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Retinitis pigmentosa 30(RP30)

MedGen UID:
334614
Concept ID:
C1842816
Disease or Syndrome
Synonyms: RP 30; RP30
 
Gene (location): FSCN2 (17q25.3)
 
Monarch Initiative: MONDO:0011935
OMIM®: 607921

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 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.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
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).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Chorioretinal atrophy
MedGen UID:
884881
Concept ID:
C4048273
Disease or Syndrome
Atrophy of the choroid and retinal layers of the fundus.
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

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
Malinda RR
Eur J Hum Genet 2022 Nov;30(11):1203-1204. Epub 2022 Oct 28 doi: 10.1038/s41431-022-01187-7. PMID: 36319749Free PMC Article
Fahim A
Curr Opin Pediatr 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647

Recent clinical studies

Etiology

Eshel YM, Abaev O, Yahalom C
Eur J Ophthalmol 2024 Jul;34(4):986-991. Epub 2023 Nov 3 doi: 10.1177/11206721231212768. PMID: 37920903Free PMC Article
Patel TP, Vongsachang H, Schilling A, Kong X, Singh MS
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):26. doi: 10.1167/iovs.63.2.26. PMID: 35175279Free PMC Article
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free PMC Article
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Lindberg CR, Fishman GA, Anderson RJ, Vasquez V
Br J Ophthalmol 1981 Dec;65(12):855-8. doi: 10.1136/bjo.65.12.855. PMID: 7317333Free PMC Article

Diagnosis

Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ
Prog Retin Eye Res 2018 Sep;66:157-186. Epub 2018 Mar 27 doi: 10.1016/j.preteyeres.2018.03.005. PMID: 29597005
Kenny J, Forsythe E, Beales P, Bacchelli C
Per Med 2017 Sep;14(5):447-456. Epub 2017 Sep 4 doi: 10.2217/pme-2017-0019. PMID: 29754569
Daiger SP, Sullivan LS, Bowne SJ
Clin Genet 2013 Aug;84(2):132-41. Epub 2013 Jun 19 doi: 10.1111/cge.12203. PMID: 23701314Free PMC Article
Weale RA
Ophthalmologica 1974;169(1-3):30-7. doi: 10.1159/000307108. PMID: 4606571

Therapy

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
Kwan WC, Brunton EK, Begeng JM, Richardson RT, Ibbotson MR, Tong W
Annu Int Conf IEEE Eng Med Biol Soc 2023 Jul;2023:1-4. doi: 10.1109/EMBC40787.2023.10340849. PMID: 38083106
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Baghdadi M, Caldani S, Maudoux A, Audo I, Bucci MP, Wiener-Vacher SR
J Vestib Res 2020;30(4):275-282. doi: 10.3233/VES-200711. PMID: 32925128
Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z
Hum Mol Genet 2018 Jul 15;27(14):2563-2572. doi: 10.1093/hmg/ddy165. PMID: 29726989

Prognosis

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608Free PMC Article
Eshel YM, Abaev O, Yahalom C
Eur J Ophthalmol 2024 Jul;34(4):986-991. Epub 2023 Nov 3 doi: 10.1177/11206721231212768. PMID: 37920903Free PMC Article
Cevik S, Biswas SB, Biswas-Fiss EE
Int J Mol Sci 2023 Apr 14;24(8) doi: 10.3390/ijms24087280. PMID: 37108442Free PMC Article
Patel TP, Vongsachang H, Schilling A, Kong X, Singh MS
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):26. doi: 10.1167/iovs.63.2.26. PMID: 35175279Free PMC Article
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article

Clinical prediction guides

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
Kwan WC, Brunton EK, Begeng JM, Richardson RT, Ibbotson MR, Tong W
Annu Int Conf IEEE Eng Med Biol Soc 2023 Jul;2023:1-4. doi: 10.1109/EMBC40787.2023.10340849. PMID: 38083106
Geada S, Teixeira-Marques F, Teixeira B, Carvalho AL, Lousan N, Saraiva J, Murta J, Silva R, Zanlonghi X, Defoort-Dhellemmes S, Smirnov V, Dhaenens CM, Blanchet C, Meunier I, Marques JP
Genes (Basel) 2023 Mar 30;14(4) doi: 10.3390/genes14040830. PMID: 37107588Free PMC Article
Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K
Genes (Basel) 2021 Nov 18;12(11) doi: 10.3390/genes12111817. PMID: 34828423Free PMC Article
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM
Genet Med 2020 Jun;22(6):1079-1087. Epub 2020 Feb 10 doi: 10.1038/s41436-020-0759-8. PMID: 32037395Free PMC Article

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
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

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