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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

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

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, Boon CJF
Genes (Basel) 2021 Sep 11;12(9) doi: 10.3390/genes12091404. PMID: 34573385Free 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
Bardet Biedl syndrome: motile ciliary phenotype.
Shoemark A, Dixon M, Beales PL, Hogg CL
Chest 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913. PMID: 25317630
Age at onset curves of retinitis pigmentosa.
Tsujikawa M, Wada Y, Sukegawa M, Sawa M, Gomi F, Nishida K, Tano Y
Arch Ophthalmol 2008 Mar;126(3):337-40. doi: 10.1001/archopht.126.3.337. PMID: 18332312
Decreased retinal blood flow in retinitis pigmentosa.
Akyol N, Kükner S, Celiker U, Koyu H, Lüleci C
Can J Ophthalmol 1995 Feb;30(1):28-32. PMID: 7780894

Diagnosis

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium
Sci Rep 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. PMID: 38594301Free PMC Article
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
Unilateral retinitis pigmentosa associated with cystoid macular oedema.
Mishra C, Sen S, Kannan NB, Ramasamy K
Natl Med J India 2023 May-Jun;36(3):170-172. doi: 10.25259/NMJI_651_20. PMID: 38692617
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
Bardet Biedl syndrome: motile ciliary phenotype.
Shoemark A, Dixon M, Beales PL, Hogg CL
Chest 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913. PMID: 25317630

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
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
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.
Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S
Proc Natl Acad Sci U S A 2017 Sep 5;114(36):9695-9700. Epub 2017 Aug 23 doi: 10.1073/pnas.1708894114. PMID: 28835534Free PMC Article
The Argus™ II retinal prosthesis: factors affecting patient selection for implantation.
Ahuja AK, Behrend MR
Prog Retin Eye Res 2013 Sep;36:1-23. Epub 2013 Mar 14 doi: 10.1016/j.preteyeres.2013.01.002. PMID: 23500412
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

Prognosis

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
Dexamethasone Implant Produces Better Outcomes than Oral Acetazolamide in Patients with Cystoid Macular Edema Secondary to Retinitis Pigmentosa.
Veritti D, Sarao V, De Nadai K, Chizzolini M, Parmeggiani F, Perissin L, Lanzetta P
J Ocul Pharmacol Ther 2020 Apr;36(3):190-197. Epub 2019 Dec 30 doi: 10.1089/jop.2018.0153. PMID: 31886707
Outcomes of Ahmed glaucoma valve implantation for steroid-induced elevated intraocular pressure in patients with retinitis pigmentosa.
Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R
Hum Genet 2015 Feb;134(2):217-30. Epub 2014 Dec 4 doi: 10.1007/s00439-014-1512-7. PMID: 25472526Free 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

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
The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy.
Nanda A, McClements ME, Clouston P, Shanks ME, MacLaren RE
Am J Ophthalmol 2019 Jun;202:23-29. Epub 2019 Feb 4 doi: 10.1016/j.ajo.2019.01.027. PMID: 30731082
fMRI evidence of improved visual function in patients with progressive retinitis pigmentosa by eye-movement training.
Yoshida M, Origuchi M, Urayama S, Takatsuki A, Kan S, Aso T, Shiose T, Sawamoto N, Miyauchi S, Fukuyama H, Seiyama A
Neuroimage Clin 2014;5:161-8. Epub 2014 Feb 26 doi: 10.1016/j.nicl.2014.02.007. PMID: 25068106Free PMC Article
Visual acuity and retinal function in patients with Bardet-Biedl syndrome.
Berezovsky A, Rocha DM, Sacai PY, Watanabe SS, Cavascan NN, Salomão SR
Clinics (Sao Paulo) 2012;67(2):145-9. doi: 10.6061/clinics/2012(02)09. PMID: 22358239Free 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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    • 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
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