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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
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
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

Recent clinical studies

Etiology

Burstedt M, Whelan JH, Green JS, Holopigian K, Spera C, Greco E, Deslandes JY, Wald M, Grosskreutz C, Ni X, Normand G, Maker M, Charil A, Rosol M, He Y, Stasi K
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):42. doi: 10.1167/iovs.64.13.42. PMID: 37883093Free PMC Article
Garg A, Margolin E, Micieli JA
J Neuroophthalmol 2022 Mar 1;42(1):e225-e229. Epub 2021 Jul 27 doi: 10.1097/WNO.0000000000001340. PMID: 34334760
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I
Hum Mutat 2021 Jun;42(6):641-666. Epub 2021 May 16 doi: 10.1002/humu.24205. PMID: 33847019Free PMC Article
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
Baskys A
J Alzheimers Dis 2014;42 Suppl 3:S267-76. doi: 10.3233/JAD-140003. PMID: 25024308

Diagnosis

Burstedt M, Whelan JH, Green JS, Holopigian K, Spera C, Greco E, Deslandes JY, Wald M, Grosskreutz C, Ni X, Normand G, Maker M, Charil A, Rosol M, He Y, Stasi K
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):42. doi: 10.1167/iovs.64.13.42. PMID: 37883093Free 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
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
Haim M
Acta Ophthalmol Scand Suppl 2002;(233):1-34. doi: 10.1046/j.1395-3907.2002.00001.x. PMID: 11921605
Krill AE
Sight Sav Rev 1972 Spring;42(1):21-8. PMID: 4555922

Therapy

Birch DG, Bennett LD, Duncan JL, Weleber RG, Pennesi ME
Am J Ophthalmol 2016 Oct;170:10-14. Epub 2016 Jul 25 doi: 10.1016/j.ajo.2016.07.013. PMID: 27457255Free PMC Article
Peptu CA, Popa M, Savin C, Popa RF, Ochiuz L
Curr Pharm Des 2015;21(42):6055-69. doi: 10.2174/1381612821666151027151847. PMID: 26503152
Baskys A
J Alzheimers Dis 2014;42 Suppl 3:S267-76. doi: 10.3233/JAD-140003. PMID: 25024308
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

Čadonič K, Sajovic J, Hawlina M, Fakin A
Genes (Basel) 2023 Mar 5;14(3) doi: 10.3390/genes14030652. PMID: 36980924Free PMC Article
Garg A, Margolin E, Micieli JA
J Neuroophthalmol 2022 Mar 1;42(1):e225-e229. Epub 2021 Jul 27 doi: 10.1097/WNO.0000000000001340. PMID: 34334760
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D
Ophthalmic Genet 2021 Aug;42(4):365-374. Epub 2021 Apr 6 doi: 10.1080/13816810.2021.1904421. PMID: 33821751
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
Haim M
Acta Ophthalmol Scand Suppl 2002;(233):1-34. doi: 10.1046/j.1395-3907.2002.00001.x. PMID: 11921605

Clinical prediction guides

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
Burstedt M, Whelan JH, Green JS, Holopigian K, Spera C, Greco E, Deslandes JY, Wald M, Grosskreutz C, Ni X, Normand G, Maker M, Charil A, Rosol M, He Y, Stasi K
Invest Ophthalmol Vis Sci 2023 Oct 3;64(13):42. doi: 10.1167/iovs.64.13.42. PMID: 37883093Free PMC Article
Čadonič K, Sajovic J, Hawlina M, Fakin A
Genes (Basel) 2023 Mar 5;14(3) doi: 10.3390/genes14030652. PMID: 36980924Free 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
Bansal M, Acharya S, Sharma S, Phutela R, Rauthan R, Maiti S, Chakraborty D
Ophthalmic Genet 2021 Aug;42(4):365-374. Epub 2021 Apr 6 doi: 10.1080/13816810.2021.1904421. PMID: 33821751

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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