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Retinitis pigmentosa 55(RP55)

MedGen UID:
462158
•Concept ID:
C3150808
•
Disease or Syndrome
Synonym: RP55
 
Gene (location): ARL6 (3q11.2)
 
Monarch Initiative: MONDO:0013312
OMIM®: 613575

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. [from MONDO]

Clinical features

From HPO
Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases.
Clérin E, Marussig M, Sahel JA, Léveillard T
Int J Mol Sci 2020 Feb 27;21(5) doi: 10.3390/ijms21051625. PMID: 32120883Free PMC Article
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976
Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases.
Poulton J, Marchington DR
Neuromuscul Disord 2000 Oct;10(7):484-7. doi: 10.1016/s0960-8966(00)00130-9. PMID: 10996778

Recent clinical studies

Etiology

Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
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
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group, Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C
Sci Rep 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. PMID: 33452396Free PMC Article
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J
Eur J Hum Genet 2014 Jan;22(1):99-104. Epub 2013 Apr 17 doi: 10.1038/ejhg.2013.72. PMID: 23591405Free PMC Article

Diagnosis

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free 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
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB
Genet Med 2015 Apr;17(4):271-8. Epub 2014 Nov 6 doi: 10.1038/gim.2014.138. PMID: 25356976

Therapy

Assessment of Visual Function with Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa in the Randomized XIRIUS Phase 2/3 Study.
Lam BL, Pennesi ME, Kay CN, Panda S, Gow JA, Zhao G, MacLaren RE; XIRIUS Study Group
Ophthalmology 2024 Sep;131(9):1083-1093. Epub 2024 Feb 28 doi: 10.1016/j.ophtha.2024.02.023. PMID: 38423215
Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Corneal characteristics in patients with retinitis pigmentosa.
Zeki Fikret C, Ucgun NI, Karaca EE, Evren Kemer O
Photodiagnosis Photodyn Ther 2023 Jun;42:103554. Epub 2023 Apr 6 doi: 10.1016/j.pdpdt.2023.103554. PMID: 37030435
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Vitamin A and fish oils for retinitis pigmentosa.
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

Prognosis

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
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
Visual Field Progression in Retinitis Pigmentosa.
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Vitamin A and fish oils for retinitis pigmentosa.
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

Clinical prediction guides

Driving with retinitis pigmentosa.
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Vitamin A and fish oils for retinitis pigmentosa.
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

Recent systematic reviews

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article
Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Vitamin A and fish oils for retinitis pigmentosa.
Rayapudi S, Schwartz SG, Wang X, Chavis P
Cochrane Database Syst Rev 2013 Dec 19;2013(12):CD008428. doi: 10.1002/14651858.CD008428.pub2. PMID: 24357340Free PMC Article

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