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Retinitis pigmentosa 46(RP46)

MedGen UID:
382614
•Concept ID:
C2675496
•
Disease or Syndrome
Synonyms: RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED; RP46
 
Gene (location): IDH3B (20p13)
 
Monarch Initiative: MONDO:0012943
OMIM®: 612572

Definition

Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Clinical features

From HPO
Constriction of peripheral visual field
MedGen UID:
68613
•Concept ID:
C0235095
•
Finding
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
See: Feature record | Search on this feature
Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
See: Feature record | Search on this feature
Posterior subcapsular cataract
MedGen UID:
163646
•Concept ID:
C0858617
•
Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
See: Search on this feature
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
•Concept ID:
C1839025
•
Finding
Decreased amplitude of eletrical response upon electroretinography.
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
Visual impairment
MedGen UID:
777085
•Concept ID:
C3665347
•
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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
Pigmentary retinopathy
MedGen UID:
1643295
•Concept ID:
C4551715
•
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.
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
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P
PLoS One 2018;13(12):e0207958. Epub 2018 Dec 13 doi: 10.1371/journal.pone.0207958. PMID: 30543658Free PMC Article

Recent clinical studies

Etiology

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH
Sci Rep 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. PMID: 32098976Free PMC Article
VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA.
Vezinaw CM, Fishman GA, McAnany JJ
Retina 2020 Aug;40(8):1630-1633. doi: 10.1097/IAE.0000000000002649. PMID: 31568063

Diagnosis

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, Malka S, Wright G, Michaelides M, Mahroo OA, Webster AR, Arno G
Cells 2024 Jul 26;13(15) doi: 10.3390/cells13151261. PMID: 39120292Free PMC Article
Clinical presentation and macular morphology in retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Agweye CT, Victor U, Akanbi T
Ann Afr Med 2023 Oct-Dec;22(4):451-455. doi: 10.4103/aam.aam_181_22. PMID: 38358145Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population.
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
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium
J Am Soc Nephrol 2016 Jan;27(1):63-8. Epub 2015 May 12 doi: 10.1681/ASN.2014121240. PMID: 25967120Free PMC Article

Therapy

A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Grainok J, Pitout IL, Chen FK, McLenachan S, Heath Jeffery RC, Mitrpant C, Fletcher S
Int J Mol Sci 2024 Mar 16;25(6) doi: 10.3390/ijms25063391. PMID: 38542364Free PMC Article
Oral minocycline for the treatment of retinitis pigmentosa-associated cystoid macular edema: results of a phase I/II clinical trial.
Dave AD, Chen KG, Chiang TT, Singaravelu J, Alvarez JA, Wong WT, Cukras CA
Graefes Arch Clin Exp Ophthalmol 2023 Aug;261(8):2209-2220. Epub 2023 Mar 8 doi: 10.1007/s00417-023-05986-6. PMID: 36882562
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
von Krusenstiern L, Liu J, Liao E, Gow JA, Chen G, Ong T, Lotery AJ, Jalil A, Lam BL, MacLaren RE; XIRIUS Part 1 Study GroupXOLARIS Study Group
JAMA Ophthalmol 2023 Mar 1;141(3):275-283. doi: 10.1001/jamaophthalmol.2022.6254. PMID: 36757689Free PMC Article
TRANSCORNEAL ELECTRICAL STIMULATION THERAPY MAY HAVE A STABILIZATION EFFECT ON MULTIFOCAL ELECTRORETINOGRAPHY FOR PATIENTS WITH RETINITIS PIGMENTOSA.
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B
Klin Oczna 2008;110(4-6):203-6. PMID: 18655463

Prognosis

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, Malka S, Wright G, Michaelides M, Mahroo OA, Webster AR, Arno G
Cells 2024 Jul 26;13(15) doi: 10.3390/cells13151261. PMID: 39120292Free PMC Article
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
Hadalin V, Buscarino M, Sajovic J, Meglič A, Jarc-Vidmar M, Hawlina M, Volk M, Fakin A
Int J Mol Sci 2023 Feb 14;24(4) doi: 10.3390/ijms24043840. PMID: 36835250Free PMC Article
Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.
Lisbjerg K, Bertelsen M, Lyng Forman J, Grønskov K, Prener Holtan J, Kessel L
Ophthalmic Genet 2023 Apr;44(2):139-146. Epub 2022 Sep 26 doi: 10.1080/13816810.2022.2123006. PMID: 36164253
Spatial Characteristics of Peripheral Visual Islands in Retinitis Pigmentosa.
Patel TP, Vongsachang H, Schilling A, Kong X, Singh MS
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):26. doi: 10.1167/iovs.63.2.26. PMID: 35175279Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

Clinical prediction guides

Clinical and molecular findings in children with retinitis pigmentosa.
Li C, Zhang C, Bai D, Cui Y
Ophthalmic Genet 2024 Oct;45(5):441-451. Epub 2024 Aug 29 doi: 10.1080/13816810.2024.2357305. PMID: 39206744
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, Malka S, Wright G, Michaelides M, Mahroo OA, Webster AR, Arno G
Cells 2024 Jul 26;13(15) doi: 10.3390/cells13151261. PMID: 39120292Free PMC Article
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J, Ma X, Lin K, Huang R, Bi X, Ming C, Li L, Li X, Li G, Zhao L, Yang T, Gao Y, Zhang T
Hum Genomics 2023 Jan 4;17(1):1. doi: 10.1186/s40246-022-00449-1. PMID: 36597107Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R, Chan L, Oh JK, Cho A, Sparrow JR, Tsang SH
Sci Rep 2020 Feb 25;10(1):3364. doi: 10.1038/s41598-020-60137-9. PMID: 32098976Free PMC Article

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