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Retinitis pigmentosa 57(RP57)

MedGen UID:
462171
Concept ID:
C3150821
Disease or Syndrome
Synonym: RP57
 
Gene (location): PDE6G (17q25.3)
 
Monarch Initiative: MONDO:0013315
OMIM®: 613582

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G 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).
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.
Absent foveal reflex
MedGen UID:
602333
Concept ID:
C0423420
Finding
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
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.
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

Tao T, Wang L, Chong W, Yang L, Li G
Int Ophthalmol 2020 Sep;40(9):2325-2343. Epub 2020 May 24 doi: 10.1007/s10792-020-01415-3. PMID: 32448990
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article
Chen ZJ, Lin KH, Lee SH, Shen RJ, Feng ZK, Wang XF, Huang XF, Huang ZQ, Jin ZB
Clin Exp Ophthalmol 2020 May;48(4):486-499. Epub 2020 Jan 20 doi: 10.1111/ceo.13708. PMID: 31872526

Recent clinical studies

Etiology

Li C, Peng C, Zhang C, Li N
BMC Ophthalmol 2023 Jan 17;23(1):25. doi: 10.1186/s12886-023-02772-0. PMID: 36650468Free PMC Article
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
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
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
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Diagnosis

Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY
Genes (Basel) 2021 Apr 30;12(5) doi: 10.3390/genes12050675. PMID: 33946315Free PMC Article
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
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
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article

Therapy

Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article
Bittner AK, Seger K, Salveson R, Kayser S, Morrison N, Vargas P, Mendelsohn D, Han J, Bi H, Dagnelie G, Benavente A, Ramella-Roman J
Acta Ophthalmol 2018 May;96(3):e366-e376. Epub 2017 Nov 11 doi: 10.1111/aos.13581. PMID: 29130647Free PMC Article
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
Wang LL, Sun Y, Huang K, Zheng L
Mol Nutr Food Res 2013 Sep;57(9):1557-68. Epub 2013 Feb 18 doi: 10.1002/mnfr.201200718. PMID: 23417969
Maino JH, McMahon TT
J Am Optom Assoc 1986 Jul;57(7):532-5. PMID: 3745758

Prognosis

Lee EK, Lee SY, Ma DJ, Yoon CK, Park UC, Yu HG
Retina 2022 Apr 1;42(4):807-815. doi: 10.1097/IAE.0000000000003367. PMID: 34907125
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P
Sci Rep 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. PMID: 29555955Free PMC Article
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
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
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421

Clinical prediction guides

Surl D, Won D, Lee ST, Lee CS, Lee J, Lim HT, Chung SA, Song WK, Kim M, Kim SS, Shin S, Choi JR, Sangermano R, Byeon SH, Bujakowska KM, Han J
JAMA Netw Open 2024 May 1;7(5):e2414198. doi: 10.1001/jamanetworkopen.2024.14198. PMID: 38819824Free PMC Article
Li X, Xiao H, Su Y, Xiao X, Li S, Lin S, Fang L, Sun W, Wang P, Hejtmancik JF, Yu M, Chen L, Zhang Q, Liu X
Br J Ophthalmol 2024 Nov 22;108(12):1679-1687. doi: 10.1136/bjo-2023-324931. PMID: 38749530
Pezzella N, Bove G, Tammaro R, Franco B
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):57-71. Epub 2022 Feb 2 doi: 10.1002/ajmg.c.31962. PMID: 35112477Free PMC Article
Heath Jeffery RC, Mukhtar SA, McAllister IL, Morgan WH, Mackey DA, Chen FK
Ophthalmic Genet 2021 Aug;42(4):431-439. Epub 2021 May 3 doi: 10.1080/13816810.2021.1913610. PMID: 33939573Free PMC Article
Özmert E, Arslan U
Stem Cell Res Ther 2020 Jan 13;11(1):25. doi: 10.1186/s13287-020-1549-6. PMID: 31931872Free PMC Article

Recent systematic reviews

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q
Invest Ophthalmol Vis Sci 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28. PMID: 35608843Free PMC Article

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