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X-linked retinitis pigmentosa

MedGen UID:
573215
•Concept ID:
C0339528
•
Congenital Abnormality
SNOMED CT: X-linked retinitis pigmentosa (232054005)

Professional guidelines

PubMed

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E
Eur J Ophthalmol 2017 Mar 10;27(2):240-248. Epub 2016 Oct 21 doi: 10.5301/ejo.5000879. PMID: 27768226
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
Veltel S, Wittinghofer A
Expert Opin Ther Targets 2009 Oct;13(10):1239-51. doi: 10.1517/14728220903225016. PMID: 19702441
Response to Drs. Shastry and Trese: phenotype-genotype correlations in X-linked retinitis pigmentosa.
Kaplan J, Munnich A
Am J Med Genet 1996 Nov 11;65(4):367. doi: 10.1002/(SICI)1096-8628(19961111)65:4<367::AID-AJMG29>3.0.CO;2-R. PMID: 8923955

Recent clinical studies

Etiology

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.
Gocuk SA, Jolly JK, Edwards TL, Ayton LN
Prog Retin Eye Res 2023 Sep;96:101190. Epub 2023 Jul 3 doi: 10.1016/j.preteyeres.2023.101190. PMID: 37406879
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R, Megaw R, Hurd T
Biochem Soc Trans 2016 Oct 15;44(5):1235-1244. doi: 10.1042/BST20160148. PMID: 27911705
X-linked retinitis pigmentosa. Profile of clinical findings.
Fishman GA, Farber MD, Derlacki DJ
Arch Ophthalmol 1988 Mar;106(3):369-75. doi: 10.1001/archopht.1988.01060130395029. PMID: 3257866
X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups.
Klein D, Franceschetti A, Hussels I, Race RR, Sanger R
Lancet 1967 May 6;1(7497):974-5. doi: 10.1016/s0140-6736(67)92357-4. PMID: 4164603

Diagnosis

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
Severe Phenotypic Presentation of RPGR-associated X-linked Retinitis Pigmentosa in Female Carriers: Two Case Reports.
Park H, Hwang S, Kim SJ
Korean J Ophthalmol 2024 Apr;38(2):164-166. Epub 2024 Feb 14 doi: 10.3341/kjo.2023.0119. PMID: 38351481Free PMC Article
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C
Ophthalmic Genet 2022 Oct;43(5):581-588. Epub 2022 Aug 25 doi: 10.1080/13816810.2022.2109686. PMID: 36004681
X-linked retinitis pigmentosa.
Bird AC
Br J Ophthalmol 1975 Apr;59(4):177-99. doi: 10.1136/bjo.59.4.177. PMID: 1138842Free PMC Article
X-linked retinitis pigmentosa.
Jay B, Bird A
Trans Am Acad Ophthalmol Otolaryngol 1973 Sep-Oct;77(5):OP641-51. PMID: 4784907

Therapy

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of RPGR-Associated X-Linked Retinitis Pigmentosa.
Sladen PE, Naeem A, Adefila-Ideozu T, Vermeule T, Busson SL, Michaelides M, Naylor S, Forbes A, Lane A, Georgiadis A
Int J Mol Sci 2024 Feb 2;25(3) doi: 10.3390/ijms25031839. PMID: 38339118Free PMC Article
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article
A randomized placebo-controlled clinical trial of docosahexaenoic acid (DHA) supplementation for X-linked retinitis pigmentosa.
Birch DG
Retina 2005 Dec;25(8 Suppl):S52-S54. doi: 10.1097/00006982-200512001-00023. PMID: 16374336

Prognosis

Identification of circular RNAs hosted by the RPGR ORF15 genomic locus.
Appelbaum T, Aguirre GD, Beltran WA
RNA Biol 2023 Jan;20(1):31-47. doi: 10.1080/15476286.2022.2159165. PMID: 36593651Free PMC Article
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE
Biomolecules 2021 Aug 9;11(8) doi: 10.3390/biom11081179. PMID: 34439845Free PMC Article
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N
Int J Mol Sci 2021 Jan 16;22(2) doi: 10.3390/ijms22020850. PMID: 33467000Free PMC Article
Early Cone Photoreceptor Outer Segment Length Shortening in RPGR X-Linked Retinitis Pigmentosa.
Menghini M, Jolly JK, Nanda A, Wood L, Cehajic-Kapetanovic J, MacLaren RE
Ophthalmologica 2021;244(4):281-290. Epub 2020 Mar 26 doi: 10.1159/000507484. PMID: 32209785
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R, Wright AF
Hum Mutat 2002 May;19(5):486-500. doi: 10.1002/humu.10057. PMID: 11968081

Clinical prediction guides

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N
Int J Mol Sci 2021 Jan 16;22(2) doi: 10.3390/ijms22020850. PMID: 33467000Free PMC Article
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE
Nat Med 2020 Mar;26(3):354-359. Epub 2020 Feb 24 doi: 10.1038/s41591-020-0763-1. PMID: 32094925Free PMC Article
DNA analysis and recombination in X-linked retinitis pigmentosa.
Redmond RM, Graham CA, Craig IW, Nevin NC, Archer DB
Eye (Lond) 1990;4 ( Pt 1):204-9. doi: 10.1038/eye.1990.27. PMID: 1969814
X-linked retinitis pigmentosa. Profile of clinical findings.
Fishman GA, Farber MD, Derlacki DJ
Arch Ophthalmol 1988 Mar;106(3):369-75. doi: 10.1001/archopht.1988.01060130395029. PMID: 3257866

Recent systematic reviews

A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR -ASSOCIATED X-LINKED RETINITIS PIGMENTOSA.
Lam BL, Scholl HPN, Doub D, Sperling M, Hashim M, Li N
Retina 2024 Jan 1;44(1):1-9. doi: 10.1097/IAE.0000000000003920. PMID: 37683184
Natural history and clinical biomarkers of progression in X-linked retinitis pigmentosa: a systematic review.
Zada M, Cornish EE, Fraser CL, Jamieson RV, Grigg JR
Acta Ophthalmol 2021 Aug;99(5):499-510. Epub 2020 Nov 30 doi: 10.1111/aos.14662. PMID: 33258268

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