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Retinitis pigmentosa 70(RP70)

MedGen UID:
863118
Concept ID:
C4014681
Disease or Syndrome
Synonym: RP70
 
Gene (location): PRPF4 (9q32)
 
Monarch Initiative: MONDO:0014400
OMIM®: 615922

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 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.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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

Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R
Ophthalmic Genet 2022 Oct;43(5):633-640. Epub 2022 Jul 7 doi: 10.1080/13816810.2022.2096243. PMID: 35796432
Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL
Indian J Ophthalmol 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. PMID: 35791130Free PMC Article
Huang XF
Adv Exp Med Biol 2018;1074:439-445. doi: 10.1007/978-3-319-75402-4_54. PMID: 29721974

Recent clinical studies

Etiology

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
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505

Diagnosis

Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free 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
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ
PLoS One 2013;8(11):e78496. Epub 2013 Nov 12 doi: 10.1371/journal.pone.0078496. PMID: 24265693Free PMC Article

Therapy

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Huang XF
Adv Exp Med Biol 2018;1074:439-445. doi: 10.1007/978-3-319-75402-4_54. PMID: 29721974
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ
Prog Retin Eye Res 2018 Mar;63:107-131. Epub 2017 Oct 31 doi: 10.1016/j.preteyeres.2017.10.004. PMID: 29097191
Alkemade PP
Ophthalmologica 1968;155(1):70-6. doi: 10.1159/000305340. PMID: 5647013

Prognosis

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Stefánsson E, Olafsdottir OB, Eliasdottir TS, Vehmeijer W, Einarsdottir AB, Bek T, Torp TL, Grauslund J, Eysteinsson T, Karlsson RA, Van Keer K, Stalmans I, Vandewalle E, Todorova MG, Hammer M, Garhöfer G, Schmetterer L, Šín M, Hardarson SH
Prog Retin Eye Res 2019 May;70:1-22. Epub 2019 Apr 15 doi: 10.1016/j.preteyeres.2019.04.001. PMID: 30999027
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article

Clinical prediction guides

Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. PMID: 38088826Free PMC Article
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH
Sci Rep 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. PMID: 32098976Free PMC Article
Stefánsson E, Olafsdottir OB, Eliasdottir TS, Vehmeijer W, Einarsdottir AB, Bek T, Torp TL, Grauslund J, Eysteinsson T, Karlsson RA, Van Keer K, Stalmans I, Vandewalle E, Todorova MG, Hammer M, Garhöfer G, Schmetterer L, Šín M, Hardarson SH
Prog Retin Eye Res 2019 May;70:1-22. Epub 2019 Apr 15 doi: 10.1016/j.preteyeres.2019.04.001. PMID: 30999027

Recent systematic reviews

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article

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