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RPGR-related retinopathy

MedGen UID:
987724
•Concept ID:
CN305589
•
Disease or Syndrome
Synonym: RPGR retinopathy
 
Monarch Initiative: MONDO:0100437

Definition

A retinopathy caused by a variant in the X-linked gene, RPGR. [from MONDO]

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

Recent clinical studies

Etiology

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.
Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):19. doi: 10.1167/iovs.64.12.19. PMID: 37695603Free PMC Article
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
Tran M, Kolesnikova M, Kim AH, Kowal T, Ning K, Mahajan VB, Tsang SH, Sun Y
Ophthalmic Genet 2023 Jun;44(3):295-303. Epub 2022 Aug 26 doi: 10.1080/13816810.2022.2113544. PMID: 36017691Free PMC Article
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I
Int J Mol Sci 2022 Jun 28;23(13) doi: 10.3390/ijms23137189. PMID: 35806195Free PMC Article
Microperimetry Hill of Vision and Volumetric Measures of Retinal Sensitivity.
Josan AS, Buckley TMW, Wood LJ, Jolly JK, Cehajic-Kapetanovic J, MacLaren RE
Transl Vis Sci Technol 2021 Jun 1;10(7):12. doi: 10.1167/tvst.10.7.12. PMID: 34110386Free PMC Article

Diagnosis

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15.
Benson MD, Mukherjee S, Agather AR, Blain D, Cunningham D, Mays R, Sun X, Li T, Hufnagel RB, Brooks BP, Huryn LA, Zein WM, Cukras CA
Invest Ophthalmol Vis Sci 2023 Sep 1;64(12):19. doi: 10.1167/iovs.64.12.19. PMID: 37695603Free PMC Article
Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
Tran M, Kolesnikova M, Kim AH, Kowal T, Ning K, Mahajan VB, Tsang SH, Sun Y
Ophthalmic Genet 2023 Jun;44(3):295-303. Epub 2022 Aug 26 doi: 10.1080/13816810.2022.2113544. PMID: 36017691Free PMC Article
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I
Int J Mol Sci 2022 Jun 28;23(13) doi: 10.3390/ijms23137189. PMID: 35806195Free PMC Article
Clinical applications of microperimetry in RPGR-related retinitis pigmentosa: a review.
Buckley TMW, Jolly JK, Josan AS, Wood LJ, Cehajic-Kapetanovic J, MacLaren RE
Acta Ophthalmol 2021 Dec;99(8):819-825. Epub 2021 Mar 29 doi: 10.1111/aos.14816. PMID: 33783139

Therapy

Clinical applications of microperimetry in RPGR-related retinitis pigmentosa: a review.
Buckley TMW, Jolly JK, Josan AS, Wood LJ, Cehajic-Kapetanovic J, MacLaren RE
Acta Ophthalmol 2021 Dec;99(8):819-825. Epub 2021 Mar 29 doi: 10.1111/aos.14816. PMID: 33783139
Molecular Strategies for RPGR Gene Therapy.
Cehajic Kapetanovic J, McClements ME, Martinez-Fernandez de la Camara C, MacLaren RE
Genes (Basel) 2019 Sep 4;10(9) doi: 10.3390/genes10090674. PMID: 31487940Free PMC Article

Clinical prediction guides

Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.
Micevych PS, Wong J, Zhou H, Wang RK, Porco TC, Carroll J, Roorda A, Duncan JL
Am J Ophthalmol 2023 Jun;250:1-11. Epub 2023 Jan 14 doi: 10.1016/j.ajo.2023.01.006. PMID: 36646238Free PMC Article
Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry.
Buckley TMW, Josan AS, Taylor LJ, Jolly JK, Cehajic-Kapetanovic J, MacLaren RE
Transl Vis Sci Technol 2022 May 2;11(5):15. doi: 10.1167/tvst.11.5.15. PMID: 35576214Free PMC Article

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