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Retinitis pigmentosa-deafness syndrome(RP21, FORMERLY; RP8, FORMERLY)

MedGen UID:
1830314
•Concept ID:
C5779620
•
Disease or Syndrome
Synonyms: Dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome; Hallgren syndrome; RETINITIS PIGMENTOSA 21; Retinitis pigmentosa 21, formerly; RETINITIS PIGMENTOSA 8; Retinitis pigmentosa 8, formerly; RP21, formerly; RP8, formerly
 
Monarch Initiative: MONDO:0010775
OMIM®: 500004

Definition

An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. [from MONDO]

Professional guidelines

PubMed

Intravenous immunoglobulin for the treatment of Kawasaki disease.
Broderick C, Kobayashi S, Suto M, Ito S, Kobayashi T
Cochrane Database Syst Rev 2023 Jan 25;1(1):CD014884. doi: 10.1002/14651858.CD014884.pub2. PMID: 36695415Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Usher syndrome type 1: genotype-phenotype relationships.
Friedman TB, Schultz JM, Ahmed ZM
Retina 2005 Dec;25(8 Suppl):S40-S42. doi: 10.1097/00006982-200512001-00016. PMID: 16374329

Recent clinical studies

Etiology

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free PMC Article
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free 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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Diagnosis

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, Romano F, Onore ME, Pizzo M, Melillo P, Brunetti-Pierri R, Passerini I, Pelo E, Cremers FPM, Esposito G, Nigro V, Simonelli F, Banfi S
Sci Rep 2022 Dec 2;12(1):20815. doi: 10.1038/s41598-022-24636-1. PMID: 36460718Free PMC Article
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Therapy

Intravenous immunoglobulin for the treatment of Kawasaki disease.
Broderick C, Kobayashi S, Suto M, Ito S, Kobayashi T
Cochrane Database Syst Rev 2023 Jan 25;1(1):CD014884. doi: 10.1002/14651858.CD014884.pub2. PMID: 36695415Free PMC Article
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction.
Hastings ML, Jones TA
Neurotherapeutics 2019 Apr;16(2):348-359. doi: 10.1007/s13311-019-00729-0. PMID: 30972560Free PMC Article
Histopathology of the inner ear relevant to cochlear implantation.
Nadol JB, Eddington DK
Adv Otorhinolaryngol 2006;64:31-49. doi: 10.1159/000094643. PMID: 16891835
Genetic diseases of hearing.
Spillmann T
Curr Opin Neurol 1994 Feb;7(1):81-7. doi: 10.1097/00019052-199402000-00015. PMID: 8173684

Prognosis

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ, Wang DD, Chen F, Sun HX, Hu FY, Xu P, Li J, Liu W, Qi YH, Li W, Wang M, Zhang S, Xu GZ, Chang Q, Wu JH
Br J Ophthalmol 2021 Jan;105(1):87-92. Epub 2020 Mar 18 doi: 10.1136/bjophthalmol-2020-315878. PMID: 32188678Free PMC Article
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
The changing face of Usher syndrome: clinical implications.
Cohen M, Bitner-Glindzicz M, Luxon L
Int J Audiol 2007 Feb;46(2):82-93. doi: 10.1080/14992020600975279. PMID: 17365059

Clinical prediction guides

Intravenous immunoglobulin for the treatment of Kawasaki disease.
Broderick C, Kobayashi S, Suto M, Ito S, Kobayashi T
Cochrane Database Syst Rev 2023 Jan 25;1(1):CD014884. doi: 10.1002/14651858.CD014884.pub2. PMID: 36695415Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR
Eur J Hum Genet 2015 Oct;23(10):1318-27. Epub 2015 Feb 4 doi: 10.1038/ejhg.2014.283. PMID: 25649381Free PMC Article
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 p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Han JH, Cancellieri F, Perea-Romero I, Ayuso C, Quinodoz M, Rivolta C
Ophthalmic Res 2024;67(1):107-114. Epub 2023 Nov 28 doi: 10.1159/000535545. PMID: 38016437
Intravenous immunoglobulin for the treatment of Kawasaki disease.
Broderick C, Kobayashi S, Suto M, Ito S, Kobayashi T
Cochrane Database Syst Rev 2023 Jan 25;1(1):CD014884. doi: 10.1002/14651858.CD014884.pub2. PMID: 36695415Free PMC Article
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642
Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.
Nishio SY, Usami SI
Acta Otolaryngol 2017 Jul;137(7):730-742. Epub 2017 Feb 24 doi: 10.1080/00016489.2016.1276303. PMID: 28498079
H1-antihistamines for primary mast cell activation syndromes: a systematic review.
Nurmatov UB, Rhatigan E, Simons FE, Sheikh A
Allergy 2015 Sep;70(9):1052-61. Epub 2015 Jul 6 doi: 10.1111/all.12672. PMID: 26095756

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