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Retinitis pigmentosa 64(RP64)

MedGen UID:
482676
Concept ID:
C3281046
Disease or Syndrome
Synonym: RP64
 
Monarch Initiative: MONDO:0800359
OMIM®: 614477; 614500

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F, Callus E, Cagnin S, Reggiani F, Minervini G, Tosatto S, Vettor R, Semenza C, Maffei P
Am J Med Genet A 2021 Mar;185(3):732-742. Epub 2021 Jan 7 doi: 10.1002/ajmg.a.62029. PMID: 33410256
Priya S, Nampoothiri S, Sen P, Sripriya S
Indian J Ophthalmol 2016 Sep;64(9):620-627. doi: 10.4103/0301-4738.194328. PMID: 27853007Free 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
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free 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
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R
Br J Ophthalmol 2021 May;105(5):694-703. Epub 2020 Jul 16 doi: 10.1136/bjophthalmol-2019-315786. PMID: 32675063
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744

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
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Huang H, Chen Y, Chen H, Ma Y, Chiang PW, Zhong J, Liu X, Asan, Wu J, Su Y, Li X, Deng J, Huang Y, Zhang X, Li Y, Fan N, Wang Y, Tang L, Shen J, Chen M, Zhang X, Te D, Banerjee S, Liu H, Qi M, Yi X
PLoS One 2018;13(4):e0185237. Epub 2018 Apr 11 doi: 10.1371/journal.pone.0185237. PMID: 29641573Free PMC Article
Strong S, Liew G, Michaelides M
Br J Ophthalmol 2017 Jan;101(1):31-37. Epub 2016 Dec 2 doi: 10.1136/bjophthalmol-2016-309376. PMID: 27913439Free PMC Article
Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) 2016 Dec;64(Suppl 1):157-160. Epub 2017 Jan 12 doi: 10.1007/s00005-016-0432-8. PMID: 28083605

Therapy

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Huang H, Wang J, Li H, Lei R, Zou W, Huang Q, Gao N, Zheng Y
BMJ Open 2021 Nov 12;11(11):e049245. doi: 10.1136/bmjopen-2021-049245. PMID: 34772749Free PMC Article
Strong S, Liew G, Michaelides M
Br J Ophthalmol 2017 Jan;101(1):31-37. Epub 2016 Dec 2 doi: 10.1136/bjophthalmol-2016-309376. PMID: 27913439Free PMC Article
Aloe L, Rocco ML, Balzamino BO, Micera A
Curr Neuropharmacol 2015;13(3):294-303. doi: 10.2174/1570159x13666150403231920. PMID: 26411962Free PMC Article
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J
Brain Dev 1994 Nov;16 Suppl:64-71. doi: 10.1016/0387-7604(94)90098-1. PMID: 7726383

Prognosis

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Zemba M, Zaharia AC, Dumitrescu OM
Rom J Ophthalmol 2020 Jul-Sep;64(3):313-321. PMID: 33367168Free PMC Article
Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH
Ophthalmic Genet 2018 Oct;39(5):610-614. Epub 2018 Aug 28 doi: 10.1080/13816810.2018.1509354. PMID: 30153077
Rahbeeni Z, Ozand PT, Rashed M, Gascon GG, al Nasser M, al Odaib A, Amoudi M, Nester M, al Garawi S, Brismar J
Brain Dev 1994 Nov;16 Suppl:64-71. doi: 10.1016/0387-7604(94)90098-1. PMID: 7726383

Clinical prediction guides

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
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
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
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
Yang Y, Tian D, Lee J, Zeng J, Zhang H, Chen S, Guo H, Xiong Z, Xia K, Hu Z, Luo J
Ophthalmic Genet 2015 Mar;36(1):64-9. Epub 2013 Jul 8 doi: 10.3109/13816810.2013.809458. PMID: 23834559

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