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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

Somatostatin analogues as a treatment option for cystoid maculopathy in retinitis pigmentosa.
Heutinck PAT, van den Born LI, van Laar JAM, van Hagen PM, Smailhodzic D, Meester-Smoor MA, Klaver CCW, Verhoeven VJM, Thiadens AAHJ
BMJ Open Ophthalmol 2024 Aug 12;9(1) doi: 10.1136/bmjophth-2024-001722. PMID: 39134323Free 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
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

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
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
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
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
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cell Mol Life Sci 1997 May;53(5):419-29. doi: 10.1007/s000180050050. PMID: 9176560Free PMC Article

Diagnosis

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D, Della Volpe Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, Fries FN, Szentmáry N, Rivolta C, Scholl HPN, Calzetti G
Graefes Arch Clin Exp Ophthalmol 2025 Feb;263(2):379-385. Epub 2024 Oct 12 doi: 10.1007/s00417-024-06659-8. PMID: 39394491Free PMC Article
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
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
Unilateral retinitis pigmentosa: clinical and electrophysiological diagnosis.
Bawankar P, Deka H, Barman M, Bhattacharjee H, Soibam R
Can J Ophthalmol 2018 Jun;53(3):e94-e97. Epub 2017 Sep 25 doi: 10.1016/j.jcjo.2017.08.007. PMID: 29784186
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
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
The Argus II prosthesis facilitates reaching and grasping tasks: a case series.
Kotecha A, Zhong J, Stewart D, da Cruz L
BMC Ophthalmol 2014 May 23;14:71. doi: 10.1186/1471-2415-14-71. PMID: 24885164Free PMC Article
Growth and trophic factors, pH and the Na+/H+ exchanger in Alzheimer's disease, other neurodegenerative diseases and cancer: new therapeutic possibilities and potential dangers.
Harguindey S, Reshkin SJ, Orive G, Arranz JL, Anitua E
Curr Alzheimer Res 2007 Feb;4(1):53-65. doi: 10.2174/156720507779939841. PMID: 17316166

Prognosis

PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
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
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

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D, Della Volpe Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, Fries FN, Szentmáry N, Rivolta C, Scholl HPN, Calzetti G
Graefes Arch Clin Exp Ophthalmol 2025 Feb;263(2):379-385. Epub 2024 Oct 12 doi: 10.1007/s00417-024-06659-8. PMID: 39394491Free PMC Article
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
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
Discovery of 4-sulfamoyl-phenyl-β-lactams as a new class of potent carbonic anhydrase isoforms I, II, IV and VII inhibitors: The first example of subnanomolar CA IV inhibitors.
Angapelly S, Ramya PV, Angeli A, Monti SM, Buonanno M, Alvala M, Supuran CT, Arifuddin M
Bioorg Med Chem 2017 Jan 15;25(2):539-544. Epub 2016 Nov 19 doi: 10.1016/j.bmc.2016.11.027. PMID: 27919611
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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