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Retinitis pigmentosa 45(RP45)

MedGen UID:
462416
Concept ID:
C3151066
Disease or Syndrome
Synonym: RP45
 
Gene (location): CNGB1 (16q21)
 
Monarch Initiative: MONDO:0013413
OMIM®: 613767

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. [from MONDO]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Peripheral visual field loss
MedGen UID:
116124
Concept ID:
C0241688
Finding
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q
Int J Mol Sci 2023 Apr 4;24(7) doi: 10.3390/ijms24076728. PMID: 37047703Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article

Recent clinical studies

Etiology

Antropoli A, Arrigo A, Bianco L, Cavallari E, Bandello F, Battaglia Parodi M
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):8. doi: 10.1167/iovs.64.12.8. PMID: 37669062Free PMC Article
Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
Kong X, Dorfman C, Trotochaud S, Naufal F, Latkin CA, Campochiaro PA
Ophthalmic Genet 2022 Feb;43(1):36-41. Epub 2021 Aug 11 doi: 10.1080/13816810.2021.1961282. PMID: 34380366Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Liu X, Li J, Lin S, Xiao X, Luo J, Wei W, Ling Y, Fang L, Xiao H, Chen L, Huang J, Zhong Y, Zhang Q
Exp Eye Res 2020 Aug;197:108118. Epub 2020 Jun 17 doi: 10.1016/j.exer.2020.108118. PMID: 32562694

Diagnosis

Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Ohno-Matsui K, Jonas JB
Prog Retin Eye Res 2019 May;70:99-109. Epub 2018 Dec 8 doi: 10.1016/j.preteyeres.2018.12.001. PMID: 30537538
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Kong X, Dorfman C, Trotochaud S, Naufal F, Latkin CA, Campochiaro PA
Ophthalmic Genet 2022 Feb;43(1):36-41. Epub 2021 Aug 11 doi: 10.1080/13816810.2021.1961282. PMID: 34380366Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Downes SM, Nguyen T, Tai V, Broadgate S, Shah M, Al-Khuzaei S, MacLaren RE, Shanks M, Clouston P, Halford S
Genes (Basel) 2020 Dec 12;11(12) doi: 10.3390/genes11121497. PMID: 33322828Free PMC Article
Rocco ML, Soligo M, Manni L, Aloe L
Curr Neuropharmacol 2018;16(10):1455-1465. doi: 10.2174/1570159X16666180412092859. PMID: 29651949Free 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

Prognosis

Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q
Int J Mol Sci 2023 Apr 4;24(7) doi: 10.3390/ijms24076728. PMID: 37047703Free PMC Article
Marques JP, Neves E, Geada S, Carvalho AL, Murta J, Saraiva J, Silva R
Graefes Arch Clin Exp Ophthalmol 2022 Sep;260(9):2859-2866. Epub 2022 Apr 7 doi: 10.1007/s00417-022-05649-y. PMID: 35389060
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Arsiwalla TA, Cornish EE, Nguyen PV, Korsakova M, Ali H, Saakova N, Fraser CL, Jamieson RV, Grigg JR
Transl Vis Sci Technol 2020 Dec;9(13):29. Epub 2020 Dec 17 doi: 10.1167/tvst.9.13.29. PMID: 33364083Free PMC Article
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

Antropoli A, Arrigo A, Bianco L, Cavallari E, Bandello F, Battaglia Parodi M
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):8. doi: 10.1167/iovs.64.12.8. PMID: 37669062Free PMC Article
Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, Wang P, Zhang Q
Int J Mol Sci 2023 Apr 4;24(7) doi: 10.3390/ijms24076728. PMID: 37047703Free PMC Article
Azad R, Sinha S, Nishant P
Indian J Ophthalmol 2021 Nov;69(11):3026-3034. doi: 10.4103/ijo.IJO_1525_21. PMID: 34708738Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article

Recent systematic reviews

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843Free PMC Article
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

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