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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
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Genotype-phenotype correlations in Bardet-Biedl syndrome.
Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL
Arch Ophthalmol 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89. PMID: 22410627

Recent clinical studies

Etiology

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free 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
Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa.
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S
Biomed Res Int 2022;2022:7204954. Epub 2022 Jul 14 doi: 10.1155/2022/7204954. PMID: 35872870Free 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
Retinal Detachment in 31 Eyes with Retinitis Pigmentosa.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295

Diagnosis

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa.
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S
Biomed Res Int 2022;2022:7204954. Epub 2022 Jul 14 doi: 10.1155/2022/7204954. PMID: 35872870Free PMC Article
Retinal Detachment in 31 Eyes with Retinitis Pigmentosa.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
Strong S, Liew G, Michaelides M
Br J Ophthalmol 2017 Jan;101(1):31-37. Epub 2016 Dec 2 doi: 10.1136/bjophthalmol-2016-309376. PMID: 27913439Free PMC Article
Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Therapy

Monocular transcorneal electrical stimulation induces ciliary muscle thickening in contralateral eye.
Wagner S, Süer E, Sigdel B, Zrenner E, Strasser T
Exp Eye Res 2023 Jun;231:109475. Epub 2023 Apr 13 doi: 10.1016/j.exer.2023.109475. PMID: 37061116
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
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
Strong S, Liew G, Michaelides M
Br J Ophthalmol 2017 Jan;101(1):31-37. Epub 2016 Dec 2 doi: 10.1136/bjophthalmol-2016-309376. PMID: 27913439Free PMC Article
Human neural retinal transplantation.
Humayun MS, de Juan E Jr, del Cerro M, Dagnelie G, Radner W, Sadda SR, del Cerro C
Invest Ophthalmol Vis Sci 2000 Sep;41(10):3100-6. PMID: 10967070

Prognosis

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa.
Ito N, Miura G, Shiko Y, Kawasaki Y, Baba T, Yamamoto S
Biomed Res Int 2022;2022:7204954. Epub 2022 Jul 14 doi: 10.1155/2022/7204954. PMID: 35872870Free 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
Retinal Detachment in 31 Eyes with Retinitis Pigmentosa.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295
Brown-Vialetto-Van Laere syndrome.
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Clinical prediction guides

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J, Xie Y, Ye H, Chen C, Sun T, Xu K, Zhang X, Li Y
Eye (Lond) 2023 Nov;37(16):3398-3405. Epub 2023 Apr 8 doi: 10.1038/s41433-023-02516-w. PMID: 37031301Free 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
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
Retinal Detachment in 31 Eyes with Retinitis Pigmentosa.
Rishi E, Rishi P, Bhende M, Koundanya VV, Sidramayya R, Maitray A, Rao C, Susvar P, Bhende P, Sharma T
Ophthalmol Retina 2018 Jan;2(1):10-16. Epub 2017 May 24 doi: 10.1016/j.oret.2017.03.012. PMID: 31047295

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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