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Syndromic retinitis pigmentosa

MedGen UID:
1826153
•Concept ID:
C5680332
•
Disease or Syndrome
Synonym: Syndromic rod-cone dystrophy
 
Orphanet: ORPHA98661

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic retinitis pigmentosa

Professional guidelines

PubMed

Current management of inherited retinal degenerations in Portugal (IRD-PT survey).
Marques JP, Ferreira N, Moreno N, Marta A, Vaz-Pereira S, Estrela-Silva S, Costa J, Cardoso AR, Neves P, Duarte L, Meira D, Pires J, Menezes C, Rodrigues F, Arede P, Coutinho A, Cabral D, Coutinho I, Ribeiro M, Macedo M, Brito S, Isidro F, Rodrigues FG, Sousa JPC, Marques M, Martins R, Silva E
Sci Rep 2024 Sep 14;14(1):21473. doi: 10.1038/s41598-024-72589-4. PMID: 39277603Free PMC Article
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article
Retinal Structure Measurements as Inclusion Criteria for Stem Cell-Based Therapies of Retinal Degenerations.
Jacobson SG, Matsui R, Sumaroka A, Cideciyan AV
Invest Ophthalmol Vis Sci 2016 Apr 1;57(5):ORSFn1-9. doi: 10.1167/iovs.15-17654. PMID: 27116670

Recent clinical studies

Etiology

Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free 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
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Diagnosis

Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Holanda IP, Rim PHH, Rare Genomes Project Consortium, Guaragna MS, Gil-da-Silva-Lopes VL, Steiner CE
Genes (Basel) 2024 Apr 20;15(4) doi: 10.3390/genes15040516. PMID: 38674450Free PMC Article
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Clinical and genetic investigations in Chinese families with retinitis pigmentosa.
Chen L, Wang N, Lai M, Hou F, He J, Fan X, Yao X, Wang R
Exp Biol Med (Maywood) 2022 Jun;247(12):1030-1038. Epub 2022 Apr 11 doi: 10.1177/15353702221085711. PMID: 35410501Free PMC Article
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Therapy

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article

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
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM
Genes (Basel) 2022 Aug 10;13(8) doi: 10.3390/genes13081423. PMID: 36011334Free PMC Article
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M
Genet Mol Res 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. PMID: 25366773

Clinical prediction guides

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
El-Asrag ME, Corton M, McKibbin M, Avila-Fernandez A, Mohamed MD, Blanco-Kelly F, Toomes C, Inglehearn CF, Ayuso C, Ali M
Mol Vis 2022;28:48-56. Epub 2022 May 17 PMID: 35693422Free PMC Article
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article
Dominant ARL3-related retinitis pigmentosa.
Holtan JP, Teigen K, Aukrust I, Bragadóttir R, Houge G
Ophthalmic Genet 2019 Apr;40(2):124-128. Epub 2019 Apr 1 doi: 10.1080/13816810.2019.1586965. PMID: 30932721
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta H, Minoshima S, Hotta Y
Semin Ophthalmol 2018;33(4):560-565. Epub 2017 Jul 5 doi: 10.1080/08820538.2017.1340487. PMID: 28678594
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M
Genet Mol Res 2014 Oct 27;13(4):8815-33. doi: 10.4238/2014.October.27.23. PMID: 25366773

Recent systematic reviews

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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