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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): Gene(s) directly associated with this condition or phenotype.	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

Abnormality of the eye
- Drusen
- Progressive visual loss

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: 37399252 Free 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: 35129629 Free 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

Fundus changes in membranoproliferative glomerulonephritis type II. A fluorescein angiographic study of 23 patients.

Leys A, Vanrenterghem Y, Van Damme B, Snyers B, Pirson Y, Leys M
Graefes Arch Clin Exp Ophthalmol 1991;229(5):406-10. doi: 10.1007/BF00166300. PMID: 1937071

See all (27)

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: 37399252 Free PMC Article

Localised relative scotoma in cuticular drusen.

Solitary Idiopathic Choroiditis Coexisting with Cuticular Drusen.

Casalino G, Jothi VG, Chakravarthy U
Ophthalmol Retina 2018 Feb;2(2):167. Epub 2018 Feb 2 doi: 10.1016/j.oret.2017.09.001. PMID: 31047344

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

High-resolution Fourier-domain optical coherence tomography findings in vitelliform detachment associated with basal laminar drusen.

Pilli S, Zawadzki RJ, Werner JS, Park SS
Retina 2011 Apr;31(4):812-4. doi: 10.1097/IAE.0b013e318207d112. PMID: 21836408 Free PMC Article

See all (27)

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

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

Photodynamic therapy for choroidal neovascularisation secondary to basal laminar drusen.

Guigui B, Martinet V, Leveziel N, Coscas G, Soubrane G, Souied EH
Eye (Lond) 2009 Nov;23(11):2115-8. Epub 2009 Oct 2 doi: 10.1038/eye.2009.239. PMID: 19798112

See all (6)

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

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: 7520275 Free PMC Article

Fundus changes in membranoproliferative glomerulonephritis type II. A fluorescein angiographic study of 23 patients.

Leys A, Vanrenterghem Y, Van Damme B, Snyers B, Pirson Y, Leys M
Graefes Arch Clin Exp Ophthalmol 1991;229(5):406-10. doi: 10.1007/BF00166300. PMID: 1937071

See all (8)

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

Cuticular Drusen: Clinical Phenotypes and Natural History Defined Using Multimodal Imaging.

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: 23933169 Free 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

The spectrum of phenotypes caused by variants in the CFH gene.

Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI
Mol Immunol 2009 May;46(8-9):1573-94. Epub 2009 Mar 17 doi: 10.1016/j.molimm.2009.02.013. PMID: 19297022

See all (18)

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Basal laminar drusen

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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