MCID: OPT001
MIFTS: 36

Optic Disk Drusen

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Optic Disk Drusen

MalaCards integrated aliases for Optic Disk Drusen:

Name: Optic Disk Drusen 11 43 14 71
Optic Disc Drusen 75 28 5
Optic Nerve Head Drusen 11
Drusen of Optic Disc 11
Drusen Optic Disc 53

Classifications:



External Ids:

Disease Ontology 11 DOID:13561
ICD9CM 34 377.21
MeSH 43 D015594
SNOMED-CT 68 33629003
UMLS 71 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary: Optic Disk Drusen, also known as optic disc drusen, is related to pseudopapilledema and retinitis. An important gene associated with Optic Disk Drusen is RHO (Rhodopsin), and among its related pathways/superpathways is Diseases of the neuronal system. Affiliated tissues include eye, retina and cortex, and related phenotypes are pigmentation and vision/eye

Wikipedia: 75 Optic disc drusen (ODD) are globules of mucoproteins and mucopolysaccharides that progressively calcify... more...

Related Diseases for Optic Disk Drusen

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

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 pseudopapilledema 30.8 PRSS56 CRB1
2 retinitis 30.2 RPGR RHO CRB1 ABCA4
3 pigmented paravenous chorioretinal atrophy 30.2 CRB1 ABCA4
4 primary angle-closure glaucoma 30.1 TMEM98 PRSS56
5 leber congenital amaurosis 8 30.1 CRB2 CRB1
6 progressive cone dystrophy 30.1 RPGR ABCA4
7 peripheral retinal degeneration 30.1 RPGR RHO ABCA4
8 basal laminar drusen 30.0 EFEMP1 BEST1 ABCA4
9 glaucoma, primary open angle 30.0 RHO PRSS56 EFEMP1 ABCA4
10 microphthalmia 29.9 TMEM98 PRSS56 MFRP BEST1
11 retinitis pigmentosa 12 29.9 RPGR CRB2 CRB1
12 macular retinal edema 29.8 RHO CRB1 BEST1 ABCA4
13 retinoschisis 1, x-linked, juvenile 29.6 RPGR RHO CRB1 BEST1 ABCA4
14 bietti crystalline corneoretinal dystrophy 29.6 RPGR CYP4V2 ABCA4
15 refractive error 29.4 TMEM98 RPGR RHO PRSS56 CRB1 BEST1
16 macular dystrophy, dominant cystoid 29.4 RPGR RHO CRB1 BEST1 ABCA4
17 scotoma 29.4 RPGR RHO CYP4V2 ABCA4
18 cone dystrophy 29.4 RPGR RHO CRB1 BEST1 ABCA4
19 retinal disease 29.4 RPGR RHO CRB1 BEST1 ABCA4
20 usher syndrome 29.4 RPGR RHO CRB1 BEST1 ABCA4
21 vitelliform macular dystrophy 29.3 RPGR RHO EFEMP1 CRB1 BEST1 ABCA4
22 macular degeneration, age-related, 1 29.3 RPGR RHO EFEMP1 CRB1 BEST1 ABCA4
23 late-onset retinal degeneration 29.0 RPGR RHO MFRP EFEMP1 CRB1 BEST1
24 gyrate atrophy of choroid and retina 29.0 RPGR RHO CYP4V2 BEST1 ABCA4
25 night blindness 29.0 RPGR RHO EFEMP1 CYP4V2 CRB1 ABCA4
26 nanophthalmos 28.7 TMEM98 RPGR RHO PRSS56 MFRP CRB1
27 retinal degeneration 28.5 RPGR RHO MFRP EFEMP1 CYP4V2 CRB1
28 leber plus disease 28.2 RPGR RHO PRSS56 CYP4V2 CRB2 CRB1
29 retinitis pigmentosa 27.8 RPGR RHO PRSS56 MFRP EFEMP1 CYP4V2
30 fundus dystrophy 27.3 TMEM98 RPGR RHO PRSS56 MFRP EFEMP1
31 microphthalmia, isolated 5 11.6
32 intraocular pressure quantitative trait locus 10.5
33 fanconi anemia, complementation group e 10.4
34 papilledema 10.4
35 progressive non-infectious anterior vertebral fusion 10.4
36 coloboma of macula 10.4
37 pseudoxanthoma elasticum 10.4
38 optic nerve disease 10.3
39 oculodentodigital dysplasia 10.3
40 3-methylglutaconic aciduria, type iii 10.3
41 optic neuritis 10.3
42 neuritis 10.3
43 open-angle glaucoma 10.3
44 ocular hypertension 10.3
45 central serous chorioretinopathy 10.3
46 nonarteritic anterior ischemic optic neuropathy 10.2
47 cataract 10.2
48 neuropathy 10.2
49 glaucoma 1, open angle, f 10.2
50 meningioma, familial 10.2

Graphical network of the top 20 diseases related to Optic Disk Drusen:



Diseases related to Optic Disk Drusen

Symptoms & Phenotypes for Optic Disk Drusen

MGI Mouse Phenotypes related to Optic Disk Drusen:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.65 ABCA4 BEST1 CRB1 CRB2 EFEMP1 MFRP
2 vision/eye MP:0005391 9.4 ABCA4 ABCC6 BEST1 CRB1 CRB2 CYP4V2

Drugs & Therapeutics for Optic Disk Drusen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnostic Value of Systematic Imaging Examination in Embedded Optic Disc Drusen in Adolescents With Mild Visual Impairment Unknown status NCT03957642
2 Spectral Domain Optic Cohaerence Tomography Imaging in Patients With Optic Nerve Head Drusen Completed NCT02793206
3 Non-Arteritic Anterior Ischemic Optic Neuropathy Risk Factors: New Perspectives Recruiting NCT05305079

Search NIH Clinical Center for Optic Disk Drusen

Cochrane evidence based reviews: optic disk drusen

Genetic Tests for Optic Disk Drusen

Genetic tests related to Optic Disk Drusen:

# Genetic test Affiliating Genes
1 Optic Disc Drusen 28

Anatomical Context for Optic Disk Drusen

Organs/tissues related to Optic Disk Drusen:

MalaCards : Eye, Retina, Cortex, Colon, Endothelial, Brain

Publications for Optic Disk Drusen

Articles related to Optic Disk Drusen:

(show top 50) (show all 569)
# Title Authors PMID Year
1
[Optic nerve drusen and angioid streaks in pseudoxanthoma elasticum]. 53 62
17605281 2007
2
Optic Disc Drusen. 62
35773065 2022
3
Optic Disc Drusen in Patients With Ocular Hypertension: A Case Series and Review of the Literature. 62
35916300 2022
4
The status of the choroid in patients with optic disc drusen. 62
35788860 2022
5
Multimodal imaging in a case of optic disc drusen with peripapillary choroidal neovascular membrane. 62
36357107 2022
6
An overview of peripapillary hyperreflective ovoid mass-like structures. 62
36094020 2022
7
Optic disc drusen prevalence in the retinitis pigmentosa population. 62
35217826 2022
8
Optic disc drusen in patients diagnosed with normal tension glaucoma. 62
36373859 2022
9
PROLIFERATIVE RETINOPATHY IN A 13-YEAR-OLD WITH ADAMS-OLIVER SYNDROME. 62
33323896 2022
10
Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report. 62
36320086 2022
11
The yield of ophthalmoscopy as a screening tool for intracranial pathology in pediatric headache. 62
36401633 2022
12
Peripapillary hyperreflective ovoid masslike structures in a pediatric population referred for suspected papilledema. 62
36189468 2022
13
Optic Nerve Head Anatomy and Vascular Risk Factors in Patients With Optic Disc Drusen Associated Anterior Ischemic Optic Neuropathy. 62
35764105 2022
14
Peripapillary hyperreflective ovoid mass-like structures: Multimodal imaging-A review. 62
36300762 2022
15
Comparison of Spectral-Domain OCT versus Swept-Source OCT for the Detection of Deep Optic Disc Drusen. 62
36292204 2022
16
Discriminating Between Papilledema and Optic Disc Drusen Using 3D Structural Analysis of the Optic Nerve Head. 62
36175153 2022
17
[Optical coherence tomography in the differential diagnostics of important neuro-ophthalmological disease patterns]. 62
35994098 2022
18
Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS) in Children: The Copenhagen Child Cohort 2000 Eye Study. 62
36108799 2022
19
Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration. 62
36088481 2022
20
Bilateral Optic Nerve Head Drusen Complicated by Choroidal Neovascularization Misdiagnosed as Papilledema and Neuroretinitis. 62
36107626 2022
21
Multimodal ocular imaging in Proteus syndrome. 62
36113118 2022
22
Peripapillary Vessel Density in Relation to Optic Disc Drusen: A Multimodal Optical Coherence Tomography Study. 62
36166786 2022
23
Short-term progression of optic disc and macular changes in optic nerve head drusen. 62
35842539 2022
24
Optic Nerve Drusen Evaluation: A Comparison between Ultrasound and OCT. 62
35806999 2022
25
Massive optic disc drusen suspected to cause venous compression. 62
35525828 2022
26
Multicolor Imaging of Optic Disc Drusen. 62
35482433 2022
27
Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome). 62
35355858 2022
28
[Optical coherence tomography in the differential diagnostics of important neuro-ophthalmological disease patterns]. 62
35612648 2022
29
Diabetic papillopathy in patients with optic disc drusen: Description of two different phenotypes. 62
35570569 2022
30
Detection of superficial and buried optic disc drusen with swept-source optical coherence tomography. 62
35562683 2022
31
Pseudoretinoblastoma: Distribution based on gender, age, and laterality. 62
35570796 2022
32
Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report. 62
34586238 2022
33
No Light Perception Vision in Neuro-Ophthalmology Practice. 62
34334760 2022
34
Multimodal Ophthalmic Imaging of Nonarteritic Anterior Ischemic Optic Neuropathy With and Without Optic Disc Drusen. 62
33870937 2022
35
Juxtapapillary Choroidal Neovascular Membrane as a Complication of Optic Disc Drusen: Multimodal Imaging With Swept Source-Optical Coherence Tomography and Optical Coherence Tomography Angiography. 62
35475858 2022
36
Volumetric Measurement of Peripapillary Hyperreflective Ovoid Masslike Structures in Patients with Optic Disc Drusen. 62
36246173 2022
37
[Observation of microstructure and vessel density changes in the superficial retinal layer in buried optic disc drusen patients]. 62
35280028 2022
38
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in children. 62
33731891 2022
39
Enhanced depth imaging optical coherence tomography of the optic nerve head improves correct diagnosis in glaucoma suspects without glaucomatous optic disc morphology. 62
35228245 2022
40
Evaluation of Peripapillary and Macular Vascular Flow Changes with OCT-A in Patients with Superficial Optic Disk Drusen. 62
35990302 2022
41
Clinical and Multi-Mode Imaging Features of Eyes With Peripapillary Hyperreflective Ovoid Mass-Like Structures. 62
35223899 2022
42
Visual field defects and retinal nerve fiber layer damage in buried optic disc drusen: a new insight. 62
36262850 2022
43
The Effects of Visual Field Loss from Optic Disc Drusen on Performance in a Driving Simulator. 62
36337223 2022
44
Enhanced Depth Imaging Optical Coherence Tomography Technology Reveals a Significant Association Between Optic Nerve Drusen Anterior Displacement and Retinal Nerve Fiber Layer Thinning Over Time. 62
33110003 2021
45
Branch retinal vein occlusion precipitated by compression between a major retinal artery and underlying optic disc drusen. 62
33880859 2021
46
Peripapillary Hyper-reflective Ovoid Mass-like Structure (PHOMS): An Optical Coherence Tomography Marker of Axoplasmic Stasis in the Optic Nerve Head. 62
33630781 2021
47
Diagnosis of optic nerve head drusen using enhanced depth imaging optical coherence tomography. 62
33435703 2021
48
[Radial optic neurotomy with optic disc drusen]. 62
33151351 2021
49
Inner retinal degeneration associated with optic nerve head drusen in pseudoxanthoma elasticum. 62
34670750 2021
50
OCT based interpretation of the optic nerve head anatomy in young adults with retinal vascular occlusions and ischemic optic neuropathy. 62
32907397 2021

Variations for Optic Disk Drusen

ClinVar genetic disease variations for Optic Disk Drusen:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic
523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
2 EFEMP1 NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) SNV Likely Pathogenic
523395 rs1553348960 GRCh37: 2:56097986-56097986
GRCh38: 2:55870851-55870851

Expression for Optic Disk Drusen

Search GEO for disease gene expression data for Optic Disk Drusen.

Pathways for Optic Disk Drusen

Pathways related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.64 RHO CYP4V2 ABCA4

GO Terms for Optic Disk Drusen

Cellular components related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.25 TMEM98 RHO MYORG MFRP CYP4V2 CRB2
2 membrane GO:0016020 10.25 TMEM98 RHO MYORG MFRP CYP4V2 CRB2
3 subapical complex GO:0035003 9.26 CRB2 CRB1
4 photoreceptor outer segment GO:0001750 9.23 RPGR RHO CRB1 ABCA4

Biological processes related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.76 RHO CRB2 CRB1 ABCA4
2 detection of light stimulus involved in visual perception GO:0050908 9.73 CRB1 BEST1
3 eye photoreceptor cell development GO:0042462 9.71 MFRP CRB1
4 cellular response to light stimulus GO:0071482 9.67 RHO CRB1
5 retina development in camera-type eye GO:0060041 9.65 RHO MFRP CRB1
6 response to stimulus GO:0050896 9.65 ABCA4 ABCC6 BEST1 CRB2 CYP4V2 RHO
7 phototransduction, visible light GO:0007603 9.62 RHO ABCA4
8 visual perception GO:0007601 9.6 RPGR RHO MFRP EFEMP1 CYP4V2 CRB2

Molecular functions related to Optic Disk Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 11-cis retinal binding GO:0005502 8.92 RHO ABCA4

Sources for Optic Disk Drusen

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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