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Retinitis pigmentosa 40(RP40)

MedGen UID:
462457
Concept ID:
C3151107
Disease or Syndrome
Synonym: RP40
 
Gene (location): PDE6B (4p16.3)
 
Monarch Initiative: MONDO:0013429
OMIM®: 613801

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. [from MONDO]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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).
Abnormal light- and dark-adapted electroretinogram
MedGen UID:
462461
Concept ID:
C3151111
Finding
An abnormality of the combined rod-and-cone response on electroretinogram.
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

Arslan U, Özmert E
Adv Ther 2020 May;37(5):2390-2412. Epub 2020 Apr 18 doi: 10.1007/s12325-020-01308-y. PMID: 32303913

Recent clinical studies

Etiology

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
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
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J
Eur J Hum Genet 2014 Jan;22(1):99-104. Epub 2013 Apr 17 doi: 10.1038/ejhg.2013.72. PMID: 23591405Free PMC Article
Jaeken J
Handb Clin Neurol 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7. PMID: 23622397
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I
Hum Mutat 2020 Jan;41(1):140-149. Epub 2019 Sep 15 doi: 10.1002/humu.23903. PMID: 31456290
Creel DJ
Handb Clin Neurol 2019;160:481-493. doi: 10.1016/B978-0-444-64032-1.00032-1. PMID: 31277870
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Daich Varela M, Georgiadis A, Michaelides M
Br J Ophthalmol 2023 Sep;107(9):1223-1230. Epub 2022 Aug 29 doi: 10.1136/bjo-2022-321903. PMID: 36038193
Battaglini L, Di Ponzio M, Ghiani A, Mena F, Santacesaria P, Casco C
Restor Neurol Neurosci 2022;40(3):137-168. doi: 10.3233/RNN-221261. PMID: 35964213
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium
JAMA Ophthalmol 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649Free PMC Article
Liu K, Wang L
Bosn J Basic Med Sci 2019 Nov 8;19(4):321-327. doi: 10.17305/bjbms.2019.4114. PMID: 30995901Free PMC Article
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Prognosis

Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K
Genes (Basel) 2023 Sep 26;14(10) doi: 10.3390/genes14101869. PMID: 37895218Free PMC Article
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY
Sci Rep 2020 Nov 11;10(1):19540. doi: 10.1038/s41598-020-75902-z. PMID: 33177553Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Clinical prediction guides

Watanabe K, Aouadj C, Hiratsuka Y, Yamamoto S, Murakami A
Adv Ther 2023 May;40(5):2375-2393. Epub 2023 Mar 22 doi: 10.1007/s12325-023-02446-9. PMID: 36947329Free PMC Article
Yoon CK, Bae K, Yu HG
Am J Ophthalmol 2022 Sep;241:149-159. Epub 2022 May 9 doi: 10.1016/j.ajo.2022.05.002. PMID: 35551907
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY
Sci Rep 2020 Nov 11;10(1):19540. doi: 10.1038/s41598-020-75902-z. PMID: 33177553Free PMC Article
Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP
Cells 2020 Apr 10;9(4) doi: 10.3390/cells9040931. PMID: 32290105Free PMC Article
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article

Recent systematic reviews

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
Pur DR, Lee-Wing N, Bona MD
Graefes Arch Clin Exp Ophthalmol 2023 Jun;261(6):1743-1755. Epub 2023 Jan 12 doi: 10.1007/s00417-022-05972-4. PMID: 36633669
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642

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