U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.
Ozmert E, Arslan U
Stem Cells Transl Med 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. PMID: 37713598Free 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
Treatment of Kearns-Sayre syndrome with coenzyme Q10.
Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S
Neurology 1986 Jan;36(1):45-53. doi: 10.1212/wnl.36.1.45. PMID: 3941783

Recent clinical studies

Etiology

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.
Zhang J, de Guimaraes TAC, Thompson D, Michaelides M
Retin Cases Brief Rep 2025 Mar 1;19(2):152-156. doi: 10.1097/ICB.0000000000001568. PMID: 38437796Free PMC Article
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report.
Tappel AC, Tiwari N, Zlotoff B
Pediatr Dermatol 2019 May;36(3):346-348. Epub 2019 Feb 22 doi: 10.1111/pde.13776. PMID: 30793792
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
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

Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
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
The eye involvement in monogenic autoinflammatory diseases: literature review and update.
Sota J, Vitale A, Fabiani C, Frediani B, Rigante D, Tosi GM, Zannin ME, Cantarini L
Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):44-53. Epub 2018 May 3 PMID: 29742057
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
Coats'-type retinitis pigmentosa.
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Therapy

Efficacy and safety of minocycline in retinitis pigmentosa: a prospective, open-label, single-arm trial.
Chen Y, Pan Y, Xie Y, Shi Y, Lu Y, Xia Y, Su W, Chen X, Li Z, Wang M, Miao S, Yang Y, Jin C, Luo G, Long S, Xiao H, Huang C, Zhang J, Liang D
Signal Transduct Target Ther 2024 Dec 4;9(1):339. doi: 10.1038/s41392-024-02037-2. PMID: 39627217Free PMC Article
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
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
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
An analysis of observer-rated functional vision in patients implanted with the Argus II Retinal Prosthesis System at three years.
Geruschat DR, Richards TP, Arditi A, da Cruz L, Dagnelie G, Dorn JD, Duncan JL, Ho AC, Olmos de Koo LC, Sahel JA, Stanga PE, Thumann G, Wang V, Greenberg RJ
Clin Exp Optom 2016 May;99(3):227-32. Epub 2016 Jan 24 doi: 10.1111/cxo.12359. PMID: 26804484Free PMC Article

Prognosis

Correlation between neutrophil-to-lymphocyte ratio and clinical manifestations and complications of retinitis pigmentosa.
He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
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
Causes of blindness and partial sight in the Bradford Metropolitan District from 1980 to 1985.
Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670
Coats'-type retinitis pigmentosa.
Khan JA, Ide CH, Strickland MP
Surv Ophthalmol 1988 Mar-Apr;32(5):317-32. doi: 10.1016/0039-6257(88)90094-x. PMID: 2457260

Clinical prediction guides

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.
Zhang J, de Guimaraes TAC, Thompson D, Michaelides M
Retin Cases Brief Rep 2025 Mar 1;19(2):152-156. doi: 10.1097/ICB.0000000000001568. PMID: 38437796Free PMC Article
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa.
Michaelides M, Besirli CG, Yang Y, DE Guimaraes TAC, Wong SC, Huckfeldt RM, Comander JI, Sahel JA, Shah SM, Tee JJL, Kumaran N, Georgiadis A, Minnick P, Zeldin R, Naylor S, Xu J, Clark M, Anglade E, Wong P, Fleck PR, Fung A, Peluso C, Kalitzeos A, Georgiou M, Ripamonti C, Smith AJ, Ali RR, Forbes A, Bainbridge J
Am J Ophthalmol 2024 Nov;267:122-134. Epub 2024 Jun 12 doi: 10.1016/j.ajo.2024.05.034. PMID: 38871269
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
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H, Chandrasekhar SP, Kandeeban S, Periyasamy P, Bhende M, Khetan V, Gupta N, Kabra M, Namboothri S, Sen P, Sripriya S
Clin Genet 2023 Oct;104(4):443-460. Epub 2023 Jul 11 doi: 10.1111/cge.14398. PMID: 37431782
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

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

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
    • 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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...