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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).
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
•Concept ID:
C4073099
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Experiences of genetic testing among individuals with retinitis pigmentosa.
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
Primary Ciliary Dyskinesia.
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
Management of retinitis pigmentosa.
Drug Ther Bull 1980 May 23;18(11):42-3. PMID: 7389580

Recent clinical studies

Etiology

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Linear streaks associated with retinitis pigmentosa.
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
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
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

Linear streaks associated with retinitis pigmentosa.
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
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Primary Ciliary Dyskinesia.
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
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
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
Retinitis pigmentosa: a review.
Krill AE
Sight Sav Rev 1972 Spring;42(1):21-8. PMID: 4555922

Therapy

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Primary Ciliary Dyskinesia.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Stem cells as source for retinal pigment epithelium transplantation.
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
Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants.
MacDonald IM, Sauvé Y, Sieving PA
Can J Ophthalmol 2007 Jun;42(3):399-402. PMID: 17508034

Prognosis

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
RECURRENCE RATE OF CYSTOID MACULAR EDEMA WITH TOPICAL DORZOLAMIDE TREATMENT AND ITS RISK FACTORS IN RETINITIS PIGMENTOSA.
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
Severe retinal degeneration in a patient with Canavan disease.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
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

Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL
Br J Ophthalmol 2025 Feb 24;109(3):383-390. doi: 10.1136/bjo-2024-325323. PMID: 39103200Free PMC Article
Linear streaks associated with retinitis pigmentosa.
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
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
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
Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.
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
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
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

Recent systematic reviews

A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR -ASSOCIATED X-LINKED RETINITIS PIGMENTOSA.
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
Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
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
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
A Systematic Review on Transplantation Studies of the Retinal Pigment Epithelium in Animal Models.
Koster C, Wever KE, Wagstaff EL, Hirk KTVD, Hooijmans CR, Bergen AA
Int J Mol Sci 2020 Apr 14;21(8) doi: 10.3390/ijms21082719. PMID: 32295315Free PMC Article

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      Clinical tests in GTR
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      Related Medical Subject Headings
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      Related records in OMIM
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