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Retinitis pigmentosa 36(RP36)

MedGen UID:
351175
•Concept ID:
C1864621
•
Disease or Syndrome
Synonyms: RP 36; RP36
 
Gene (location): PRCD (17q25.1)
 
Monarch Initiative: MONDO:0012523
OMIM®: 610599

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD 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
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
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Undetectable electroretinogram
MedGen UID:
383742
•Concept ID:
C1855685
•
Finding
Lack of any response to stimulation upon electroretinography.
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

Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kelbsch C, Kohl S, Kortüm FC, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K
Br J Ophthalmol 2022 Jun;106(6):831-838. Epub 2021 Jan 20 doi: 10.1136/bjophthalmol-2020-318286. PMID: 33472769Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H
Hum Mutat 2012 Jun;33(6):963-72. Epub 2012 Mar 19 doi: 10.1002/humu.22045. PMID: 22334370Free PMC Article

Recent clinical studies

Etiology

Plasma Antiretinal Autoantibody Profiling and Diagnostic Efficacy in Patients With Autoimmune Retinopathy.
Bae SH, Hong HK, Lee JY, Kim MS, Lee CS, Sagong M, Kim SY, Oh BL, Yoon YH, Shin JP, Jo YJ, Joo K, Park SJ, Park KH, Woo SJ
Am J Ophthalmol 2023 Jan;245:145-154. Epub 2022 Jul 16 doi: 10.1016/j.ajo.2022.07.005. PMID: 35853491
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039Free PMC Article
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH
Pharm Res 2019 Jan 7;36(2):34. doi: 10.1007/s11095-018-2564-5. PMID: 30617669Free PMC Article
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free 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

Diagnosis

Mitochondrial DNA mutations in renal disease: an overview.
Govers LP, Toka HR, Hariri A, Walsh SB, Bockenhauer D
Pediatr Nephrol 2021 Jan;36(1):9-17. Epub 2020 Jan 10 doi: 10.1007/s00467-019-04404-6. PMID: 31925537Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Research progress on human genes involved in the pathogenesis of glaucoma (Review).
Wang HW, Sun P, Chen Y, Jiang LP, Wu HP, Zhang W, Gao F
Mol Med Rep 2018 Jul;18(1):656-674. Epub 2018 May 23 doi: 10.3892/mmr.2018.9071. PMID: 29845210Free PMC Article
Using magnetic resonance imaging to assess visual deficits: a review.
Brown HD, Woodall RL, Kitching RE, Baseler HA, Morland AB
Ophthalmic Physiol Opt 2016 May;36(3):240-65. doi: 10.1111/opo.12293. PMID: 27112223Free 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

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
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.
Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Talsma HE, Florijn RJ, Ten Brink JB, Cremers FPM, Thiadens AAHJ, van den Born LI, Hoyng CB, Meester-Smoor MA, Bergen AA, Boon CJF
Acta Ophthalmol 2021 May;99(3):e402-e414. Epub 2021 Feb 2 doi: 10.1111/aos.14597. PMID: 33528094Free PMC Article
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH
Pharm Res 2019 Jan 7;36(2):34. doi: 10.1007/s11095-018-2564-5. PMID: 30617669Free PMC Article
Assessment of the Electronic Retinal Implant Alpha AMS in Restoring Vision to Blind Patients with End-Stage Retinitis Pigmentosa.
Edwards TL, Cottriall CL, Xue K, Simunovic MP, Ramsden JD, Zrenner E, MacLaren RE
Ophthalmology 2018 Mar;125(3):432-443. Epub 2017 Oct 27 doi: 10.1016/j.ophtha.2017.09.019. PMID: 29110946Free PMC Article
Nanomedicines for back of the eye drug delivery, gene delivery, and imaging.
Kompella UB, Amrite AC, Pacha Ravi R, Durazo SA
Prog Retin Eye Res 2013 Sep;36:172-98. Epub 2013 Apr 17 doi: 10.1016/j.preteyeres.2013.04.001. PMID: 23603534Free PMC Article

Prognosis

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults.
Chaumet-Riffaud AE, Chaumet-Riffaud P, Cariou A, Devisme C, Audo I, Sahel JA, Mohand-Said S
Am J Ophthalmol 2017 May;177:169-174. Epub 2017 Feb 22 doi: 10.1016/j.ajo.2017.02.016. PMID: 28237413
Ophthalmological manifestations in patients with Leigh syndrome.
Han J, Lee YM, Kim SM, Han SY, Lee JB, Han SH
Br J Ophthalmol 2015 Apr;99(4):528-35. Epub 2014 Oct 28 doi: 10.1136/bjophthalmol-2014-305704. PMID: 25351680
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
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey.
Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, Hagopian E, Pomeroy J, Haqq AM
Orphanet J Rare Dis 2023 Jul 7;18(1):182. doi: 10.1186/s13023-023-02723-4. PMID: 37415189Free PMC Article
Plasma Antiretinal Autoantibody Profiling and Diagnostic Efficacy in Patients With Autoimmune Retinopathy.
Bae SH, Hong HK, Lee JY, Kim MS, Lee CS, Sagong M, Kim SY, Oh BL, Yoon YH, Shin JP, Jo YJ, Joo K, Park SJ, Park KH, Woo SJ
Am J Ophthalmol 2023 Jan;245:145-154. Epub 2022 Jul 16 doi: 10.1016/j.ajo.2022.07.005. PMID: 35853491
Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.
Gill JS, Theofylaktopoulos V, Mitsios A, Houston S, Hagag AM, Dubis AM, Moosajee M
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084198. PMID: 35457016Free PMC Article
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z, Li S, Wang S, Xiao X, Sun W, Zhang Q
Eye (Lond) 2022 Dec;36(12):2279-2285. Epub 2021 Nov 26 doi: 10.1038/s41433-021-01853-y. PMID: 34837036Free PMC Article

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Cost-of-illness studies of inherited retinal diseases: a systematic review.
Ng QX, Ong C, Yaow CYL, Chan HW, Thumboo J, Wang Y, Koh GCH
Orphanet J Rare Dis 2024 Feb 29;19(1):93. doi: 10.1186/s13023-024-03099-9. PMID: 38424595Free PMC Article
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

Supplemental Content

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • 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 (Bookshelf cited)
      Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
    • PubMed (GeneReviews)
      GeneReviews in PubMed

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