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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

Thenappan A
Methods Mol Biol 2023;2560:353-361. doi: 10.1007/978-1-0716-2651-1_32. PMID: 36481910
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
Fahim A
Curr Opin Pediatr 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647

Recent clinical studies

Etiology

Monavarfeshani A, Yan W, Pappas C, Odenigbo KA, He Z, Segrè AV, van Zyl T, Hageman GS, Sanes JR
Proc Natl Acad Sci U S A 2023 Aug 22;120(34):e2306153120. Epub 2023 Aug 11 doi: 10.1073/pnas.2306153120. PMID: 37566633Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Fahim A
Curr Opin Pediatr 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647
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
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Diagnosis

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free 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
Fahim A
Curr Opin Pediatr 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647
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
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

Therapy

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
Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
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
Luo YH, da Cruz L
Prog Retin Eye Res 2016 Jan;50:89-107. Epub 2015 Sep 25 doi: 10.1016/j.preteyeres.2015.09.003. PMID: 26404104

Prognosis

Nam DW, Song YK, Kim JH, Lee EK, Park KH, Cha J, Choi BY, Lee JH, Oh SH, Jo DH, Lee SY
Sci Rep 2023 Nov 19;13(1):20239. doi: 10.1038/s41598-023-47166-w. PMID: 37981655Free PMC Article
Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free 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
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article
Hamel CP
Orphanet J Rare Dis 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7. PMID: 17270046Free PMC Article

Clinical prediction guides

Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free 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
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
Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA
Semin Ophthalmol 2016;31(1-2):49-52. doi: 10.3109/08820538.2015.1114856. PMID: 26959129Free PMC Article
Shastry BS
Am J Med Genet 1994 Oct 1;52(4):467-74. doi: 10.1002/ajmg.1320520413. PMID: 7747760

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
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
Geltzer A, Turalba A, Vedula SS
Cochrane Database Syst Rev 2013 Jan 31;1(1):CD005022. doi: 10.1002/14651858.CD005022.pub3. PMID: 23440797Free PMC Article

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