U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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
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
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
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B
Klin Oczna 2008;110(4-6):203-6. PMID: 18655463
The changing face of Usher syndrome: clinical implications.
Cohen M, Bitner-Glindzicz M, Luxon L
Int J Audiol 2007 Feb;46(2):82-93. doi: 10.1080/14992020600975279. PMID: 17365059

Diagnosis

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
Non-malignant uveitis masquerade syndromes.
Kubicka-Trzaska A, Romanowska-Dixon B
Klin Oczna 2008;110(4-6):203-6. PMID: 18655463
The changing face of Usher syndrome: clinical implications.
Cohen M, Bitner-Glindzicz M, Luxon L
Int J Audiol 2007 Feb;46(2):82-93. doi: 10.1080/14992020600975279. PMID: 17365059
Laurence-Moon-Biedl syndrome.
Maheshwari S, Porwal R, Joad SH, Goyal RK, Chandak GK
J Assoc Physicians India 1998 Nov;46(11):977. PMID: 11229232
UNILATERAL RETINITIS PIGMENTOSA.
Mehra KS
Br J Ophthalmol 1962 May;46(5):310. doi: 10.1136/bjo.46.5.310. PMID: 18170782Free 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
Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child.
Keskin O, Keskin M, Guler E, Tutar E, Saygili O, Kucukosmanoglu E, Kor Y, Celik H, Coskun E
Pediatr Pulmonol 2011 Aug;46(8):820-3. Epub 2011 Feb 18 doi: 10.1002/ppul.21420. PMID: 21337729
Antivascular endothelial growth factor in hereditary dystrophies.
Battaglia Parodi M, Iacono P, Bandello F
Dev Ophthalmol 2010;46:107-110. Epub 2010 Aug 10 doi: 10.1159/000320013. PMID: 20703036
Thiamine responsive megaloblastic anemia.
Mathews L, Narayanadas K, Sunil G
Indian Pediatr 2009 Feb;46(2):172-4. PMID: 19242038
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
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
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
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
The changing face of Usher syndrome: clinical implications.
Cohen M, Bitner-Glindzicz M, Luxon L
Int J Audiol 2007 Feb;46(2):82-93. doi: 10.1080/14992020600975279. PMID: 17365059

Clinical prediction guides

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
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
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
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...