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Retinitis pigmentosa 31(RP31)

MedGen UID:
372159
•Concept ID:
C1835923
•
Disease or Syndrome
Synonyms: RP 31; RP31
 
Gene (location): TOPORS (9p21.1)
 
Monarch Initiative: MONDO:0012367
OMIM®: 609923

Definition

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

Clinical features

From HPO
Abnormal electroretinogram
MedGen UID:
96908
•Concept ID:
C0476397
•
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
See: Feature record | Search on this feature
Retinal pigment epithelial atrophy
MedGen UID:
333564
•Concept ID:
C1840457
•
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
Visual field defect
MedGen UID:
854603
•Concept ID:
C3887875
•
Finding
An absolute or relative reduction in the extent of the normal field of vision.
See: Feature record | Search on this feature
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T, Takahashi M, Okazaki H, Okazaki S, Yokote K, Tada H, Ogura M, Ishigaki Y, Yamashita S, Harada-Shiba M; Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Disease of the Ministry of Health, Labour and Welfare of Japan
J Atheroscler Thromb 2024 Jul 1;31(7):1005-1023. Epub 2024 May 3 doi: 10.5551/jat.RV22018. PMID: 38710625Free PMC Article
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G, Douglas A, Baralle D, Guillot E
Exp Eye Res 2020 Mar;192:107950. Epub 2020 Jan 31 doi: 10.1016/j.exer.2020.107950. PMID: 32014492Free PMC Article

Recent clinical studies

Etiology

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.
Jackson DJ, Dubis AM, Moosajee M
Int J Mol Sci 2022 Jun 17;23(12) doi: 10.3390/ijms23126785. PMID: 35743231Free PMC Article
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
Vitreous cysts in patients with retinitis pigmentosa.
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
The genetics of mitochondrial disease.
Davis RL, Sue CM
Semin Neurol 2011 Nov;31(5):519-30. Epub 2012 Jan 21 doi: 10.1055/s-0031-1299790. PMID: 22266889

Diagnosis

Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.
Jackson DJ, Dubis AM, Moosajee M
Int J Mol Sci 2022 Jun 17;23(12) doi: 10.3390/ijms23126785. PMID: 35743231Free PMC Article
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Gücüm S, Sakson R, Hoffmann M, Grote V, Becker C, Pakari K, Beedgen L, Thiel C, Rapp E, Ruppert T, Thumberger T, Wittbrodt J
Development 2021 Jun 1;148(11) Epub 2021 Jun 9 doi: 10.1242/dev.199385. PMID: 34106226Free PMC Article
Electronic retinal implant surgery.
MacLaren RE
Eye (Lond) 2017 Feb;31(2):191-195. Epub 2017 Jan 6 doi: 10.1038/eye.2016.280. PMID: 28060358Free PMC Article
The genetics of mitochondrial disease.
Davis RL, Sue CM
Semin Neurol 2011 Nov;31(5):519-30. Epub 2012 Jan 21 doi: 10.1055/s-0031-1299790. PMID: 22266889

Therapy

Glucagon-like peptide-1 analogues in monogenic syndromic obesity: Real-world data from a large cohort of Alström syndrome patients.
Ali S, Baig S, Wanninayake S, da Silva Xavier G, Dawson C, Paisey R, Geberhiwot T
Diabetes Obes Metab 2024 Mar;26(3):989-996. Epub 2023 Dec 27 doi: 10.1111/dom.15398. PMID: 38151964
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis.
Jackson DJ, Dubis AM, Moosajee M
Int J Mol Sci 2022 Jun 17;23(12) doi: 10.3390/ijms23126785. PMID: 35743231Free PMC Article
Electronic retinal implant surgery.
MacLaren RE
Eye (Lond) 2017 Feb;31(2):191-195. Epub 2017 Jan 6 doi: 10.1038/eye.2016.280. PMID: 28060358Free PMC Article
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Hum Genet 2010 Nov;128(5):473-9. Epub 2010 Sep 18 doi: 10.1007/s00439-010-0890-8. PMID: 20852892
Managing cystoid macular edema after cataract surgery.
Nelson ML, Martidis A
Curr Opin Ophthalmol 2003 Feb;14(1):39-43. doi: 10.1097/00055735-200302000-00007. PMID: 12544809

Prognosis

A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Grainok J, Pitout IL, Chen FK, McLenachan S, Heath Jeffery RC, Mitrpant C, Fletcher S
Int J Mol Sci 2024 Mar 16;25(6) doi: 10.3390/ijms25063391. PMID: 38542364Free PMC Article
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Nguyen XT, Thiadens AAHJ, Fiocco M, Tan W, McKibbin M, Klaver CCW, Meester-Smoor MA, Van Cauwenbergh C, Strubbe I, Vergaro A, Pott JR, Hoyng CB, Leroy BP, Zemaitiene R, Khan KN, Boon CJF
Am J Ophthalmol 2023 Feb;246:1-9. Epub 2022 Oct 15 doi: 10.1016/j.ajo.2022.10.001. PMID: 36252678
Modelling the visual response to an OUReP retinal prosthesis with photoelectric dye coupled to polyethylene film.
Yamashita K, Sundaram P, Uchida T, Matsuo T, Wong W
J Neural Eng 2021 May 5;18(4) doi: 10.1088/1741-2552/abf892. PMID: 33857924
CRISPR Cas9 based genome editing in inherited retinal dystrophies.
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D
Ophthalmic Genet 2021 Aug;42(4):365-374. Epub 2021 Apr 6 doi: 10.1080/13816810.2021.1904421. PMID: 33821751
Severe retinal degeneration in a patient with Canavan disease.
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM
Ophthalmic Genet 2021 Feb;42(1):75-78. Epub 2020 Sep 25 doi: 10.1080/13816810.2020.1827441. PMID: 32975148

Clinical prediction guides

Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F.
Riaz S, Sethna S, Duncan T, Naeem MA, Redmond TM, Riazuddin S, Riazuddin S, Carvalho LS, Ahmed ZM
Mol Ther 2023 Dec 6;31(12):3490-3501. Epub 2023 Oct 20 doi: 10.1016/j.ymthe.2023.10.017. PMID: 37864333Free PMC Article
Energy expenditure deficits drive obesity in a mouse model of Alström syndrome.
Stephenson EJ, Kinney CE, Stayton AS, Han JC
Obesity (Silver Spring) 2023 Nov;31(11):2786-2798. Epub 2023 Sep 15 doi: 10.1002/oby.23877. PMID: 37712194
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Schneider N, Sundaresan Y, Gopalakrishnan P, Beryozkin A, Hanany M, Levanon EY, Banin E, Ben-Aroya S, Sharon D
Prog Retin Eye Res 2022 Jul;89:101029. Epub 2021 Nov 25 doi: 10.1016/j.preteyeres.2021.101029. PMID: 34839010
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Gücüm S, Sakson R, Hoffmann M, Grote V, Becker C, Pakari K, Beedgen L, Thiel C, Rapp E, Ruppert T, Thumberger T, Wittbrodt J
Development 2021 Jun 1;148(11) Epub 2021 Jun 9 doi: 10.1242/dev.199385. PMID: 34106226Free PMC Article
CRISPR Cas9 based genome editing in inherited retinal dystrophies.
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D
Ophthalmic Genet 2021 Aug;42(4):365-374. Epub 2021 Apr 6 doi: 10.1080/13816810.2021.1904421. PMID: 33821751

Recent systematic reviews

Diagnostic accuracy of artificial intelligence in detecting retinitis pigmentosa: A systematic review and meta-analysis.
Musleh AM, AlRyalat SA, Abid MN, Salem Y, Hamila HM, Sallam AB
Surv Ophthalmol 2024 May-Jun;69(3):411-417. Epub 2023 Dec 1 doi: 10.1016/j.survophthal.2023.11.010. PMID: 38042377
Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free 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
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review.
Brito-García N, Del Pino-Sedeño T, Trujillo-Martín MM, Coco RM, Rodríguez de la Rúa E, Del Cura-González I, Serrano-Aguilar P
Eye (Lond) 2017 Feb;31(2):273-285. Epub 2016 Dec 9 doi: 10.1038/eye.2016.286. PMID: 27935602Free PMC Article

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