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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.
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.
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).
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ozmert E, Arslan U
Stem Cells Transl Med 2023 Oct 5;12(10):631-650. doi: 10.1093/stcltm/szad051. PMID: 37713598Free PMC Article
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
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

Matsevich C, Gopalakrishnan P, Chang N, Obolensky A, Beryozkin A, Salameh M, Kostic C, Sharon D, Arsenijevic Y, Banin E
Mol Ther 2023 Oct 4;31(10):2948-2961. Epub 2023 Aug 14 doi: 10.1016/j.ymthe.2023.08.011. PMID: 37580905Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
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
Vingolo EM, Limoli PG, Steigerwalt RDJ, Carlesimo SC, Salvatore S
Int Ophthalmol 2020 Jan;40(1):179-184. Epub 2019 Aug 28 doi: 10.1007/s10792-019-01166-w. PMID: 31463623
Fragiotta S, Rossi T, Carnevale C, Cutini A, Tricarico S, Casillo L, Scuderi G, Vingolo EM
Graefes Arch Clin Exp Ophthalmol 2019 Oct;257(10):2137-2146. Epub 2019 Jul 19 doi: 10.1007/s00417-019-04418-8. PMID: 31324966

Diagnosis

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
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
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
Huang X, Liu Y, Yu X, Huang Q, Lin C, Zeng J, Lan F, Wang Z
J Assist Reprod Genet 2019 May;36(5):989-994. Epub 2019 Mar 19 doi: 10.1007/s10815-019-01434-9. PMID: 30887160Free PMC Article
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

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
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Sinim Kahraman N, Oner A
J Ocul Pharmacol Ther 2020 Oct;36(8):609-617. Epub 2020 May 19 doi: 10.1089/jop.2020.0017. PMID: 32429728
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
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

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
Fragiotta S, Rossi T, Carnevale C, Cutini A, Tricarico S, Casillo L, Scuderi G, Vingolo EM
Graefes Arch Clin Exp Ophthalmol 2019 Oct;257(10):2137-2146. Epub 2019 Jul 19 doi: 10.1007/s00417-019-04418-8. PMID: 31324966
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
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
Grøndahl J
Clin Genet 1987 Apr;31(4):255-64. doi: 10.1111/j.1399-0004.1987.tb02804.x. PMID: 3594933

Clinical prediction guides

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
Kim DG, Joo K, Han J, Choi M, Kim SW, Park KH, Park SJ, Lee CS, Byeon SH, Woo SJ
Genes (Basel) 2023 May 8;14(5) doi: 10.3390/genes14051057. PMID: 37239417Free PMC Article
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
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
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

Recent systematic reviews

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
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

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