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Retinitis pigmentosa 77(RP77)

MedGen UID:
934593
Concept ID:
C4310626
Disease or Syndrome
Synonym: RP77
 
Gene (location): REEP6 (19p13.3)
 
Monarch Initiative: MONDO:0015013
OMIM®: 617304

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 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).
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
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.
Retinal atrophy
MedGen UID:
101075
Concept ID:
C0521694
Disease or Syndrome
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
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.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
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.

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
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Klysik M
Pathol Res Pract 2008;204(2):77-88. doi: 10.1016/j.prp.2007.10.013. PMID: 18312782

Recent clinical studies

Etiology

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
McConnachie DJ, Stow JL, Mallett AJ
Am J Kidney Dis 2021 Mar;77(3):410-419. Epub 2020 Oct 9 doi: 10.1053/j.ajkd.2020.08.012. PMID: 33039432
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
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
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Diagnosis

Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV
Ophthalmic Res 2024;67(1):172-182. Epub 2023 Dec 29 doi: 10.1159/000536036. PMID: 38160664
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
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
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
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318

Therapy

Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free PMC Article
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
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG
Prog Retin Eye Res 2020 Jul;77:100827. Epub 2019 Dec 30 doi: 10.1016/j.preteyeres.2019.100827. PMID: 31899291Free 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

Prognosis

Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free PMC Article
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
Jiang F, Pan Z, Xu K, Tian L, Xie Y, Zhang X, Chen J, Dong B, Li Y
Invest Ophthalmol Vis Sci 2016 Jan 1;57(1):145-52. doi: 10.1167/iovs.15-18190. PMID: 26780318
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Comander J, Weigel DiFranco C, Sanderson K, Place E, Maher M, Zampaglione E, Zhao Y, Huckfeldt RM, Bujakowska KM, Pierce E
JCI Insight 2023 Aug 8;8(15) doi: 10.1172/jci.insight.167546. PMID: 37261916Free PMC Article
Duncan JL, Liang W, Maguire MG, Porco TC, Wong J, Audo I, Cava JA, Grieve K, Kalitzeos A, Kreis J, Michaelides M, Norberg N, Paques M, Carroll J; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2023 Aug;252:77-93. Epub 2023 Mar 21 doi: 10.1016/j.ajo.2023.03.006. PMID: 36948373
Meral N, Zabek O, Camenzind Zuche H, Müller U, Prétot D, Rickmann A, Scholl HPN, Della Volpe Waizel M
Ophthalmic Res 2022;65(1):52-59. Epub 2021 Oct 4 doi: 10.1159/000519998. PMID: 34607326
Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY
Sci Rep 2020 Nov 11;10(1):19540. doi: 10.1038/s41598-020-75902-z. PMID: 33177553Free PMC Article
Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315Free PMC Article

Recent systematic reviews

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article

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