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Retinitis pigmentosa 48(RP48)

MedGen UID:
462540
Concept ID:
C3151190
Disease or Syndrome
Synonyms: GUCA1B-Related Retinitis Pigmentosa; RP48
 
Gene (location): GUCA1B (6p21.1)
 
Monarch Initiative: MONDO:0013447
OMIM®: 613827

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B 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.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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

Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
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
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P
PLoS One 2018;13(12):e0207958. Epub 2018 Dec 13 doi: 10.1371/journal.pone.0207958. PMID: 30543658Free PMC Article

Recent clinical studies

Etiology

Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Baghdadi M, Caldani S, Maudoux A, Audo I, Bucci MP, Wiener-Vacher SR
J Vestib Res 2020;30(4):275-282. doi: 10.3233/VES-200711. PMID: 32925128
Chen ZJ, Lin KH, Lee SH, Shen RJ, Feng ZK, Wang XF, Huang XF, Huang ZQ, Jin ZB
Clin Exp Ophthalmol 2020 May;48(4):486-499. Epub 2020 Jan 20 doi: 10.1111/ceo.13708. PMID: 31872526
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P
PLoS One 2018;13(12):e0207958. Epub 2018 Dec 13 doi: 10.1371/journal.pone.0207958. PMID: 30543658Free PMC Article
Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ
Clin Genet 2018 Apr;93(4):812-821. Epub 2018 Feb 12 doi: 10.1111/cge.13170. PMID: 29112224Free PMC Article

Diagnosis

Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Baghdadi M, Caldani S, Maudoux A, Audo I, Bucci MP, Wiener-Vacher SR
J Vestib Res 2020;30(4):275-282. doi: 10.3233/VES-200711. PMID: 32925128
Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ
Clin Genet 2018 Apr;93(4):812-821. Epub 2018 Feb 12 doi: 10.1111/cge.13170. PMID: 29112224Free PMC Article
Koffler T, Ushakov K, Avraham KB
Otolaryngol Clin North Am 2015 Dec;48(6):1041-61. Epub 2015 Oct 9 doi: 10.1016/j.otc.2015.07.007. PMID: 26443487Free PMC Article
Lenaz G, Baracca A, Carelli V, D'Aurelio M, Sgarbi G, Solaini G
Biochim Biophys Acta 2004 Jul 23;1658(1-2):89-94. doi: 10.1016/j.bbabio.2004.03.013. PMID: 15282179

Therapy

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Baghdadi M, Caldani S, Maudoux A, Audo I, Bucci MP, Wiener-Vacher SR
J Vestib Res 2020;30(4):275-282. doi: 10.3233/VES-200711. PMID: 32925128
Rijavec N, Grubic VN
Psychiatr Danub 2009 Mar;21(1):68-71. PMID: 19270624
Vingolo EM, Pelaia P, Forte R, Rocco M, Giusti C, Rispoli E
Doc Ophthalmol 1998-1999;97(1):33-9. doi: 10.1023/a:1002015317479. PMID: 10710240
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Prognosis

Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ
Hum Genet 2002 Jul;111(1):26-30. Epub 2002 Jun 18 doi: 10.1007/s00439-002-0736-0. PMID: 12136232
Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D
Hum Mol Genet 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. PMID: 9002678
Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C
Proc Natl Acad Sci U S A 1996 Apr 16;93(8):3232-7. doi: 10.1073/pnas.93.8.3232. PMID: 8622919Free PMC Article
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Clinical prediction guides

Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Yoshida M, Origuchi M, Urayama S, Takatsuki A, Kan S, Aso T, Shiose T, Sawamoto N, Miyauchi S, Fukuyama H, Seiyama A
Neuroimage Clin 2014;5:161-8. Epub 2014 Feb 26 doi: 10.1016/j.nicl.2014.02.007. PMID: 25068106Free PMC Article
Rotenstreich Y, Harats D, Shaish A, Pras E, Belkin M
Br J Ophthalmol 2010 May;94(5):616-21. Epub 2009 Dec 2 doi: 10.1136/bjo.2009.167049. PMID: 19955196
Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ
Hum Genet 2002 Jul;111(1):26-30. Epub 2002 Jun 18 doi: 10.1007/s00439-002-0736-0. PMID: 12136232
Poulton J, Deadman ME, Ramacharan S, Gardiner RM
Am J Hum Genet 1991 Apr;48(4):649-53. PMID: 2014792Free PMC Article

Recent systematic reviews

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article

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