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Retinitis pigmentosa 42(RP42)

MedGen UID:
442864
Concept ID:
C2751986
Disease or Syndrome
Synonym: RP42
 
Gene (location): KLHL7 (7p15.3)
 
Monarch Initiative: MONDO:0013052
OMIM®: 612943

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. [from MONDO]

Clinical features

From HPO
Cystoid macular edema
MedGen UID:
7435
Concept ID:
C0024440
Disease or Syndrome
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Peripapillary atrophy
MedGen UID:
473480
Concept ID:
C1719838
Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
Concept ID:
C4073099
Finding
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

Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R
Ophthalmic Genet 2022 Oct;43(5):633-640. Epub 2022 Jul 7 doi: 10.1080/13816810.2022.2096243. PMID: 35796432
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Drug Ther Bull 1980 May 23;18(11):42-3. PMID: 7389580

Recent clinical studies

Etiology

Battaglia Parodi M, Arrigo A, Aragona E, Pina A, Bandello F
Eur J Ophthalmol 2024 Nov;34(6):1975-1978. Epub 2024 Feb 8 doi: 10.1177/11206721241232450. PMID: 38332612Free PMC Article
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209
Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R
Br J Ophthalmol 2021 May;105(5):694-703. Epub 2020 Jul 16 doi: 10.1136/bjophthalmol-2019-315786. PMID: 32675063
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Diagnosis

Battaglia Parodi M, Arrigo A, Aragona E, Pina A, Bandello F
Eur J Ophthalmol 2024 Nov;34(6):1975-1978. Epub 2024 Feb 8 doi: 10.1177/11206721241232450. PMID: 38332612Free PMC Article
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443
Krill AE
Sight Sav Rev 1972 Spring;42(1):21-8. PMID: 4555922

Therapy

Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209
Shoemark A, Harman K
Semin Respir Crit Care Med 2021 Aug;42(4):537-548. Epub 2021 Jul 14 doi: 10.1055/s-0041-1730919. PMID: 34261178
Bertolotti E, Neri A, Camparini M, Macaluso C, Marigo V
Prog Retin Eye Res 2014 Sep;42:130-44. Epub 2014 Jun 13 doi: 10.1016/j.preteyeres.2014.06.002. PMID: 24933042
MacDonald IM, Sauvé Y, Sieving PA
Can J Ophthalmol 2007 Jun;42(3):399-402. PMID: 17508034

Prognosis

Daich Varela M, Conti GM, Malka S, Vaclavik V, Mahroo OA, Webster AR, Tran V, Michaelides M
Ophthalmology 2023 Dec;130(12):1327-1335. Epub 2023 Aug 5 doi: 10.1016/j.ophtha.2023.07.027. PMID: 37544434Free PMC Article
Shimokawa S, Murakami Y, Fujiwara K, Funatsu J, Nakatake S, Koyanagi Y, Akiyama M, Yoshida N, Takeda A, Ikeda Y, Sonoda KH
Retina 2022 Jan 1;42(1):168-173. doi: 10.1097/IAE.0000000000003286. PMID: 34393209
Benson MD, Plemel DJA, Freund PR, Lewis JR, Sass JO, Bähr L, Gemperle-Britschgi C, Ferreira P, MacDonald IM
Ophthalmic Genet 2021 Feb;42(1):75-78. Epub 2020 Sep 25 doi: 10.1080/13816810.2020.1827441. PMID: 32975148
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
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O
Hum Mutat 2008 Mar;29(3):451. doi: 10.1002/humu.9524. PMID: 18273898

Clinical prediction guides

Battaglia Parodi M, Arrigo A, Aragona E, Pina A, Bandello F
Eur J Ophthalmol 2024 Nov;34(6):1975-1978. Epub 2024 Feb 8 doi: 10.1177/11206721241232450. PMID: 38332612Free PMC Article
Hanany M, Shalom S, Ben-Yosef T, Sharon D
Cold Spring Harb Perspect Med 2024 Feb 1;14(2) doi: 10.1101/cshperspect.a041277. PMID: 37460155Free PMC Article
Dong L, He W, Zhang R, Ge Z, Wang YX, Zhou J, Xu J, Shao L, Wang Q, Yan Y, Xie Y, Fang L, Wang H, Wang Y, Zhu X, Wang J, Zhang C, Wang H, Wang Y, Chen R, Wan Q, Yang J, Zhou W, Li H, Yao X, Yang Z, Xiong J, Wang X, Huang Y, Chen Y, Wang Z, Rong C, Gao J, Zhang H, Wu S, Jonas JB, Wei WB
JAMA Netw Open 2022 May 2;5(5):e229960. doi: 10.1001/jamanetworkopen.2022.9960. PMID: 35503220Free PMC Article
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2021 Feb 27;22(5) doi: 10.3390/ijms22052374. PMID: 33673512Free PMC Article
Lolak N, Akocak S, Bua S, Koca M, Supuran CT
Bioorg Chem 2018 Apr;77:542-547. Epub 2018 Feb 15 doi: 10.1016/j.bioorg.2018.02.015. PMID: 29462772

Recent systematic reviews

Lam BL, Scholl HPN, Doub D, Sperling M, Hashim M, Li N
Retina 2024 Jan 1;44(1):1-9. doi: 10.1097/IAE.0000000000003920. PMID: 37683184
Sobh M, Lagali PS, Ghiasi M, Montroy J, Dollin M, Hurley B, Leonard BC, Dimopoulos I, Lafreniere M, Fergusson DA, Lalu MM, Tsilfidis C
Transl Vis Sci Technol 2023 Nov 1;12(11):24. doi: 10.1167/tvst.12.11.24. PMID: 37982768Free 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
Cheng DL, Greenberg PB, Borton DA
Curr Eye Res 2017 Mar;42(3):334-347. Epub 2017 Feb 26 doi: 10.1080/02713683.2016.1270326. PMID: 28362177

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