitt M
Ophthalmic Genet 2023 Feb;44(1):83-88. Epub 2022 Jul 26 doi: 10.1080/13816810.2022.2103835. PMID: 35880649
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Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039Free PMC Article
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Recent systematic reviews

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Bakthavatchalam M, Lai FHP, Rong SS, Ng DS, Brelen ME
Surv Ophthalmol 2018 May-Jun;63(3):329-339. Epub 2017 Oct 5 doi: 10.1016/j.survophthal.2017.09.009. PMID: 28987613
Zhang Q
Asia Pac J Ophthalmol (Phila) 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227. PMID: 27488069

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    Curated

    • EuroGentest, 2012
      Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

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