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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

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
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
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
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
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
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

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV
Ophthalmic Res 2024;67(1):172-182. Epub 2023 Dec 29 doi: 10.1159/000536036. PMID: 38160664
Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time.
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
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
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
Thicknesses of the retina and choroid in children with retinitis pigmentosa.
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
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
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

Diagnosis

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV
Ophthalmic Res 2024;67(1):172-182. Epub 2023 Dec 29 doi: 10.1159/000536036. PMID: 38160664
Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time.
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
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
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
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
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
Genetic Factors of Diabetes.
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

Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Acupuncture for retinitis pigmentosa: study protocol for a randomised, sham-controlled trial.
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
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
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
Nerve Growth Factor: A Focus on Neuroscience and Therapy.
Aloe L, Rocco ML, Balzamino BO, Micera A
Curr Neuropharmacol 2015;13(3):294-303. doi: 10.2174/1570159x13666150403231920. PMID: 26411962Free PMC Article
4-Hydroxybutyric aciduria.
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

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
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
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Metabolic Long-Term Monitoring of Transcorneal Electrical Stimulation in Retinitis Pigmentosa.
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
Association of retinitis pigmentosa and advanced keratoconus in siblings.
Zemba M, Zaharia AC, Dumitrescu OM
Rom J Ophthalmol 2020 Jul-Sep;64(3):313-321. PMID: 33367168Free PMC Article
4-Hydroxybutyric aciduria.
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

Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
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
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
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
Hyperautofluorescent Ring Pattern in Retinitis Pigmentosa: Clinical Implications and Modifications Over Time.
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
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K, Zhou Y, Li N
Ophthalmic Genet 2022 Jun;43(3):371-377. Epub 2022 Mar 7 doi: 10.1080/13816810.2022.2039721. PMID: 35254173
Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.
Kim JH, Han JW, Choi EW, Bang JH, Shin HJ, Jang MA, Lee JY, Choi JN, Chang HS, Park TK
J Korean Med Sci 2022 Jan 17;37(3):e5. doi: 10.3346/jkms.2022.37.e5. PMID: 35040292Free PMC Article

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