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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

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
Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL
Arch Ophthalmol 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89. PMID: 22410627
Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S
J Med Genet 2008 Jul;45(7):465-72. Epub 2008 Feb 29 doi: 10.1136/jmg.2007.056416. PMID: 18310263

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
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R
J Neuroradiol 2016 Jun;43(3):195-9. Epub 2015 Dec 17 doi: 10.1016/j.neurad.2015.10.005. PMID: 26704672Free 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
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669

Diagnosis

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
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
Sakti DH, Cornish EE, Mustafic N, Zaheer A, Retsas S, Rajagopalan S, Chung CW, Ewans L, McCluskey P, Nash BM, Jamieson RV, Grigg JR
Ophthalmic Genet 2021 Dec;42(6):706-716. Epub 2021 Jul 22 doi: 10.1080/13816810.2021.1955278. PMID: 34289798
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
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

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
Rocco ML, Soligo M, Manni L, Aloe L
Curr Neuropharmacol 2018;16(10):1455-1465. doi: 10.2174/1570159X16666180412092859. PMID: 29651949Free 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
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669
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

Soares RM, Carvalho AL, Simão S, Soares CA, Raimundo M, Alves CH, Ambrósio AF, Murta J, Saraiva J, Silva R, Marques JP
Ophthalmol Retina 2023 Jul;7(7):628-638. Epub 2023 Feb 9 doi: 10.1016/j.oret.2023.02.001. PMID: 36764454
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
Citton V, Maffei P, Marshall JD, Baglione A, Collin GB, Milan G, Vettor R, Naggert JK, Manara R
J Neuroradiol 2016 Jun;43(3):195-9. Epub 2015 Dec 17 doi: 10.1016/j.neurad.2015.10.005. PMID: 26704672Free PMC Article
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669
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

Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free 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
Chen YF, Wang IJ, Su CC, Chen MS
Optom Vis Sci 2012 Apr;89(4):471-82. doi: 10.1097/OPX.0b013e31824c0b0b. PMID: 22388669
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
Giusti C, Forte R, Vingolo EM
Eur Rev Med Pharmacol Sci 2002 Mar-Jun;6(2-3):45-8. PMID: 12708609

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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