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Retinitis pigmentosa 53(RP53)

MedGen UID:
461558
•Concept ID:
C3150208
•
Disease or Syndrome
Synonym: RP53
 
Monarch Initiative: MONDO:0800348
OMIM®: 608830; 612712

Professional guidelines

PubMed

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
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
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
Ocular and optic nerve ischemia: recognition and treatment with intravenous prostaglandin E1.
Steigerwalt RD Jr, Cesarone MR, Pascarella A, De Angelis M, Nebbioso M, Belcaro G, Feragalli B
Panminerva Med 2011 Sep;53(3 Suppl 1):119-24. PMID: 22108487

Recent clinical studies

Etiology

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Microvascular and metabolic alterations in retinitis pigmentosa and Stargardt disease.
Della Volpe Waizel M, Scholl HPN, Todorova MG
Acta Ophthalmol 2021 Dec;99(8):e1396-e1404. Epub 2021 May 10 doi: 10.1111/aos.14828. PMID: 33973369
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
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
Abnormal stereopsis and reduced retinal sensitivity in patients with retinitis pigmentosa.
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276Free PMC Article

Diagnosis

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2023 May 17;24(10) doi: 10.3390/ijms24108915. PMID: 37240262Free PMC Article
Microvascular and metabolic alterations in retinitis pigmentosa and Stargardt disease.
Della Volpe Waizel M, Scholl HPN, Todorova MG
Acta Ophthalmol 2021 Dec;99(8):e1396-e1404. Epub 2021 May 10 doi: 10.1111/aos.14828. PMID: 33973369
Juvenile-onset macular degeneration and allied disorders.
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article
Artificial vision.
Zarbin M, Montemagno C, Leary J, Ritch R
Panminerva Med 2011 Sep;53(3):167-77. PMID: 21775943

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
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.
Jackson DJ, Dubis AM, Moosajee M
Int J Mol Sci 2022 Jun 17;23(12) doi: 10.3390/ijms23126785. PMID: 35743231Free PMC Article
TRANSCORNEAL ELECTRICAL STIMULATION THERAPY MAY HAVE A STABILIZATION EFFECT ON MULTIFOCAL ELECTRORETINOGRAPHY FOR PATIENTS WITH RETINITIS PIGMENTOSA.
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Mathematical models of retinitis pigmentosa: The oxygen toxicity hypothesis.
Roberts PA, Gaffney EA, Luthert PJ, Foss AJE, Byrne HM
J Theor Biol 2017 Jul 21;425:53-71. Epub 2017 May 6 doi: 10.1016/j.jtbi.2017.05.006. PMID: 28483568
Ocular and optic nerve ischemia: recognition and treatment with intravenous prostaglandin E1.
Steigerwalt RD Jr, Cesarone MR, Pascarella A, De Angelis M, Nebbioso M, Belcaro G, Feragalli B
Panminerva Med 2011 Sep;53(3 Suppl 1):119-24. PMID: 22108487

Prognosis

Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP
Graefes Arch Clin Exp Ophthalmol 2024 Jun;262(6):1883-1897. Epub 2024 Jan 8 doi: 10.1007/s00417-023-06360-2. PMID: 38189974Free PMC Article
Nogo‑B receptor in relevant carcinoma: Current achievements, challenges and aims (Review).
Li YK, Xie YJ, Wu DC, Long SL, Tang S, Mo ZC
Int J Oncol 2018 Nov;53(5):1827-1835. Epub 2018 Aug 9 doi: 10.3892/ijo.2018.4520. PMID: 30106141
Mathematical and computational models of the retina in health, development and disease.
Roberts PA, Gaffney EA, Luthert PJ, Foss AJE, Byrne HM
Prog Retin Eye Res 2016 Jul;53:48-69. Epub 2016 Apr 7 doi: 10.1016/j.preteyeres.2016.04.001. PMID: 27063291
Juvenile-onset macular degeneration and allied disorders.
North V, Gelman R, Tsang SH
Dev Ophthalmol 2014;53:44-52. Epub 2014 Apr 10 doi: 10.1159/000357293. PMID: 24732760Free PMC Article
General pathophysiology in retinal degeneration.
Wert KJ, Lin JH, Tsang SH
Dev Ophthalmol 2014;53:33-43. Epub 2014 Apr 10 doi: 10.1159/000357294. PMID: 24732759Free PMC Article

Clinical prediction guides

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
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
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N, Krašovec T, Šuštar M, Volk M, Peterlin B, Hawlina M, Fakin A
Int J Mol Sci 2021 Feb 21;22(4) doi: 10.3390/ijms22042133. PMID: 33669941Free PMC Article
Mathematical and computational models of the retina in health, development and disease.
Roberts PA, Gaffney EA, Luthert PJ, Foss AJE, Byrne HM
Prog Retin Eye Res 2016 Jul;53:48-69. Epub 2016 Apr 7 doi: 10.1016/j.preteyeres.2016.04.001. PMID: 27063291
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M
J Med Genet 2012 Jan;49(1):27-36. Epub 2011 Dec 1 doi: 10.1136/jmedgenet-2011-100468. PMID: 22135276Free PMC Article

Recent systematic reviews

The use of augmented reality and virtual reality for visual field expansion and visual acuity improvement in low vision rehabilitation: a systematic review.
Pur DR, Lee-Wing N, Bona MD
Graefes Arch Clin Exp Ophthalmol 2023 Jun;261(6):1743-1755. Epub 2023 Jan 12 doi: 10.1007/s00417-022-05972-4. PMID: 36633669
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review.
Zafar S, Ahmad K, Ali A, Baig R
J Pak Med Assoc 2017 Nov;67(11):1734-1739. PMID: 29171570

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