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Retinitis pigmentosa 50(RP50)

MedGen UID:
442563
Concept ID:
C2750789
Disease or Syndrome
Synonyms: Retinitis pigmentosa, concentric; RP50
 
Gene (location): BEST1 (11q12.3)
 
Monarch Initiative: MONDO:0013175
OMIM®: 613194

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. [from MONDO]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Retinal flecks
MedGen UID:
602327
Concept ID:
C0423414
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
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.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
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

Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
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
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165

Curated

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 11 doi: 10.1038/ejhg.2011.251. PMID: 22234150Free PMC Article

Recent clinical studies

Therapy

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Liu K, Wang L
Bosn J Basic Med Sci 2019 Nov 8;19(4):321-327. doi: 10.17305/bjbms.2019.4114. PMID: 30995901Free PMC Article
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165
Luo YH, da Cruz L
Prog Retin Eye Res 2016 Jan;50:89-107. Epub 2015 Sep 25 doi: 10.1016/j.preteyeres.2015.09.003. PMID: 26404104
Afzelius BA
J Pathol 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. PMID: 15495266Free PMC Article

Prognosis

Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free PMC Article
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Bhardwaj A, Yadav A, Yadav M, Tanwar M
Indian J Ophthalmol 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. PMID: 35791117Free PMC Article
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
Sathasivam S
Orphanet J Rare Dis 2008 Apr 17;3:9. doi: 10.1186/1750-1172-3-9. PMID: 18416855Free PMC Article

Clinical prediction guides

Birtel J, Caswell R, De Silva SR, Herrmann P, Rehman S, Lotery AJ, Mahroo OA, Michaelides M, Webster AR, MacLaren RE, Charbel Issa P
Am J Ophthalmol 2024 Feb;258:32-42. Epub 2023 Oct 6 doi: 10.1016/j.ajo.2023.10.002. PMID: 37806544
Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M
Genes (Basel) 2023 Aug 8;14(8) doi: 10.3390/genes14081601. PMID: 37628652Free PMC Article
Heath Jeffery RC, Lo J, Thompson JA, Lamey TM, McLaren TL, DeRoach JN, Kabilio MS, Chen FK
Ophthalmic Genet 2023 Aug;44(4):352-360. Epub 2023 Apr 4 doi: 10.1080/13816810.2023.2196338. PMID: 37013444
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
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

Recent systematic reviews

Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642
Kabunga P, Lau AK, Phan K, Puranik R, Liang C, Davis RL, Sue CM, Sy RW
Int J Cardiol 2015 Feb 15;181:303-10. Epub 2014 Dec 13 doi: 10.1016/j.ijcard.2014.12.038. PMID: 25540845

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.

    Curated

    • EuroGentest, 2012
      Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

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