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Basal laminar drusen

MedGen UID:
152676
•Concept ID:
C0730295
•
Disease or Syndrome
Synonyms: DRUSEN OF BRUCH MEMBRANE; DRUSEN, CUTICULAR; DRUSEN, EARLY ADULT-ONSET, GROUPED
SNOMED CT: Cuticular drusen (312926005); Basal laminar drusen (312926005)
 
Gene (location): CFH (1q31.3)
 
Monarch Initiative: MONDO:0007472
OMIM®: 126700

Definition

Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by Bok, 2002, Boon et al., 2008). [from OMIM]

Clinical features

From HPO
Drusen
MedGen UID:
488956
•Concept ID:
C1260959
•
Finding
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
See: Feature record | Search on this feature
Progressive visual loss
MedGen UID:
326867
•Concept ID:
C1839364
•
Finding
A reduction of previously attained ability to see.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

HISTOLOGY, DIMENSIONS, AND FLUORESCEIN STAINING CHARACTERISTICS OF NODULAR AND CUTICULAR DRUSEN IN AGE-RELATED MACULAR DEGENERATION.
Evers CD 3rd, Chen L, Messinger JD, Killingsworth M, Freund KB, Curcio CA
Retina 2023 Oct 1;43(10):1708-1716. doi: 10.1097/IAE.0000000000003871. PMID: 37399252Free PMC Article
Evaluation of the microperimetry in eyes with cuticular drusen.
Nam SW, Lee JH, Byun Z, Ham DI, Kong M
Sci Rep 2022 Oct 20;12(1):17557. doi: 10.1038/s41598-022-22513-5. PMID: 36266529Free PMC Article
Localised relative scotoma in cuticular drusen.
Charng J, Balaratnasingam C, Attia MS, Heath Jeffery RC, Chen FK
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2157-2164. Epub 2022 Feb 7 doi: 10.1007/s00417-022-05570-4. PMID: 35129629Free PMC Article
Aging is not a disease: distinguishing age-related macular degeneration from aging.
Ardeljan D, Chan CC
Prog Retin Eye Res 2013 Nov;37:68-89. Epub 2013 Aug 9 doi: 10.1016/j.preteyeres.2013.07.003. PMID: 23933169Free PMC Article
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography.
van de Ven JP, Boon CJ, Smailhodzic D, Lechanteur YT, den Hollander AI, Hoyng CB, Theelen T
Am J Ophthalmol 2012 Sep;154(3):560-7. Epub 2012 May 23 doi: 10.1016/j.ajo.2012.03.012. PMID: 22626619

Diagnosis

HISTOLOGY, DIMENSIONS, AND FLUORESCEIN STAINING CHARACTERISTICS OF NODULAR AND CUTICULAR DRUSEN IN AGE-RELATED MACULAR DEGENERATION.
Evers CD 3rd, Chen L, Messinger JD, Killingsworth M, Freund KB, Curcio CA
Retina 2023 Oct 1;43(10):1708-1716. doi: 10.1097/IAE.0000000000003871. PMID: 37399252Free PMC Article
Evaluation of the microperimetry in eyes with cuticular drusen.
Nam SW, Lee JH, Byun Z, Ham DI, Kong M
Sci Rep 2022 Oct 20;12(1):17557. doi: 10.1038/s41598-022-22513-5. PMID: 36266529Free PMC Article
Localised relative scotoma in cuticular drusen.
Charng J, Balaratnasingam C, Attia MS, Heath Jeffery RC, Chen FK
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2157-2164. Epub 2022 Feb 7 doi: 10.1007/s00417-022-05570-4. PMID: 35129629Free PMC Article
Cuticular Drusen in Age-Related Macular Degeneration: Association with Progression and Impact on Visual Sensitivity.
Goh KL, Chen FK, Balaratnasingam C, Abbott CJ, Hodgson LAB, Guymer RH, Wu Z
Ophthalmology 2022 Jun;129(6):653-660. Epub 2022 Feb 1 doi: 10.1016/j.ophtha.2022.01.028. PMID: 35120992
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography.
van de Ven JP, Boon CJ, Smailhodzic D, Lechanteur YT, den Hollander AI, Hoyng CB, Theelen T
Am J Ophthalmol 2012 Sep;154(3):560-7. Epub 2012 May 23 doi: 10.1016/j.ajo.2012.03.012. PMID: 22626619

Therapy

Alterations in Extracellular Matrix/Bruch's Membrane Can Cause the Activation of the Alternative Complement Pathway via Tick-Over.
Fernandez-Godino R
Adv Exp Med Biol 2018;1074:29-35. doi: 10.1007/978-3-319-75402-4_4. PMID: 29721924
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Wagner EK, Raychaudhuri S, Villalonga MB, Java A, Triebwasser MP, Daly MJ, Atkinson JP, Seddon JM
Sci Rep 2016 Aug 30;6:31531. doi: 10.1038/srep31531. PMID: 27572114Free PMC Article
An evaluation of fundus photography and fundus autofluorescence in the diagnosis of cuticular drusen.
Høeg TB, Moldow B, Klein R, La Cour M, Klemp K, Erngaard D, Ellervik C, Buch H
Br J Ophthalmol 2016 Mar;100(3):378-82. Epub 2015 Jul 27 doi: 10.1136/bjophthalmol-2015-307197. PMID: 26216869
The immunological basis of degenerative diseases of the eye.
Nussenblatt RB, Liu B, Wei L, Sen HN
Int Rev Immunol 2013 Feb;32(1):97-112. doi: 10.3109/08830185.2012.740536. PMID: 23360161
Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1).
Lenassi E, Troeger E, Wilke R, Tufail A, Hawlina M, Jeffery G, Webster AR
Am J Ophthalmol 2013 Jan;155(1):190-8. Epub 2012 Oct 2 doi: 10.1016/j.ajo.2012.07.003. PMID: 23036572

Prognosis

Cuticular Drusen in Age-Related Macular Degeneration: Association with Progression and Impact on Visual Sensitivity.
Goh KL, Chen FK, Balaratnasingam C, Abbott CJ, Hodgson LAB, Guymer RH, Wu Z
Ophthalmology 2022 Jun;129(6):653-660. Epub 2022 Feb 1 doi: 10.1016/j.ophtha.2022.01.028. PMID: 35120992
Association of Drusen Phenotype in Age-Related Macular Degeneration from Human Eye-Bank Eyes to Disease Stage and Cause of Death.
Mano F, Sprehe N, Olsen TW
Ophthalmol Retina 2021 Aug;5(8):743-749. Epub 2020 Nov 20 doi: 10.1016/j.oret.2020.11.011. PMID: 33227563
CUTICULAR DRUSEN: Risk of Geographic Atrophy and Macular Neovascularization.
Sakurada Y, Parikh R, Gal-Or O, Balaratnasingam C, Leong BCS, Tanaka K, Cherepanoff S, Spaide RF, Freund KB, Yannuzzi LA
Retina 2020 Feb;40(2):257-265. doi: 10.1097/IAE.0000000000002399. PMID: 31972795
Cuticular Drusen: Clinical Phenotypes and Natural History Defined Using Multimodal Imaging.
Balaratnasingam C, Cherepanoff S, Dolz-Marco R, Killingsworth M, Chen FK, Mendis R, Mrejen S, Too LK, Gal-Or O, Curcio CA, Freund KB, Yannuzzi LA
Ophthalmology 2018 Jan;125(1):100-118. Epub 2017 Sep 28 doi: 10.1016/j.ophtha.2017.08.033. PMID: 28964580
Visual function and course of basal laminar drusen combined with vitelliform macular detachment.
Cohen SY, Meunier I, Soubrane G, Glacet-Bernard A, Coscas GJ
Br J Ophthalmol 1994 Jun;78(6):437-40. doi: 10.1136/bjo.78.6.437. PMID: 7520275Free PMC Article

Clinical prediction guides

Cuticular Drusen in Age-Related Macular Degeneration: Association with Progression and Impact on Visual Sensitivity.
Goh KL, Chen FK, Balaratnasingam C, Abbott CJ, Hodgson LAB, Guymer RH, Wu Z
Ophthalmology 2022 Jun;129(6):653-660. Epub 2022 Feb 1 doi: 10.1016/j.ophtha.2022.01.028. PMID: 35120992
Clinical manifestations of cuticular drusen in Korean patients.
Shin DH, Kong M, Han G, Han JC, Ham DI
Sci Rep 2020 Jul 10;10(1):11469. doi: 10.1038/s41598-020-68493-2. PMID: 32651454Free PMC Article
Cuticular Drusen: Clinical Phenotypes and Natural History Defined Using Multimodal Imaging.
Balaratnasingam C, Cherepanoff S, Dolz-Marco R, Killingsworth M, Chen FK, Mendis R, Mrejen S, Too LK, Gal-Or O, Curcio CA, Freund KB, Yannuzzi LA
Ophthalmology 2018 Jan;125(1):100-118. Epub 2017 Sep 28 doi: 10.1016/j.ophtha.2017.08.033. PMID: 28964580
Aging is not a disease: distinguishing age-related macular degeneration from aging.
Ardeljan D, Chan CC
Prog Retin Eye Res 2013 Nov;37:68-89. Epub 2013 Aug 9 doi: 10.1016/j.preteyeres.2013.07.003. PMID: 23933169Free PMC Article
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography.
van de Ven JP, Boon CJ, Smailhodzic D, Lechanteur YT, den Hollander AI, Hoyng CB, Theelen T
Am J Ophthalmol 2012 Sep;154(3):560-7. Epub 2012 May 23 doi: 10.1016/j.ajo.2012.03.012. PMID: 22626619

Supplemental Content

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    Clinical resources

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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