MCID: OPT001
MIFTS: 40

Optic Disk Drusen

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Optic Disk Drusen

MalaCards integrated aliases for Optic Disk Drusen:

Name: Optic Disk Drusen 12 45 15 74
Optic Disc Drusen 77 30 6
Optic Nerve Head Drusen 12
Drusen of Optic Disc 12
Drusen Optic Disc 56

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD9CM 36 377.21
MeSH 45 D015594
SNOMED-CT 69 33629003
ICD10 34 H47.32
UMLS 74 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary : Optic Disk Drusen, also known as optic disc drusen, is related to macular dystrophy, dominant cystoid and angioid streaks. An important gene associated with Optic Disk Drusen is RHO (Rhodopsin), and among its related pathways/superpathways are Heart Development and NOTCH1 regulation of human endothelial cell calcification. The drugs Coal tar and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and colon, and related phenotype is nervous system.

Wikipedia : 77 Optic disc drusen (ODD) or optic nerve head drusen (ONHD) are globules of mucoproteins and... 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 85)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, dominant cystoid 30.6 MFRP VEGFA
2 angioid streaks 30.5 ABCC6 VEGFA
3 macular retinal edema 30.4 KCNMA1 MFRP VEGFA
4 yemenite deaf-blind hypopigmentation syndrome 30.2 RHO VEGFA
5 neuroretinitis 30.1 UBL4A VEGFA
6 optic nerve disease 30.0 CCNDBP1 MFRP UBL4A
7 microphthalmia, isolated 5 12.2
8 pseudopapilledema 11.7
9 papilledema 10.4
10 elastosis perforans serpiginosa 10.3 ABCC6 ELN
11 retinitis pigmentosa 19 10.3 KCNMA1 RHO
12 cancer-associated retinopathy 10.3 RHO VEGFA
13 vitreous detachment 10.3 KCNMA1 VEGFA
14 wrinkles 10.3 ELN VEGFA
15 cataract 10.2
16 coloboma of macula 10.2
17 pseudoxanthoma elasticum 10.2
18 microphthalmia 10.2
19 fundus dystrophy 10.2 ELN MFRP RHO
20 chorioretinal scar 10.2 ABCC6 NOTCH1 RHO
21 coats disease 10.2 RHO VEGFA
22 macular holes 10.1 KCNMA1 VEGFA
23 aortic valve insufficiency 10.1 ELN NOTCH1
24 acute retrobulbar neuritis 10.1 RHO UBL4A
25 melanoma, uveal 10.1
26 intracranial hypertension, idiopathic 10.1
27 oliver syndrome 10.1
28 nonarteritic anterior ischemic optic neuropathy 10.1
29 retinitis pigmentosa 10.1
30 leber congenital amaurosis 4 10.1
31 nanophthalmos 2 10.1
32 glycogen storage disease 10.1
33 ischemic optic neuropathy 10.1
34 adams-oliver syndrome 10.1
35 branch retinal artery occlusion 10.1
36 central retinal artery occlusion 10.1
37 poems syndrome 10.1
38 melanoma 10.1
39 retinitis 10.1
40 retinal artery occlusion 10.1
41 neuropathy 10.1
42 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
44 leber congenital amaurosis 10.1
45 retinal vein occlusion 10.1
46 vitelliform macular dystrophy 10.1
47 malignant hypertension 10.1
48 neovascular glaucoma 10.1
49 calcinosis 10.1
50 central retinal vein occlusion 10.1

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 INSC KCNMA1 MFRP NOTCH1 RHO SLC37A4

Drugs & Therapeutics for Optic Disk Drusen

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 1, Phase 2 8007-45-2
2 Anesthetics Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
2 Spectral Domain OCT Imaging in Patients With Optic Nerve Head Drusen (Tuebingen SD-OCT IN OPTIC NERVE HEAD DRUSEN STUDY) Completed NCT02793206
3 Video Diversion During Fundoscopic Exam in Children Completed NCT01673815 Not Applicable
4 Systematic Imaging Examination in ODD Recruiting NCT03957642

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 30

Anatomical Context for Optic Disk Drusen

MalaCards organs/tissues related to Optic Disk Drusen:

42
Retina, Eye, Colon, Heart, Tongue

Publications for Optic Disk Drusen

Articles related to Optic Disk Drusen:

(show top 50) (show all 147)
# Title Authors Year
1
The Influence of Volume and Anatomic Location of Optic Disc Drusen on the Sensitivity of Autofluorescence. ( 29649006 )
2019
2
Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept. ( 30642868 )
2019
3
Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis. ( 30367617 )
2018
4
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). ( 31047555 )
2018
5
Optic Disc Drusen in Children: The Copenhagen Child Cohort 2000 Eye Study. ( 28841585 )
2018
6
The Optic Disc Drusen Studies Consortium Recommendations for Diagnosis of Optic Disc Drusen Using Optical Coherence Tomography. ( 29095768 )
2018
7
Retrobulbar axonal degeneration due to optic disc drusen. ( 29280548 )
2018
8
Optic disc drusen: understanding an old problem from a new perspective. ( 29659172 )
2018
9
Factors associated with visual field defects of optic disc drusen. ( 29708976 )
2018
10
Peripapillary Hyperreflective Ovoid Mass-Like Structures: Is It Optic Disc Drusen or Not? ( 29901492 )
2018
11
Peripapillary Hyperreflective Ovoid Mass-Like Structures: Is It Optic Disc Drusen or Not?: Response. ( 29901493 )
2018
12
The Role of Optical Coherence Tomography in Differentiating Optic Disc Drusen from Optic Disc Edema. ( 29998632 )
2018
13
Chiari 1 malformation with optic disc drusen. ( 30042799 )
2018
14
A Review of Optic Disc Drusen in Children. ( 30239364 )
2018
15
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. ( 28659124 )
2017
16
Choroidal neovascularization complicating optic disc drusen, mistaken for Bartonella neuroretinitis. ( 27730317 )
2017
17
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
18
Optic disc drusen: longitudinal aspects, with emphasis on visual field constriction and enlarged blind spot: a retrospective hospital-based clinical series. ( 27646322 )
2017
19
Long-term evolution of superficial optic disc drusen. ( 27996202 )
2017
20
Differentiation between optic disc drusen and optic disc oedema using fundus photography. ( 28084042 )
2017
21
Multifocal visual evoked potentials for quantifying optic nerve dysfunction in patients with optic disc drusen. ( 28139892 )
2017
22
Photographic Documentation of Optic Disc Drusen Over More Than 50 Years. ( 28278345 )
2017
23
Bilateral optic disc drusen mimicking papilloedema. ( 28404619 )
2017
24
Fundus autofluorescence in the buried optic disc drusen: optical coherence tomography findings. ( 28457302 )
2017
25
Quantitatively Measured Anatomic Location and Volume of Optic Disc Drusen: An Enhanced Depth Imaging Optical Coherence Tomography Study. ( 28460051 )
2017
26
Focal Capillary Dropout Associated With Optic Disc Drusen Using Optical Coherence Tomographic Angiography. ( 28520583 )
2017
27
Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey. ( 28991151 )
2017
28
Substantial Visual Field Loss Associated With Giant Optic Disc Drusen. ( 29242932 )
2017
29
Increased Prevalence of Optic Disc Drusen after Papilloedema from Idiopathic Intracranial Hypertension: On the Possible Formation of Optic Disc Drusen. ( 27928403 )
2016
30
PSEUDO UVEAL MELANOMA CAUSED BY OPTIC DISK DRUSEN WITH JUXTAPAPILLARY CHOROIDAL NEOVASCULAR MEMBRANE. ( 26444522 )
2016
31
Optic disk drusen in children. ( 27033945 )
2016
32
Optic disc drusen demonstrate a hyperechogenic artifact in B mode ultrasound. ( 26412252 )
2016
33
Peripapillary Retinal Nerve Fiber Layer Thickness Corresponds to Drusen Location and Extent of Visual Field Defects in Superficial and Buried Optic Disc Drusen. ( 26720518 )
2016
34
Optic Disc Drusen in a Pediatric Patient - Diagnosis and Counselling of Family. ( 27806825 )
2016
35
Imaging Methods in the Diagnosis of Optic Disc Drusen. ( 28058166 )
2016
36
Unilateral Acute Anterior Ischemic Optic Neuropathy in a Patient with an Already Established Diagnosis of Bilateral Optic Disc Drusen. ( 26550507 )
2015
37
Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome. ( 25383852 )
2015
38
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 26296786 )
2015
39
Optic disc drusen mimicking papilledema in an infant with Joubert syndrome. ( 26043505 )
2015
40
Gyrate atrophy of the choroid and retina with cystoid macular edema and unilateral optic disc drusen. ( 25643373 )
2015
41
Optic disc drusen associated with optic nerve tumors. ( 25811268 )
2015
42
Case report of optic disc drusen with simultaneous peripapillary subretinal hemorrhage and central retinal vein occlusion. ( 25544921 )
2014
43
Radial optic neurotomy as a treatment for anterior ischemic optic neuropathy secondary to optic disc drusen. ( 27625940 )
2014
44
The cost-effectiveness of different strategies to evaluate optic disk drusen in children. ( 25266841 )
2014
45
Point-of-care ultrasonography for the identification of 2 children with optic disc drusen mimicking papilledema. ( 24987997 )
2014
46
Severe and acute loss of visual field in a young patient with optic disc drusen. ( 24360914 )
2014
47
Visual field loss in optic disc drusen patients correlates with central retinal artery blood velocity patterns. ( 24456173 )
2014
48
Retinal hemorrhages as one of complications of optic disc drusen during pregnancy. ( 25033580 )
2014
49
Optical coherence tomography demonstrating macular retinal nerve fiber thinning in advanced optic disc drusen. ( 25136235 )
2014
50
Disc edge veins of Kraupa associated with optic disc drusen. ( 27625942 )
2014

Variations for Optic Disk Drusen

ClinVar genetic disease variations for Optic Disk Drusen:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh38 Chromosome 2, 55870851: 55870851
2 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh37 Chromosome 2, 56097986: 56097986
3 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh37 Chromosome 3, 129251570: 129251570
4 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 GRCh38 Chromosome 3, 129532727: 129532727

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 10.46 NOTCH1 TBX1 VEGFA
2 10.41 NOTCH1 VEGFA
3 10.19 NOTCH1 VEGFA

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 apical plasma membrane GO:0016324 8.92 ABCC6 KCNMA1 MFRP NOTCH1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.75 ABCC6 MFRP RHO
2 mesoderm development GO:0007498 9.58 TBX1 VEGFA
3 positive regulation of epithelial cell proliferation GO:0050679 9.58 NOTCH1 TBX1 VEGFA
4 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.57 NOTCH1 VEGFA
5 sprouting angiogenesis GO:0002040 9.56 NOTCH1 VEGFA
6 branching morphogenesis of an epithelial tube GO:0048754 9.55 NOTCH1 VEGFA
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 TBX1 VEGFA
8 artery morphogenesis GO:0048844 9.52 TBX1 VEGFA
9 positive regulation of neuroblast proliferation GO:0002052 9.51 NOTCH1 VEGFA
10 aortic valve morphogenesis GO:0003180 9.49 ELN NOTCH1
11 cell fate specification GO:0001708 9.48 NOTCH1 TBX1
12 eye photoreceptor cell development GO:0042462 9.46 MFRP VEGFA
13 tube formation GO:0035148 9.43 NOTCH1 VEGFA
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.37 NOTCH1 VEGFA
15 cardiac vascular smooth muscle cell development GO:0060948 9.32 NOTCH1 VEGFA
16 vasculogenesis involved in coronary vascular morphogenesis GO:0060979 9.26 NOTCH1 SPRED1
17 outflow tract morphogenesis GO:0003151 9.26 ELN NOTCH1 TBX1 VEGFA
18 coronary vein morphogenesis GO:0003169 9.16 NOTCH1 VEGFA
19 coronary artery morphogenesis GO:0060982 8.8 NOTCH1 TBX1 VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.62 ELN VEGFA

Sources for Optic Disk Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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