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Retinal drusen

MedGen UID:
20549
•Concept ID:
C0035312
•
Disease or Syndrome
Synonyms: Drusen, Retinal; Retinal Drusen
SNOMED CT: Colloid bodies in retina (247153005); Retinal drusen (247153005)
 
Monarch Initiative: MONDO:0006949

Definition

Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinal drusen

Professional guidelines

PubMed

Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema.
Sibony PA, Kupersmith MJ, Kardon RH
J Neuroophthalmol 2021 Mar 1;41(1):77-92. doi: 10.1097/WNO.0000000000001078. PMID: 32909979Free PMC Article
Genotype-phenotype associations in neovascular age-related macular degeneration.
Hogg RE, McKay GJ, Hughes AE, Muldrew KA, Chakravarthy U
Retina 2012 Oct;32(9):1950-8. doi: 10.1097/IAE.0b013e31824dadf1. PMID: 22487577
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies.
Seddon JM, Reynolds R, Rosner B
Invest Ophthalmol Vis Sci 2009 Feb;50(2):586-91. Epub 2008 Oct 20 doi: 10.1167/iovs.08-2514. PMID: 18936151Free PMC Article

Recent clinical studies

Etiology

Retinal findings in glomerulonephritis.
Mack HG, Colville DJ, Harraka P, Savige JA, Invernizzi A, Fraser-Bell S
Clin Exp Optom 2022 Jul;105(5):474-486. Epub 2021 Dec 8 doi: 10.1080/08164622.2021.2003691. PMID: 34877922
Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
Subretinal drusenoid deposits AKA pseudodrusen.
Spaide RF, Ooto S, Curcio CA
Surv Ophthalmol 2018 Nov-Dec;63(6):782-815. Epub 2018 May 31 doi: 10.1016/j.survophthal.2018.05.005. PMID: 29859199
AGE-RELATED MACULAR DEGENERATION.
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article
Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group.
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513

Diagnosis

Macular neovascularization in eyes with pachydrusen.
Teo KYC, Cheong KX, Ong R, Hamzah H, Yanagi Y, Wong TY, Chakravarthy U, Cheung CMG
Sci Rep 2021 Apr 5;11(1):7495. doi: 10.1038/s41598-021-87083-4. PMID: 33820941Free PMC Article
Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
Subretinal drusenoid deposits AKA pseudodrusen.
Spaide RF, Ooto S, Curcio CA
Surv Ophthalmol 2018 Nov-Dec;63(6):782-815. Epub 2018 May 31 doi: 10.1016/j.survophthal.2018.05.005. PMID: 29859199
AGE-RELATED MACULAR DEGENERATION.
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article
Flecked retina disorders.
De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

Therapy

Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
A DOUBLE-MASKED, RANDOMIZED, SHAM-CONTROLLED, SINGLE-CENTER STUDY WITH PHOTOBIOMODULATION FOR THE TREATMENT OF DRY AGE-RELATED MACULAR DEGENERATION.
Markowitz SN, Devenyi RG, Munk MR, Croissant CL, Tedford SE, Rückert R, Walker MG, Patino BE, Chen L, Nido M, Tedford CE
Retina 2020 Aug;40(8):1471-1482. doi: 10.1097/IAE.0000000000002632. PMID: 31404033Free PMC Article
Age-related macular degeneration (AMD): pathogenesis and therapy.
Nowak JZ
Pharmacol Rep 2006 May-Jun;58(3):353-63. PMID: 16845209
Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group.
Ophthalmology 1991 May;98(5 Suppl):786-806. PMID: 2062513

Prognosis

RETINAL OPTICAL COHERENCE TOMOGRAPHY IMAGING BIOMARKERS: A Review of the Literature.
Pandya BU, Grinton M, Mandelcorn ED, Felfeli T
Retina 2024 Mar 1;44(3):369-380. doi: 10.1097/IAE.0000000000003974. PMID: 37903455Free PMC Article
Lipid metabolism and retinal diseases.
Gabrielle PH
Acta Ophthalmol 2022 Sep;100 Suppl 269:3-43. doi: 10.1111/aos.15226. PMID: 36117363
Age-Related Macular Degeneration: Epidemiology and Clinical Aspects.
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article

Clinical prediction guides

RETINAL OPTICAL COHERENCE TOMOGRAPHY IMAGING BIOMARKERS: A Review of the Literature.
Pandya BU, Grinton M, Mandelcorn ED, Felfeli T
Retina 2024 Mar 1;44(3):369-380. doi: 10.1097/IAE.0000000000003974. PMID: 37903455Free PMC Article
Age-Related Macular Degeneration: Epidemiology and Clinical Aspects.
Keenan TDL, Cukras CA, Chew EY
Adv Exp Med Biol 2021;1256:1-31. doi: 10.1007/978-3-030-66014-7_1. PMID: 33847996
Dietary Nutrient Intake and Progression to Late Age-Related Macular Degeneration in the Age-Related Eye Disease Studies 1 and 2.
Agrón E, Mares J, Clemons TE, Swaroop A, Chew EY, Keenan TDL; AREDS and AREDS2 Research Groups
Ophthalmology 2021 Mar;128(3):425-442. Epub 2020 Aug 25 doi: 10.1016/j.ophtha.2020.08.018. PMID: 32858063Free PMC Article
Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.
Waldstein SM, Vogl WD, Bogunovic H, Sadeghipour A, Riedl S, Schmidt-Erfurth U
JAMA Ophthalmol 2020 Jul 1;138(7):740-747. doi: 10.1001/jamaophthalmol.2020.1376. PMID: 32379287Free PMC Article
A DOUBLE-MASKED, RANDOMIZED, SHAM-CONTROLLED, SINGLE-CENTER STUDY WITH PHOTOBIOMODULATION FOR THE TREATMENT OF DRY AGE-RELATED MACULAR DEGENERATION.
Markowitz SN, Devenyi RG, Munk MR, Croissant CL, Tedford SE, Rückert R, Walker MG, Patino BE, Chen L, Nido M, Tedford CE
Retina 2020 Aug;40(8):1471-1482. doi: 10.1097/IAE.0000000000002632. PMID: 31404033Free PMC Article

Recent systematic reviews

A SYSTEMATIC REVIEW OF DEEP LEARNING APPLICATIONS FOR OPTICAL COHERENCE TOMOGRAPHY IN AGE-RELATED MACULAR DEGENERATION.
Paul SK, Pan I, Sobol WM
Retina 2022 Aug 1;42(8):1417-1424. doi: 10.1097/IAE.0000000000003535. PMID: 35877964
Preventing Progression in Nonexudative Age-Related Macular Degeneration With Subthreshold Laser Therapy: A Systematic Review.
Eng VA, Wood EH, Boddu S, Karth PA, Leng T
Ophthalmic Surg Lasers Imaging Retina 2019 Mar 1;50(3):e61-e70. doi: 10.3928/23258160-20190301-13. PMID: 30893458
AGE-RELATED MACULAR DEGENERATION.
Gheorghe A, Mahdi L, Musat O
Rom J Ophthalmol 2015 Apr-Jun;59(2):74-7. PMID: 26978865Free PMC Article
Laser treatment of drusen to prevent progression to advanced age-related macular degeneration.
Virgili G, Michelessi M, Parodi MB, Bacherini D, Evans JR
Cochrane Database Syst Rev 2015 Oct 23;2015(10):CD006537. doi: 10.1002/14651858.CD006537.pub3. PMID: 26493180Free PMC Article
Laser treatment of drusen to prevent progression to advanced age-related macular degeneration.
Parodi MB, Virgili G, Evans JR
Cochrane Database Syst Rev 2009 Jul 8;(3):CD006537. doi: 10.1002/14651858.CD006537.pub2. PMID: 19588397

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