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Sub-RPE deposits

MedGen UID:
1615797
Concept ID:
C4531064
Finding
HPO: HP:0031531

Definition

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. [from HPO]

Conditions with this feature

Late-onset retinal degeneration
MedGen UID:
344198
Concept ID:
C1854065
Disease or Syndrome
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).

Professional guidelines

PubMed

Arya S, Emri E, Synowsky SA, Shirran SL, Barzegar-Befroei N, Peto T, Botting CH, Lengyel I, Stewart AJ
Exp Eye Res 2018 Jul;172:21-29. Epub 2018 Mar 24 doi: 10.1016/j.exer.2018.03.023. PMID: 29580721

Recent clinical studies

Etiology

Rossi EA, Norberg N, Eandi C, Chaumette C, Kapoor S, Le L, Snyder VC, Martel JN, Gautier J, Gocho K, Dansingani KK, Chhablani J, Arleo A, Mrejen S, Sahel JA, Grieve K, Paques M
Transl Vis Sci Technol 2021 Dec 1;10(14):19. doi: 10.1167/tvst.10.14.19. PMID: 34928325Free PMC Article
Rishi P, Maitra P, Das K, Rishi E, Manchegowda PT
Int Ophthalmol 2021 Aug;41(8):2711-2722. Epub 2021 Apr 8 doi: 10.1007/s10792-021-01828-8. PMID: 33834345
Arya S, Emri E, Synowsky SA, Shirran SL, Barzegar-Befroei N, Peto T, Botting CH, Lengyel I, Stewart AJ
Exp Eye Res 2018 Jul;172:21-29. Epub 2018 Mar 24 doi: 10.1016/j.exer.2018.03.023. PMID: 29580721
Flinn JM, Kakalec P, Tappero R, Jones B, Lengyel I
Metallomics 2014 Jul;6(7):1223-8. doi: 10.1039/c4mt00058g. PMID: 24740686
Ohno-Matsui K
Prog Retin Eye Res 2011 Jul;30(4):217-38. Epub 2011 Mar 25 doi: 10.1016/j.preteyeres.2011.02.004. PMID: 21440663

Diagnosis

Rossi EA, Norberg N, Eandi C, Chaumette C, Kapoor S, Le L, Snyder VC, Martel JN, Gautier J, Gocho K, Dansingani KK, Chhablani J, Arleo A, Mrejen S, Sahel JA, Grieve K, Paques M
Transl Vis Sci Technol 2021 Dec 1;10(14):19. doi: 10.1167/tvst.10.14.19. PMID: 34928325Free PMC Article
Rishi P, Maitra P, Das K, Rishi E, Manchegowda PT
Int Ophthalmol 2021 Aug;41(8):2711-2722. Epub 2021 Apr 8 doi: 10.1007/s10792-021-01828-8. PMID: 33834345
Schultz R, Gamage KCLK, Messinger JD, Curcio CA, Hammer M
Invest Ophthalmol Vis Sci 2020 Sep 1;61(11):9. doi: 10.1167/iovs.61.11.9. PMID: 32897378Free PMC Article
van Kuijk FJGM, McPherson SW, Roehrich H
Trans Am Ophthalmol Soc 2017 Aug;115:T3. Epub 2017 Aug 22 PMID: 29021717Free PMC Article
Marmorstein AD, Marmorstein LY, Sakaguchi H, Hollyfield JG
Invest Ophthalmol Vis Sci 2002 Jul;43(7):2435-41. PMID: 12091448

Therapy

Bosello F, Casalino G, Neri E, Alfano A, Bonora A, Marchini G
Ocul Immunol Inflamm 2022 Jul;30(5):1168-1171. Epub 2021 Feb 5 doi: 10.1080/09273948.2020.1859548. PMID: 33545009
Li M, Huisingh C, Messinger J, Dolz-Marco R, Ferrara D, Freund KB, Curcio CA
Retina 2018 Oct;38(10):1937-1953. doi: 10.1097/IAE.0000000000002182. PMID: 29746415Free PMC Article
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ
Invest Ophthalmol Vis Sci 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. PMID: 22003107
Ding JD, Johnson LV, Herrmann R, Farsiu S, Smith SG, Groelle M, Mace BE, Sullivan P, Jamison JA, Kelly U, Harrabi O, Bollini SS, Dilley J, Kobayashi D, Kuang B, Li W, Pons J, Lin JC, Bowes Rickman C
Proc Natl Acad Sci U S A 2011 Jul 12;108(28):E279-87. Epub 2011 Jun 20 doi: 10.1073/pnas.1100901108. PMID: 21690377Free PMC Article
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Prognosis

El Zein L, Smith WM, White LJ, Hodge DO, Olsen TW, Pulido JS, Dalvin LA
BMC Ophthalmol 2024 Jun 13;24(1):255. doi: 10.1186/s12886-024-03513-7. PMID: 38872120Free PMC Article
Rishi P, Maitra P, Das K, Rishi E, Manchegowda PT
Int Ophthalmol 2021 Aug;41(8):2711-2722. Epub 2021 Apr 8 doi: 10.1007/s10792-021-01828-8. PMID: 33834345
Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD
Hum Mol Genet 2007 Oct 15;16(20):2423-32. Epub 2007 Jul 30 doi: 10.1093/hmg/ddm199. PMID: 17664227

Clinical prediction guides

Borooah S, Chekuri A, Pachauri S, Sahu B, Vorochikhina M, Suk JJ, Bartsch DU, Chavali VRM, Jablonski MM, Ayyagari R
Adv Exp Med Biol 2023;1415:335-340. doi: 10.1007/978-3-031-27681-1_48. PMID: 37440053
Rishi P, Maitra P, Das K, Rishi E, Manchegowda PT
Int Ophthalmol 2021 Aug;41(8):2711-2722. Epub 2021 Apr 8 doi: 10.1007/s10792-021-01828-8. PMID: 33834345
Szmacinski H, Hegde K, Zeng HH, Eslami K, Puche AC, Lengyel I, Thompson RB
J Biomed Opt 2020 Apr;25(4):1-11. doi: 10.1117/1.JBO.25.4.047001. PMID: 32319262Free PMC Article
Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R
Proc Natl Acad Sci U S A 2017 Sep 26;114(39):E8214-E8223. Epub 2017 Sep 6 doi: 10.1073/pnas.1710430114. PMID: 28878022Free PMC Article
Seo SJ, Krebs MP, Mao H, Jones K, Conners M, Lewin AS
Exp Eye Res 2012 Aug;101:60-71. Epub 2012 Jun 8 doi: 10.1016/j.exer.2012.05.013. PMID: 22687918Free PMC Article

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