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Retinitis pigmentosa 76(RP76)

MedGen UID:
934671
Concept ID:
C4310704
Disease or Syndrome
Synonym: RP76
 
Gene (location): POMGNT1 (1p34.1)
 
Monarch Initiative: MONDO:0014929
OMIM®: 617123

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 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.
Peripapillary atrophy
MedGen UID:
473480
Concept ID:
C1719838
Pathologic Function
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
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).
Retinal thinning
MedGen UID:
762617
Concept ID:
C3549703
Finding
Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).
Hyperautofluorescent macular lesion
MedGen UID:
893119
Concept ID:
C4073101
Finding
Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.

Professional guidelines

PubMed

Savastano MC, Placidi G, Fossataro C, Giannuzzi F, D'Onofrio NC, Hu L, Cestrone V, D'Agostino E, Biagini I, Paris L, Coppa G, Rizzo C, Kilian R, Chiurazzi P, Bertelli M, Maltese PE, Falsini B, Rizzo S
Transl Vis Sci Technol 2024 Aug 1;13(8):44. doi: 10.1167/tvst.13.8.44. PMID: 39212608Free PMC Article
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Branham K, Schlegel D, Fahim AT, Jayasundera KT
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):571-577. Epub 2020 Aug 31 doi: 10.1002/ajmg.c.31835. PMID: 32865341

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
Hou M, Bao X, Liu L, Ding Y, Luo F, Wu M
Int Ophthalmol 2021 Nov;41(11):3631-3639. Epub 2021 Jun 27 doi: 10.1007/s10792-021-01935-6. PMID: 34180018
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421

Diagnosis

Dan H, Huang X, Xing Y, Shen Y
Mol Genet Genomic Med 2020 Mar;8(3):e1131. Epub 2020 Jan 20 doi: 10.1002/mgg3.1131. PMID: 31960602Free PMC Article
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C
Ophthalmology 2019 Aug;126(8):1181-1188. Epub 2019 Mar 20 doi: 10.1016/j.ophtha.2019.03.018. PMID: 30902645
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Marback EF, Guerra RL, Maia Junior Ode O, Marback RL
Arq Bras Oftalmol 2013 May-Jun;76(3):200-3. doi: 10.1590/s0004-27492013000300016. PMID: 23929086
Van Woerkom C, Ferrucci S
Optometry 2005 May;76(5):309-17. doi: 10.1016/s1529-1839(05)70314-6. PMID: 15884421

Therapy

Ikeda HO, Hasegawa T, Abe H, Amino Y, Nakagawa T, Tada H, Miyata M, Oishi A, Morita S, Tsujikawa A
Transl Vis Sci Technol 2024 Aug 1;13(8):29. doi: 10.1167/tvst.13.8.29. PMID: 39150715Free PMC Article
Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article
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
Eltony SA, Mohaseb HS, Ahmed AA, Sayed MM
Tissue Cell 2022 Jun;76:101786. Epub 2022 Mar 16 doi: 10.1016/j.tice.2022.101786. PMID: 35325673
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium
JAMA Ophthalmol 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649Free PMC Article

Prognosis

Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Savastano MC, Placidi G, Fossataro C, Giannuzzi F, D'Onofrio NC, Hu L, Cestrone V, D'Agostino E, Biagini I, Paris L, Coppa G, Rizzo C, Kilian R, Chiurazzi P, Bertelli M, Maltese PE, Falsini B, Rizzo S
Transl Vis Sci Technol 2024 Aug 1;13(8):44. doi: 10.1167/tvst.13.8.44. PMID: 39212608Free PMC Article
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
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

Hashem SA, Georgiou M, Wright G, Fujinami-Yokokawa Y, Laich Y, Daich Varela M, de Guimaraes TAC, Mahroo OA, Webster AR, Fujinami K, Michaelides M
Ophthalmol Retina 2025 Mar;9(3):278-287. Epub 2024 Aug 31 doi: 10.1016/j.oret.2024.08.018. PMID: 39218074
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH
Jpn J Ophthalmol 2024 Jan;68(1):1-11. Epub 2023 Dec 9 doi: 10.1007/s10384-023-01036-0. PMID: 38070066
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R
Orphanet J Rare Dis 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. PMID: 26338283Free PMC Article
Marback EF, Guerra RL, Maia Junior Ode O, Marback RL
Arq Bras Oftalmol 2013 May-Jun;76(3):200-3. doi: 10.1590/s0004-27492013000300016. PMID: 23929086

Recent systematic reviews

Chen X, Xu N, Li J, Zhao M, Huang L
Stem Cell Res Ther 2023 Oct 5;14(1):286. doi: 10.1186/s13287-023-03526-x. PMID: 37798796Free PMC Article

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