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Retinitis pigmentosa 70(RP70)

MedGen UID:
863118
Concept ID:
C4014681
Disease or Syndrome
Synonym: RP70
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PRPF4 (9q32)
 
OMIM®: 615922

Clinical features

From HPO
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Nyctalopia
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
Degeneration of the retina.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Arslan U
Lasers Med Sci 2021 Mar;36(2):317-323. Epub 2020 May 4 doi: 10.1007/s10103-020-03031-0. PMID: 32363437
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA
Br J Ophthalmol 2019 Nov;103(11):1595-1599. Epub 2019 Jan 31 doi: 10.1136/bjophthalmol-2018-313669. PMID: 30705041
Anil K, Garip G
BMC Ophthalmol 2018 Jan 30;18(1):21. doi: 10.1186/s12886-018-0689-2. PMID: 29378559Free PMC Article
Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S
Congenit Anom (Kyoto) 2018 Jan;58(1):10-15. Epub 2017 May 28 doi: 10.1111/cga.12225. PMID: 28419563

Diagnosis

Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free PMC Article
Arslan U
Lasers Med Sci 2021 Mar;36(2):317-323. Epub 2020 May 4 doi: 10.1007/s10103-020-03031-0. PMID: 32363437
Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA
Br J Ophthalmol 2019 Nov;103(11):1595-1599. Epub 2019 Jan 31 doi: 10.1136/bjophthalmol-2018-313669. PMID: 30705041
Daiger SP, Bowne SJ, Sullivan LS, Branham K, Wheaton DK, Jones KD, Avery CE, Cadena ED, Heckenlively JR, Birch DG
Adv Exp Med Biol 2018;1074:237-245. doi: 10.1007/978-3-319-75402-4_29. PMID: 29721949Free PMC Article
Anil K, Garip G
BMC Ophthalmol 2018 Jan 30;18(1):21. doi: 10.1186/s12886-018-0689-2. PMID: 29378559Free PMC Article

Therapy

Arslan U
Lasers Med Sci 2021 Mar;36(2):317-323. Epub 2020 May 4 doi: 10.1007/s10103-020-03031-0. PMID: 32363437
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article
Arslan U, Özmert E, Demirel S, Örnek F, Şermet F
Graefes Arch Clin Exp Ophthalmol 2018 May;256(5):893-908. Epub 2018 Mar 15 doi: 10.1007/s00417-018-3953-5. PMID: 29546474
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ
Prog Retin Eye Res 2018 Mar;63:107-131. Epub 2017 Oct 31 doi: 10.1016/j.preteyeres.2017.10.004. PMID: 29097191

Prognosis

Hagag AM, Wang J, Lu K, Harman G, Weleber RG, Huang D, Yang P, Pennesi ME, Jia Y
Am J Ophthalmol 2019 Aug;204:70-79. Epub 2019 Mar 6 doi: 10.1016/j.ajo.2019.02.034. PMID: 30849344Free PMC Article
Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD
Invest Ophthalmol Vis Sci 2017 Sep 1;58(11):4457-4466. doi: 10.1167/iovs.17-22077. PMID: 28863407
Sugahara M, Oishi M, Oishi A, Ogino K, Morooka S, Gotoh N, Kang I, Yoshimura N
Ophthalmic Genet 2017 Jan-Feb;38(1):70-73. Epub 2016 Mar 30 doi: 10.3109/13816810.2015.1136336. PMID: 27028480
Claeys KG, Abicht A, Häusler M, Kleinle S, Wiesmann M, Schulz JB, Horvath R, Weis J
Muscle Nerve 2016 Aug;54(2):328-33. doi: 10.1002/mus.25125. PMID: 27015314

Clinical prediction guides

Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH
Sci Rep 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. PMID: 32098976Free PMC Article
Iftikhar M, Lemus M, Usmani B, Campochiaro PA, Sahel JA, Scholl HPN, Shah SMA
Br J Ophthalmol 2019 Nov;103(11):1595-1599. Epub 2019 Jan 31 doi: 10.1136/bjophthalmol-2018-313669. PMID: 30705041
Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M
Graefes Arch Clin Exp Ophthalmol 2019 Feb;257(2):265-271. Epub 2018 Nov 19 doi: 10.1007/s00417-018-4185-4. PMID: 30456418
Arslan U, Özmert E, Demirel S, Örnek F, Şermet F
Graefes Arch Clin Exp Ophthalmol 2018 May;256(5):893-908. Epub 2018 Mar 15 doi: 10.1007/s00417-018-3953-5. PMID: 29546474

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