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Retinitis pigmentosa 68(RP68)

MedGen UID:
816710
Concept ID:
C3810380
Disease or Syndrome
Synonym: RP68
 
Gene (location): SLC7A14 (3q26.2)
 
Monarch Initiative: MONDO:0014323
OMIM®: 615725

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Retinal atrophy
MedGen UID:
101075
Concept ID:
C0521694
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
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).
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.
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

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833
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

Recent clinical studies

Etiology

Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833
Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S
Semin Ophthalmol 2022 Apr 3;37(3):284-290. Epub 2021 Aug 17 doi: 10.1080/08820538.2021.1957126. PMID: 34404308
Lunghi C, Galli-Resta L, Binda P, Cicchini GM, Placidi G, Falsini B, Morrone MC
Invest Ophthalmol Vis Sci 2019 Jun 3;60(7):2753-2763. doi: 10.1167/iovs.18-25750. PMID: 31247082Free PMC Article

Diagnosis

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Wang DD, Gao FJ, Hu FY, Cao WJ, Xu P, Huang Y, Sun XH, Wu JH
Curr Eye Res 2022 Sep;47(9):1339-1345. Epub 2022 Aug 3 doi: 10.1080/02713683.2022.2085303. PMID: 35924323
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833
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
Lunghi C, Galli-Resta L, Binda P, Cicchini GM, Placidi G, Falsini B, Morrone MC
Invest Ophthalmol Vis Sci 2019 Jun 3;60(7):2753-2763. doi: 10.1167/iovs.18-25750. PMID: 31247082Free PMC Article

Therapy

Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE
JAMA Ophthalmol 2020 Nov 1;138(11):1151-1158. doi: 10.1001/jamaophthalmol.2020.3634. PMID: 32970112Free 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
Zong Y, Lin L, Yi C, Huang X, Fu Y, Dong Y, Qian X, Li Y, Gao Q
Graefes Arch Clin Exp Ophthalmol 2016 Feb;254(2):243-52. Epub 2015 May 8 doi: 10.1007/s00417-015-3039-6. PMID: 25952041
Han Z, Conley SM, Naash MI
Adv Exp Med Biol 2014;801:719-24. doi: 10.1007/978-1-4614-3209-8_90. PMID: 24664763
Jackson G, Montorsi P, Cheitlin MD
Urology 2006 Sep;68(3 Suppl):47-60. doi: 10.1016/j.urology.2006.05.047. PMID: 17011375

Prognosis

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
Omoto T, Oishi A, Asaoka R, Fujino Y, Murata H, Azuma K, Miyata M, Obata R, Inoue T
Sci Rep 2021 May 6;11(1):9671. doi: 10.1038/s41598-021-89233-0. PMID: 33958698Free PMC Article
Nishiguchi KM, Yokoyama Y, Kunikata H, Abe T, Nakazawa T
Br J Ophthalmol 2019 Apr;103(4):475-480. Epub 2018 Jun 1 doi: 10.1136/bjophthalmol-2018-312225. PMID: 29858180

Clinical prediction guides

Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833
Omoto T, Oishi A, Asaoka R, Fujino Y, Murata H, Azuma K, Miyata M, Obata R, Inoue T
Sci Rep 2021 May 6;11(1):9671. doi: 10.1038/s41598-021-89233-0. PMID: 33958698Free PMC Article
Fernández-Nogales M, Murcia-Belmonte V, Chen HY, Herrera E
Prog Retin Eye Res 2019 Jan;68:110-123. Epub 2018 Sep 8 doi: 10.1016/j.preteyeres.2018.09.001. PMID: 30201383Free PMC Article

Recent systematic reviews

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
Zafar S, Ahmad K, Ali A, Baig R
J Pak Med Assoc 2017 Nov;67(11):1734-1739. PMID: 29171570

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