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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
Descreased 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
Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.
Arslan U, Özmert E
Adv Ther 2020 May;37(5):2390-2412. Epub 2020 Apr 18 doi: 10.1007/s12325-020-01308-y. PMID: 32303913

Recent clinical studies

Etiology

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
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
Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.
Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S
Semin Ophthalmol 2022 Apr 3;37(3):284-290. Epub 2021 Aug 17 doi: 10.1080/08820538.2021.1957126. PMID: 34404308
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

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
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
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
Clinical Presentation and Demographic Distribution of Retinitis Pigmentosa in India and Implications for Potential Treatments: Electronic Medical Records Driven Big Data Analytics: Report I.
Parameswarappa DC, Das AV, Dave VP, Agarwal K, Natarajan R, Jalali S
Semin Ophthalmol 2022 Apr 3;37(3):284-290. Epub 2021 Aug 17 doi: 10.1080/08820538.2021.1957126. PMID: 34404308
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B
Klin Oczna 2008;110(4-6):203-6. PMID: 18655463

Therapy

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
Management of retinitis pigmentosa by Wharton's jelly-derived mesenchymal stem cells: prospective analysis of 1-year results.
Özmert E, Arslan U
Stem Cell Res Ther 2020 Aug 12;11(1):353. doi: 10.1186/s13287-020-01870-w. PMID: 32787913Free PMC Article
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B
Klin Oczna 2008;110(4-6):203-6. PMID: 18655463

Prognosis

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
Correlating optical coherence tomography biomarkers with visual acuity in nigerian retinitis pigmentosa patients.
Okonkwo ON, Hassan AO, Ogbedo EN, Akanbi T, Umeh V, Agweye CT
Niger J Clin Pract 2022 Mar;25(3):267-272. doi: 10.4103/njcp.njcp_1312_21. PMID: 35295047
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
Vision test variability in retinitis pigmentosa and psychosocial factors.
Bittner AK, Ibrahim MA, Haythornthwaite JA, Diener-West M, Dagnelie G
Optom Vis Sci 2011 Dec;88(12):1496-506. doi: 10.1097/OPX.0b013e3182348d0b. PMID: 21946786Free PMC Article

Clinical prediction guides

Microvascular quantitative metrics in retinitis pigmentosa using optical coherence tomography angiography.
Duch Hurtado M, Vidal Oliver L, Marín Lambies C, Salom Alonso D
Arch Soc Esp Oftalmol (Engl Ed) 2023 May;98(5):270-275. Epub 2023 Apr 7 doi: 10.1016/j.oftale.2023.04.004. PMID: 37031736
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
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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