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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

Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
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
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
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

Diagnosis

Daich Varela M, Wong SW, Kiray G, Schlottmann PG, Arno G, Shams ANA, Mahroo OA, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Dec;256:186-195. Epub 2023 Jul 7 doi: 10.1016/j.ajo.2023.06.026. PMID: 37422204Free PMC Article
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
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
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

Therapy

Lam BL, Pennesi ME, Kay CN, Panda S, Gow JA, Zhao G, MacLaren RE; XIRIUS Study Group
Ophthalmology 2024 Sep;131(9):1083-1093. Epub 2024 Feb 28 doi: 10.1016/j.ophtha.2024.02.023. PMID: 38423215
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free 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

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
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF
Int J Mol Sci 2021 Dec 10;22(24) doi: 10.3390/ijms222413294. PMID: 34948090Free PMC Article
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
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article

Clinical prediction guides

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
Surl D, Won D, Lee ST, Lee CS, Lee J, Lim HT, Chung SA, Song WK, Kim M, Kim SS, Shin S, Choi JR, Sangermano R, Byeon SH, Bujakowska KM, Han J
JAMA Netw Open 2024 May 1;7(5):e2414198. doi: 10.1001/jamanetworkopen.2024.14198. PMID: 38819824Free PMC Article
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free 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
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free 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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