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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

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
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165
Wolbarsht ML, Landers MB 3rd, Wadsworth JA, Anderson WB Jr
Adv Exp Med Biol 1977;77:181-95. doi: 10.1007/978-1-4899-5010-9_16. PMID: 300550

Recent clinical studies

Etiology

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: 36948373Free PMC Article
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free 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
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

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: 36948373Free 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
Klysik M
Pathol Res Pract 2008;204(2):77-88. doi: 10.1016/j.prp.2007.10.013. PMID: 18312782
Jay B, Bird A
Trans Am Acad Ophthalmol Otolaryngol 1973 Sep-Oct;77(5):OP641-51. PMID: 4784907

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
Dizdar Yigit D, Sevik MO, Şahin Ö
Retina 2022 May 1;42(5):923-933. doi: 10.1097/IAE.0000000000003386. PMID: 34923514
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165
Bergsma DR, Wolf ML
Adv Exp Med Biol 1977;77:197-209. doi: 10.1007/978-1-4899-5010-9_17. PMID: 848392
Wolbarsht ML, Landers MB 3rd, Wadsworth JA, Anderson WB Jr
Adv Exp Med Biol 1977;77:181-95. doi: 10.1007/978-1-4899-5010-9_16. PMID: 300550

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
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
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
Howard DM, Pain O, Arathimos R, Barbu MC, Amador C, Walker RM, Jermy B, Adams MJ, Deary IJ, Porteous D, Campbell A, Sullivan PF, Evans KL, Arseneault L, Wray NR, Meaney M, McIntosh AM, Lewis CM
Hum Mol Genet 2022 Feb 21;31(4):651-664. doi: 10.1093/hmg/ddab274. PMID: 34523677Free PMC Article
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
Lolak N, Akocak S, Bua S, Koca M, Supuran CT
Bioorg Chem 2018 Apr;77:542-547. Epub 2018 Feb 15 doi: 10.1016/j.bioorg.2018.02.015. PMID: 29462772
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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