U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Retinitis pigmentosa 70(RP70)

MedGen UID:
863118
•Concept ID:
C4014681
•
Disease or Syndrome
Synonym: RP70
 
Gene (location): PRPF4 (9q32)
 
Monarch Initiative: MONDO:0014400
OMIM®: 615922

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. [from MONDO]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Retinal degeneration
MedGen UID:
48432
•Concept ID:
C0035304
•
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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
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

Experiences of genetic testing among individuals with retinitis pigmentosa.
Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R
Ophthalmic Genet 2022 Oct;43(5):633-640. Epub 2022 Jul 7 doi: 10.1080/13816810.2022.2096243. PMID: 35796432
Prevalence of primary angle-closure disease in retinitis pigmentosa.
Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL
Indian J Ophthalmol 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. PMID: 35791130Free PMC Article
Current Pharmacological Concepts in the Treatment of the Retinitis Pigmentosa.
Huang XF
Adv Exp Med Biol 2018;1074:439-445. doi: 10.1007/978-3-319-75402-4_54. PMID: 29721974

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
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T
Adv Exp Med Biol 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. PMID: 30578505
Current Pharmacological Concepts in the Treatment of the Retinitis Pigmentosa.
Huang XF
Adv Exp Med Biol 2018;1074:439-445. doi: 10.1007/978-3-319-75402-4_54. PMID: 29721974
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free PMC Article

Diagnosis

Approach to inherited retinal diseases.
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free PMC Article
Posterior staphyloma in pathologic myopia.
Ohno-Matsui K, Jonas JB
Prog Retin Eye Res 2019 May;70:99-109. Epub 2018 Dec 8 doi: 10.1016/j.preteyeres.2018.12.001. PMID: 30537538
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free PMC Article

Therapy

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
Management of retinitis pigmentosa by Wharton's jelly-derived mesenchymal stem cells: prospective analysis of 1-year results.
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Current Pharmacological Concepts in the Treatment of the Retinitis Pigmentosa.
Huang XF
Adv Exp Med Biol 2018;1074:439-445. doi: 10.1007/978-3-319-75402-4_54. PMID: 29721974
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives.
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ
Prog Retin Eye Res 2018 Mar;63:107-131. Epub 2017 Oct 31 doi: 10.1016/j.preteyeres.2017.10.004. PMID: 29097191
Phenothiazine-retinopathy.
Alkemade PP
Ophthalmologica 1968;155(1):70-6. doi: 10.1159/000305340. PMID: 5647013

Prognosis

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
Approach to inherited retinal diseases.
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Retinal oximetry: Metabolic imaging for diseases of the retina and brain.
Stefánsson E, Olafsdottir OB, Eliasdottir TS, Vehmeijer W, Einarsdottir AB, Bek T, Torp TL, Grauslund J, Eysteinsson T, Karlsson RA, Van Keer K, Stalmans I, Vandewalle E, Todorova MG, Hammer M, Garhöfer G, Schmetterer L, Šín M, Hardarson SH
Prog Retin Eye Res 2019 May;70:1-22. Epub 2019 Apr 15 doi: 10.1016/j.preteyeres.2019.04.001. PMID: 30999027
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C
Ophthalmology 2013 Nov;120(11):2332-7. Epub 2013 Jun 4 doi: 10.1016/j.ophtha.2013.04.002. PMID: 23755871Free PMC Article

Clinical prediction guides

Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. PMID: 38088826Free PMC Article
Approach to inherited retinal diseases.
Ratra D, Ozdek S, Raviselvan M, Elchuri S, Sharma T
Indian J Ophthalmol 2022 Jul;70(7):2305-2315. doi: 10.4103/ijo.IJO_314_22. PMID: 35791111Free PMC Article
Retinal oximetry: Metabolic imaging for diseases of the retina and brain.
Stefánsson E, Olafsdottir OB, Eliasdottir TS, Vehmeijer W, Einarsdottir AB, Bek T, Torp TL, Grauslund J, Eysteinsson T, Karlsson RA, Van Keer K, Stalmans I, Vandewalle E, Todorova MG, Hammer M, Garhöfer G, Schmetterer L, Šín M, Hardarson SH
Prog Retin Eye Res 2019 May;70:1-22. Epub 2019 Apr 15 doi: 10.1016/j.preteyeres.2019.04.001. PMID: 30999027
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
The electroretinogram in retinitis pigmentosa.
Marmor MF
Arch Ophthalmol 1979 Jul;97(7):1300-4. doi: 10.1001/archopht.1979.01020020042009. PMID: 454267

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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...