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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).
See: Condition Record
Late-onset retinal degeneration

Professional guidelines

PubMed

Quantitative analysis of hydroxyapatite-binding plasma proteins in genotyped individuals with late-stage age-related macular degeneration.
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

Optical coherence tomography features in vitreoretinal lymphoma compared with non-infectious uveitis.
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
A New Method for Visualizing Drusen and Their Progression in Flood-Illumination Adaptive Optics Ophthalmoscopy.
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
Multimodal imaging characteristics in eyes with vitreoretinal lymphoma treated with intravitreal rituximab.
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
Quantitative analysis of hydroxyapatite-binding plasma proteins in genotyped individuals with late-stage age-related macular degeneration.
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
Parallel findings in age-related macular degeneration and Alzheimer's disease.
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

A New Method for Visualizing Drusen and Their Progression in Flood-Illumination Adaptive Optics Ophthalmoscopy.
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
Multimodal imaging characteristics in eyes with vitreoretinal lymphoma treated with intravitreal rituximab.
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
Fluorescence Lifetimes and Spectra of RPE and Sub-RPE Deposits in Histology of Control and AMD Eyes.
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
Imaging hydroxyapatite in sub-retinal pigment epithelial deposits by fluorescence lifetime imaging microscopy with tetracycline staining.
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
Enhanced Detection of Sub-Retinal Pigment Epithelial Cell Layer Deposits in Human and Murine Tissue: Imaging Zinc as a Biomarker for Age-Related Macular Degeneration (An American Ophthalmological Society Thesis).
van Kuijk FJGM, McPherson SW, Roehrich H
Trans Am Ophthalmol Soc 2017 Aug;115:T3. Epub 2017 Aug 22 PMID: 29021717Free PMC Article

Therapy

Unique Features of Posterior Ocular Involvement of Whipple's Disease in a Patient with No Gastrointestinal Symptoms.
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
HISTOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION: A Multilayer Approach.
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
Anti-amyloid therapy protects against retinal pigmented epithelium damage and vision loss in a model of age-related macular degeneration.
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
Proteomics characterization of cell membrane blebs in human retinal pigment epithelium cells.
Alcazar O, Hawkridge AM, Collier TS, Cousins SW, Bhattacharya SK, Muddiman DC, Marin-Castano ME
Mol Cell Proteomics 2009 Oct;8(10):2201-11. Epub 2009 Jun 29 doi: 10.1074/mcp.M900203-MCP200. PMID: 19567368Free PMC Article
Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.
Jacobson SG, Cideciyan AV, Wright E, Wright AF
Invest Ophthalmol Vis Sci 2001 Jul;42(8):1882-90. PMID: 11431457

Prognosis

Optical coherence tomography features in vitreoretinal lymphoma compared with non-infectious uveitis.
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
Multimodal imaging characteristics in eyes with vitreoretinal lymphoma treated with intravitreal rituximab.
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
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
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

A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.
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
Multimodal imaging characteristics in eyes with vitreoretinal lymphoma treated with intravitreal rituximab.
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
Imaging hydroxyapatite in sub-retinal pigment epithelial deposits by fluorescence lifetime imaging microscopy with tetracycline staining.
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
Drusen in patient-derived hiPSC-RPE models of macular dystrophies.
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
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
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

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