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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

Efficacy of topically administered progesterone for the treatment of retinitis pigmentosa in vivo.
Vityala Y, Kaggallu AB, Sultana S, Kanteti KP, Tagaev T
Indian J Pharmacol 2023 Nov-Dec;55(6):414-415. doi: 10.4103/ijp.ijp_429_23. PMID: 38174542Free PMC Article
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free 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

Recent clinical studies

Etiology

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free 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
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA
Genet Med 2017 Jun;19(6):643-651. Epub 2016 Oct 13 doi: 10.1038/gim.2016.158. PMID: 27735924Free 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

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free PMC Article
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

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Efficacy of topically administered progesterone for the treatment of retinitis pigmentosa in vivo.
Vityala Y, Kaggallu AB, Sultana S, Kanteti KP, Tagaev T
Indian J Pharmacol 2023 Nov-Dec;55(6):414-415. doi: 10.4103/ijp.ijp_429_23. PMID: 38174542Free 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
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

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U
Genes (Basel) 2023 Jul 8;14(7) doi: 10.3390/genes14071413. PMID: 37510321Free PMC Article
Exosomes and alpha-synuclein within retina from autophagy to protein spreading in neurodegeneration.
Pinelli R, Bertelli M, Scaffidi E, Busceti CL, Biagioni F, Fornai F
Arch Ital Biol 2021 Mar 31;159(1):38-50. doi: 10.12871/00039829202114. PMID: 34159576
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

Clinical prediction guides

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free 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
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
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
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

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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