MCID: RTN006
MIFTS: 33

Retinal Drusen

Categories: Neuronal diseases

Aliases & Classifications for Retinal Drusen

MalaCards integrated aliases for Retinal Drusen:

Name: Retinal Drusen 12 44 15 17 70

Classifications:



External Ids:

Disease Ontology 12 DOID:2569
ICD9CM 34 362.57
MeSH 44 D015593
SNOMED-CT 67 141199000
UMLS 70 C0035312

Summaries for Retinal Drusen

MalaCards based summary : Retinal Drusen is related to basal laminar drusen and sorsby fundus dystrophy. An important gene associated with Retinal Drusen is CFH (Complement Factor H), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Staphylococcus aureus infection. The drugs Bevacizumab and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial, and related phenotypes are Decreased viability with paclitaxel and Decreased viability with paclitaxel

Related Diseases for Retinal Drusen

Diseases related to Retinal Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 basal laminar drusen 30.4 HMCN1 FBLN5 EFEMP1 CFH CFB C2
2 sorsby fundus dystrophy 29.8 TIMP3 ELOVL4 CFHR2 ARMS2
3 doyne honeycomb retinal dystrophy 28.7 TIMP3 HMCN1 FBLN5 FBLN1 ERCC6 ELOVL4
4 eye disease 27.8 HMCN1 FBLN5 ERCC6 CFI CFHR2 CFH
5 fundus dystrophy 27.6 TIMP3 HMCN1 ERCC6 ELOVL4 EFEMP1 CFHR3
6 macular degeneration, age-related, 1 26.8 TIMP3 HMCN1 FBLN5 ERCC6 ELOVL4 EFEMP1
7 central serous chorioretinopathy 10.3 CFH ARMS2
8 bullous retinoschisis 10.3 CFH ARMS2
9 complement factor b deficiency 10.3 CFB C2
10 louse-borne relapsing fever 10.3 CFH C3
11 degenerative myopia 10.3 CFH ARMS2
12 tick-borne relapsing fever 10.3 CFHR2 C3
13 multifocal choroiditis 10.3 CFH CFB ARMS2
14 macular degeneration, age-related, 14 10.3 CFB C2
15 enterocolitis 10.3 CFH CFB C3
16 histoplasmosis 10.2 CFH C3 ARMS2
17 angioid streaks 10.2 CFHR2 CFH ARMS2
18 complement component 3 deficiency 10.2 CFHR2 CFH C3
19 bladder diverticulum 10.2 FBLN5 EFEMP1
20 severe pre-eclampsia 10.2 CFH CFB C3
21 relapsing fever 10.2 CFHR2 CFH C3
22 toxic maculopathy 10.2 ARMS2 ABCA4
23 complement component 5 deficiency 10.2 CFHR2 C3
24 meningococcal meningitis 10.2 CFHR2 CFH
25 lens disease 10.2 ERCC6 CFHR2 CFH
26 iga glomerulonephritis 10.2 CFHR2 CFH C3
27 de novo thrombotic microangiopathy after kidney transplantation 10.2 CFI CFH
28 skeletal tuberculosis 10.1 CFHR2 CFHR1
29 complement component 2 deficiency 10.1 CFH CFB C2 ARMS2
30 interval angle-closure glaucoma 10.1 BEST1 ABCA4
31 kuhnt-junius degeneration 10.1 CFHR2 CFH CFB ARMS2
32 dense deposit disease 10.1 CFHR2 CFH CFB C3
33 nonsyndromic retinitis pigmentosa 10.1 BEST1 ABCA4
34 stargardt macular degeneration 10.1 ELOVL4 ABCA4
35 membranoproliferative glomerulonephritis 10.1 CFHR2 CFH CFB C3
36 blood platelet disease 10.1 CFHR2 CFH C3
37 chorioretinal scar 10.1 BEST1 ABCA4
38 yemenite deaf-blind hypopigmentation syndrome 10.1 EFEMP1 CFH ABCA4
39 acute poststreptococcal glomerulonephritis 10.1 CFHR2 C3
40 blood coagulation disease 10.1 CFHR2 CFH C3
41 stargardt disease 3 10.1 ELOVL4 ABCA4
42 peripheral retinal degeneration 10.1 BEST1 ABCA4
43 macular dystrophy, dominant cystoid 10.1 BEST1 ABCA4
44 complement factor i deficiency 10.1 CFI C3
45 isolated macular dystrophy 10.0 BEST1 ABCA4
46 retinitis pigmentosa 19 10.0 ELOVL4 ABCA4
47 choroiditis 10.0 CFH CFB ARMS2 ABCA4
48 familial drusen 10.0 EFEMP1 CFI CFH
49 gyrate atrophy of choroid and retina 10.0 CFHR2 BEST1 ABCA4
50 thrombotic thrombocytopenic purpura 10.0 CFI CFH C3

Graphical network of the top 20 diseases related to Retinal Drusen:



Diseases related to Retinal Drusen

Symptoms & Phenotypes for Retinal Drusen

GenomeRNAi Phenotypes related to Retinal Drusen according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00207-A-2 8.8 CFHR1 FBLN5
2 Decreased viability with paclitaxel GR00207-A-3 8.8 CFHR1

MGI Mouse Phenotypes related to Retinal Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.02 ABCA4 C3 CFB CFH CFI EFEMP1
2 muscle MP:0005369 9.8 C3 CFH EFEMP1 ERCC6 FBLN1 FBLN5
3 pigmentation MP:0001186 9.63 ABCA4 BEST1 CFH EFEMP1 ELOVL4 TIMP3
4 renal/urinary system MP:0005367 9.5 C3 CFB CFH CFI EFEMP1 FBLN1
5 vision/eye MP:0005391 9.32 ABCA4 BEST1 C3 CFH EFEMP1 ELOVL4

Drugs & Therapeutics for Retinal Drusen

Drugs for Retinal Drusen (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational 216974-75-3
2
Vitamin A Approved, Nutraceutical, Vet_approved Early Phase 1 68-26-8, 11103-57-4 445354
3 Carotenoids
4 Nutrients Early Phase 1
5 Trace Elements Early Phase 1
6 retinol Early Phase 1
7 Retinol palmitate Early Phase 1
8 Micronutrients Early Phase 1
9 Vitamins Early Phase 1
10 Antioxidants Early Phase 1
11 Protective Agents Early Phase 1
12 Angiogenesis Inhibitors
13 Antineoplastic Agents, Immunological
14 Mitogens
15 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Evaluation of a Micronized, Lipid-based Carotenoid Supplement in Eyes With Retinal Drusen Completed NCT03946085
2 Subthreshold Laser Treatment for Reticular Pseudodrusen and Incipient Geographic Atrophy Secondary to Age - Related Macular Degeneration: a Pilot Study Completed NCT02800356
3 A Population-based Study of Macular Choroidal Neovascularization Using Optical Coherence Tomography in a Chinese Population Completed NCT01666821
4 An Investigation of Vitamin A Palmitate Supplementation in Patients With Reticular Pseudodrusen (RPD) and Delayed Dark Adaptation Recruiting NCT03478878 Early Phase 1 Vitamin A Palmitate
5 Focal Subthreshold Laser Treatment for Macular Drusen Active, not recruiting NCT02960828 intravitreal Anti-VEGF injection
6 Non-Damaging Photothermal Therapy of Non-exudative Age Related Macular Degeneration Active, not recruiting NCT02569892

Search NIH Clinical Center for Retinal Drusen

Cochrane evidence based reviews: retinal drusen

Genetic Tests for Retinal Drusen

Anatomical Context for Retinal Drusen

MalaCards organs/tissues related to Retinal Drusen:

40
Eye, Endothelial

Publications for Retinal Drusen

Articles related to Retinal Drusen:

(show all 41)
# Title Authors PMID Year
1
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia. 61
33689237 2021
2
PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME. 61
29979251 2021
3
Visual Function and Macular Carotenoid Changes in Eyes with Retinal Drusen-An Open Label Randomized Controlled Trial to Compare a Micronized Lipid-Based Carotenoid Liquid Supplementation and AREDS-2 Formula. 61
33114566 2020
4
Prevalence of Age-related Maculopathy: The Beaver Dam Eye Study. 61
32200811 2020
5
Association of Visual Function Measures with Drusen Volume in Early Stages of Age-Related Macular Degeneration. 61
32232348 2020
6
On the origin of proteins in human drusen: The meet, greet and stick hypothesis. 61
30572124 2019
7
Interplay between Autophagy and the Ubiquitin-Proteasome System and Its Role in the Pathogenesis of Age-Related Macular Degeneration. 61
30626110 2019
8
Calcified nodules in retinal drusen are associated with disease progression in age-related macular degeneration. 61
30404862 2018
9
ABNORMAL QUIESCENT NEOVASCULARIZATION IN A PATIENT WITH LARGE COLLOID DRUSEN VISUALIZED BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. 61
29064855 2018
10
Association of Anticholinergic Drug Use With Risk for Late Age-Related Macular Degeneration. 61
29800005 2018
11
Cloudy Cornea with Arcus Juvenilis in a Case of Dense Deposit Disease. 61
29950499 2018
12
Multimodal imaging of small hard retinal drusen in young healthy adults. 61
29051326 2018
13
Ophthalmic Findings in Patients After Renal Transplantation. 61
28838433 2017
14
Fluorescence Lifetimes of Drusen in Age-Related Macular Degeneration. 61
28973332 2017
15
Choroidal Neovascularization and Geographic Atrophy are Potential Complications of Early Onset Large Colloid Drusen. 61
28728186 2017
16
Automated intraretinal segmentation of SD-OCT images in normal and age-related macular degeneration eyes. 61
28663874 2017
17
Retinal disease in the C3 glomerulopathies and the risk of impaired vision. 61
26915021 2016
18
AMD-like retinopathy associated with intravenous iron. 61
27565570 2016
19
Aquaporin-1 Expression in Retinal Pigment Epithelial Cells Overlying Retinal Drusen. 61
26871693 2016
20
[Drusen characteristics after internal limiting membrane peeling]. 61
24549686 2015
21
Complement system activation and endothelial dysfunction in patients with age-related macular degeneration (AMD): possible relationship between AMD and atherosclerosis. 61
22067048 2012
22
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. 61
22053834 2011
23
The prevalence of age-related macular degeneration and associated risk factors. 61
20547953 2010
24
Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease. 61
21603348 2010
25
Retinal drusen: harbingers of age, safe havens for trouble. 61
19726434 2009
26
The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms. 61
19019939 2009
27
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. 61
18936151 2009
28
[Pathological kinking of carotid arteries as a risk factor for age-related macular degeneration]. 61
19791582 2009
29
Complement factor H binds to denatured rather than to native pentameric C-reactive protein. 61
18786923 2008
30
[Assessment of the clinical and functional results of laser coagulation of retinal drusen in the central zone of the eye grounds]. 61
18078053 2007
31
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. 61
17460291 2007
32
[Effect of vasoactive agents on visual functions and ocular blood flow in patients with early manifestations of age-related macular degeneration]. 61
17672091 2007
33
Mapping of a macular drusen susceptibility locus in rhesus macaques to the homologue of human chromosome 6q14-15. 61
16185951 2005
34
Ten-year incidence and progression of age-related maculopathy: The Beaver Dam eye study. 61
12359593 2002
35
Reduced amplitude and delayed latency in foveal response of multifocal electroretinogram in early age related macular degeneration. 61
11222332 2001
36
Alcohol consumption and the 5-year incidence of age-related maculopathy: the Beaver Dam eye study. 61
9593377 1998
37
New developments in retinal drusen. 61
9692044 1998
38
The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study. 61
9022098 1997
39
Prevalence of age-related maculopathy. The Beaver Dam Eye Study. 61
1630784 1992
40
[Differentiation and prognosis of colloidal retinal dystrophy]. 61
2334972 1990
41
North Carolina macular dystrophy, revisited. 61
2622620 1989

Variations for Retinal Drusen

Expression for Retinal Drusen

Search GEO for disease gene expression data for Retinal Drusen.

Pathways for Retinal Drusen

Pathways related to Retinal Drusen according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.83 CFI CFHR3 CFH CFB C3 C2
2 11.64 CFI CFH CFB C3 C2
3
Show member pathways
11.59 CFI CFHR3 CFH CFB C3 C2
4
Show member pathways
11.45 CFB C3 C2
5 11.39 CFI CFHR3 CFHR2 CFHR1 CFH CFB
6
Show member pathways
11.36 FBLN5 FBLN1 EFEMP1

GO Terms for Retinal Drusen

Cellular components related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 HMCN1 FBLN5 FBLN1 EFEMP1 CFI CFHR3
2 collagen-containing extracellular matrix GO:0062023 9.72 TIMP3 HMCN1 FBLN5 FBLN1 EFEMP1
3 extracellular matrix GO:0031012 9.71 TIMP3 FBLN5 FBLN1 EFEMP1
4 extracellular space GO:0005615 9.7 TIMP3 FBLN5 FBLN1 EFEMP1 CFI CFHR3
5 blood microparticle GO:0072562 9.55 CFHR3 CFHR1 CFH CFB C3
6 extracellular region GO:0005576 9.44 TIMP3 HMCN1 FBLN5 FBLN1 EFEMP1 CFI
7 elastic fiber GO:0071953 9.37 FBLN5 FBLN1

Biological processes related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.83 CFI CFH CFB C3 C2
2 innate immune response GO:0045087 9.8 CFI CFH CFB C3 C2
3 visual perception GO:0007601 9.65 TIMP3 HMCN1 EFEMP1 BEST1 ABCA4
4 complement activation, classical pathway GO:0006958 9.63 CFI C3 C2
5 cytolysis by host of symbiont cells GO:0051838 9.37 CFHR2 CFHR1
6 complement activation GO:0006956 9.35 CFHR1 CFH CFB C3 C2
7 complement activation, alternative pathway GO:0006957 9.33 CFH CFB C3
8 positive regulation of apoptotic cell clearance GO:2000427 9.32 C3 C2
9 regulation of complement activation GO:0030449 9.17 CFI CFHR2 CFHR1 CFH CFB C3

Molecular functions related to Retinal Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 9.13 CFI CFB C2
2 extracellular matrix structural constituent GO:0005201 8.8 HMCN1 FBLN1 EFEMP1

Sources for Retinal Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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