U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Macular drusen

MedGen UID:
671266
Concept ID:
C0677628
Finding
Synonyms: Drusen of macula; Lipid accumulation in macula
SNOMED CT: Drusen of macula (247154004); Macular drusen (247154004)
 
HPO: HP:0030499

Definition

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. [from HPO]

Conditions with this feature

Age related macular degeneration 1
MedGen UID:
400475
Concept ID:
C1864205
Disease or Syndrome
Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular Degeneration ARMD2 (153800) is associated with mutation in the ABCR gene (601691) on chromosome 1p, and ARMD3 (608895) is caused by mutation in the FBLN5 gene (604580) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4; 610698) appears to be explained by a polymorphism in the CFH gene (134370.0008). ARMD5 (613761) and ARMD6 (613757) are associated with mutation in the ERCC6 (609413) and RAX2 (610362) genes, respectively. ARMD7 (610149) and ARMD8 (613778), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (602194) and ARMS2 (611313) genes, respectively. ARMD9 (611378) is associated with single-nucleotide polymorphisms in the C3 gene (120700). ARMD10 (611488) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (603030). ARMD11 (611953) is association with variation in the CST3 gene (604312); ARMD12 (613784) with variation in the CX3CR1 gene (601470); and ARMD13 (615439) with variation in the CFI gene (217030). ARMD14 (615489) is associated with variation in or near the C2 (613927) and CFB (138470) genes on chromosome 6p21. ARMD15 (615591) is associated with variation in the C9 gene (120940). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (590050). A haplotype carrying deletion of the complement factor H-related genes CFHR1 (134371) and CFHR3 (605336) is also associated with reduced risk of ARMD. Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.
Macular dystrophy, retinal, 3
MedGen UID:
854716
Concept ID:
C3888009
Disease or Syndrome
Cone-rod dystrophy 24
MedGen UID:
1841082
Concept ID:
C5830446
Disease or Syndrome
Cone-rod dystrophy-24 (CORD24) is characterized by night blindness, defective color vision, and reduced visual acuity. Macular atrophy, macular pigmentation deposits, and drusen-like deposits in the macula have been observed. Age at onset varies widely, from the first to the sixth decades of live (Kobayashi et al., 2000; Huang et al., 2013; Zenteno et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970).

Professional guidelines

PubMed

Azuma M, Chung K, Fujii A, Shearer TR
J Ocul Pharmacol Ther 2010 Aug;26(4):367-71. doi: 10.1089/jop.2010.0042. PMID: 20653480Free PMC Article
Nadim F, Walid H, Adib J
Int Ophthalmol 2001;24(3):113-21. doi: 10.1023/a:1021189215498. PMID: 12498506

Recent clinical studies

Etiology

Lim RR, Shirali S, Rowlan J, Engel AL, Nazario M Jr, Gonzalez K, Tong A, Neitz J, Neitz M, Chao JR
Invest Ophthalmol Vis Sci 2024 Apr 1;65(4):43. doi: 10.1167/iovs.65.4.43. PMID: 38683564Free PMC Article
Sanchez Moreno FR, Mansukhani SA, Bhatti MT, Chen JJ
J Neuroophthalmol 2023 Jun 1;43(2):209-213. Epub 2022 Oct 18 doi: 10.1097/WNO.0000000000001718. PMID: 36255080
Santina A, Romero-Morales V, Abraham N, Somisetty S, Fogel-Levin M, Bousquet E, Nudleman E, Sadda S, Sarraf D
Can J Ophthalmol 2023 Dec;58(6):592-600. Epub 2022 Sep 13 doi: 10.1016/j.jcjo.2022.08.005. PMID: 36108790
Hilely A, Au A, Freund KB, Loewenstein A, Souied EH, Zur D, Sacconi R, Borrelli E, Peiretti E, Iovino C, Sugiura Y, Ellabban AA, Monés J, Waheed NK, Ozdek S, Yalinbas D, Thiele S, de Moura Mendonça LS, Lee MY, Lee WK, Turcotte P, Capuano V, Filali Ansary M, Chakravarthy U, Lommatzsch A, Gunnemann F, Pauleikhoff D, Ip MS, Querques G, Holz FG, Spaide RF, Sadda S, Sarraf D
Br J Ophthalmol 2021 Oct;105(10):1415-1420. Epub 2020 Sep 12 doi: 10.1136/bjophthalmol-2020-317326. PMID: 32920528
Balasubramanian S, Lei J, Nittala MG, Velaga SB, Haines J, Pericak-Vance MA, Stambolian D, Sadda SR
Retina 2017 Oct;37(10):1880-1887. doi: 10.1097/IAE.0000000000001428. PMID: 28169876Free PMC Article

Diagnosis

Sanchez Moreno FR, Mansukhani SA, Bhatti MT, Chen JJ
J Neuroophthalmol 2023 Jun 1;43(2):209-213. Epub 2022 Oct 18 doi: 10.1097/WNO.0000000000001718. PMID: 36255080
Santina A, Romero-Morales V, Abraham N, Somisetty S, Fogel-Levin M, Bousquet E, Nudleman E, Sadda S, Sarraf D
Can J Ophthalmol 2023 Dec;58(6):592-600. Epub 2022 Sep 13 doi: 10.1016/j.jcjo.2022.08.005. PMID: 36108790
Hilely A, Au A, Freund KB, Loewenstein A, Souied EH, Zur D, Sacconi R, Borrelli E, Peiretti E, Iovino C, Sugiura Y, Ellabban AA, Monés J, Waheed NK, Ozdek S, Yalinbas D, Thiele S, de Moura Mendonça LS, Lee MY, Lee WK, Turcotte P, Capuano V, Filali Ansary M, Chakravarthy U, Lommatzsch A, Gunnemann F, Pauleikhoff D, Ip MS, Querques G, Holz FG, Spaide RF, Sadda S, Sarraf D
Br J Ophthalmol 2021 Oct;105(10):1415-1420. Epub 2020 Sep 12 doi: 10.1136/bjophthalmol-2020-317326. PMID: 32920528
Rosen RB, Hathaway M, Rogers J, Pedro J, Garcia P, Dobre GM, Podoleanu AG
Invest Ophthalmol Vis Sci 2009 Feb;50(2):851-60. Epub 2008 Oct 24 doi: 10.1167/iovs.08-1855. PMID: 18952928
Nadim F, Walid H, Adib J
Int Ophthalmol 2001;24(3):113-21. doi: 10.1023/a:1021189215498. PMID: 12498506

Therapy

Domalpally A, Xing B, Pak JW, Agrón E, Ferris FL 3rd, Clemons TE, Chew EY
Ophthalmol Retina 2023 Feb;7(2):111-117. Epub 2022 Aug 6 doi: 10.1016/j.oret.2022.08.001. PMID: 35940477Free PMC Article
Hilely A, Au A, Freund KB, Loewenstein A, Souied EH, Zur D, Sacconi R, Borrelli E, Peiretti E, Iovino C, Sugiura Y, Ellabban AA, Monés J, Waheed NK, Ozdek S, Yalinbas D, Thiele S, de Moura Mendonça LS, Lee MY, Lee WK, Turcotte P, Capuano V, Filali Ansary M, Chakravarthy U, Lommatzsch A, Gunnemann F, Pauleikhoff D, Ip MS, Querques G, Holz FG, Spaide RF, Sadda S, Sarraf D
Br J Ophthalmol 2021 Oct;105(10):1415-1420. Epub 2020 Sep 12 doi: 10.1136/bjophthalmol-2020-317326. PMID: 32920528
Garrity ST, Sarraf D, Freund KB, Sadda SR
Invest Ophthalmol Vis Sci 2018 Mar 20;59(4):AMD48-AMD64. doi: 10.1167/iovs.18-24158. PMID: 30025107
Bedell HE, Tong J, Woo SY, House JR, Nguyen T
Optom Vis Sci 2009 May;86(5):485-91. doi: 10.1097/OPX.0b013e31819fa6e2. PMID: 19319009Free PMC Article
Smith RT, Chan JK, Nagasaki T, Ahmad UF, Barbazetto I, Sparrow J, Figueroa M, Merriam J
Arch Ophthalmol 2005 Feb;123(2):200-6. doi: 10.1001/archopht.123.2.200. PMID: 15710816Free PMC Article

Prognosis

Santina A, Romero-Morales V, Abraham N, Somisetty S, Fogel-Levin M, Bousquet E, Nudleman E, Sadda S, Sarraf D
Can J Ophthalmol 2023 Dec;58(6):592-600. Epub 2022 Sep 13 doi: 10.1016/j.jcjo.2022.08.005. PMID: 36108790
Hilely A, Au A, Freund KB, Loewenstein A, Souied EH, Zur D, Sacconi R, Borrelli E, Peiretti E, Iovino C, Sugiura Y, Ellabban AA, Monés J, Waheed NK, Ozdek S, Yalinbas D, Thiele S, de Moura Mendonça LS, Lee MY, Lee WK, Turcotte P, Capuano V, Filali Ansary M, Chakravarthy U, Lommatzsch A, Gunnemann F, Pauleikhoff D, Ip MS, Querques G, Holz FG, Spaide RF, Sadda S, Sarraf D
Br J Ophthalmol 2021 Oct;105(10):1415-1420. Epub 2020 Sep 12 doi: 10.1136/bjophthalmol-2020-317326. PMID: 32920528
Montesano G, Ometto G, Higgins BE, Iester C, Balaskas K, Tufail A, Chakravarthy U, Hogg RE, Crabb DP
Transl Vis Sci Technol 2020 Dec;9(13):43. Epub 2020 Dec 28 doi: 10.1167/tvst.9.13.43. PMID: 33442497Free PMC Article
Balasubramanian S, Lei J, Nittala MG, Velaga SB, Haines J, Pericak-Vance MA, Stambolian D, Sadda SR
Retina 2017 Oct;37(10):1880-1887. doi: 10.1097/IAE.0000000000001428. PMID: 28169876Free PMC Article
Curcio CA, Medeiros NE, Millican CL
Invest Ophthalmol Vis Sci 1996 Jun;37(7):1236-49. PMID: 8641827

Clinical prediction guides

Sanchez Moreno FR, Mansukhani SA, Bhatti MT, Chen JJ
J Neuroophthalmol 2023 Jun 1;43(2):209-213. Epub 2022 Oct 18 doi: 10.1097/WNO.0000000000001718. PMID: 36255080
Santina A, Romero-Morales V, Abraham N, Somisetty S, Fogel-Levin M, Bousquet E, Nudleman E, Sadda S, Sarraf D
Can J Ophthalmol 2023 Dec;58(6):592-600. Epub 2022 Sep 13 doi: 10.1016/j.jcjo.2022.08.005. PMID: 36108790
de Breuk A, Heesterbeek TJ, Bakker B, Verzijden T, Lechanteur YTE, Klaver CCW, den Hollander AI, Hoyng CB
JAMA Ophthalmol 2021 Nov 1;139(11):1218-1226. doi: 10.1001/jamaophthalmol.2021.4102. PMID: 34647987Free PMC Article
Balasubramanian S, Lei J, Nittala MG, Velaga SB, Haines J, Pericak-Vance MA, Stambolian D, Sadda SR
Retina 2017 Oct;37(10):1880-1887. doi: 10.1097/IAE.0000000000001428. PMID: 28169876Free PMC Article
Smith RT, Chan JK, Nagasaki T, Ahmad UF, Barbazetto I, Sparrow J, Figueroa M, Merriam J
Arch Ophthalmol 2005 Feb;123(2):200-6. doi: 10.1001/archopht.123.2.200. PMID: 15710816Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...