MCID: OPT001
MIFTS: 34

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 44 15 70
Optic Disc Drusen 73 29 6
Optic Nerve Head Drusen 12
Drusen of Optic Disc 12
Drusen Optic Disc 54

Classifications:



External Ids:

Disease Ontology 12 DOID:13561
ICD9CM 34 377.21
MeSH 44 D015594
SNOMED-CT 67 33629003
ICD10 32 H47.32
UMLS 70 C0029128

Summaries for Optic Disk Drusen

MalaCards based summary : Optic Disk Drusen, also known as optic disc drusen, is related to yemenite deaf-blind hypopigmentation syndrome and macular retinal edema. An important gene associated with Optic Disk Drusen is RHO (Rhodopsin). Affiliated tissues include eye, retina and colon, and related phenotypes are pigmentation and vision/eye

Wikipedia : 73 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 163)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.5 RHO EFEMP1
2 macular retinal edema 30.3 RHO CRB1
3 nanophthalmos 30.3 RHO MFRP CRB1 CCNDBP1
4 scotoma 30.2 RPGR RHO CRB1
5 retinitis 30.1 RPGRIP1 RPGR RHO CRB1
6 retinoschisis 1, x-linked, juvenile 30.1 RPGR RHO CRB1
7 gyrate atrophy of choroid and retina 30.0 RPGR RHO
8 vitelliform macular dystrophy 30.0 RPGR RHO EFEMP1 CRB1
9 macular degeneration, age-related, 1 29.9 RPGR RHO EFEMP1 CRB1
10 night blindness 29.9 RPGR RHO EFEMP1 CRB1
11 leber plus disease 29.7 RPGRIP1 RPGR RHO CRB1
12 cone dystrophy 29.7 RPGRIP1 RPGR RHO CRB1
13 usher syndrome 29.7 RPGRIP1 RPGR RHO CRB1
14 retinal degeneration 29.3 RPGRIP1 RPGR RHO MFRP EFEMP1 CRB1
15 joubert syndrome 1 29.0 UNC119B RPGRIP1 RPGR RHO CRB1
16 retinitis pigmentosa 29.0 UNC119B RPGRIP1 RPGR RHO RCC1L MFRP
17 fundus dystrophy 28.6 UNC119B RPGRIP1 RPGR RHO RCC1L MFRP
18 microphthalmia, isolated 5 11.6
19 intraocular pressure quantitative trait locus 10.4
20 refractive error 10.4
21 papilledema 10.4
22 coloboma of macula 10.4
23 pseudopapilledema 10.3
24 neuroretinitis 10.3
25 optic nerve disease 10.3
26 optic neuritis 10.3
27 neuritis 10.3
28 pseudoxanthoma elasticum 10.3
29 ocular hypertension 10.3
30 central serous chorioretinopathy 10.3
31 solar retinopathy 10.3 RHO CRB1
32 chorioretinal scar 10.3 RHO CRB1
33 microphthalmia, isolated 6 10.2 MFRP CRB1
34 peripheral retinal degeneration 10.2 RHO CRB1
35 nonarteritic anterior ischemic optic neuropathy 10.2
36 cataract 10.2
37 neuropathy 10.2
38 3-methylglutaconic aciduria, type iii 10.2
39 meningioma, familial 10.2
40 intracranial meningioma 10.2
41 retinal ischemia 10.2
42 secretory meningioma 10.2
43 lymphoplasmacyte-rich meningioma 10.2
44 farsightedness 10.2
45 inherited retinal disorder 10.2
46 hereditary retinal dystrophy 10.2 RHO CRB1
47 red-green color blindness 10.1 RPGR RHO
48 degeneration of macula and posterior pole 10.1 RHO EFEMP1 CRB1
49 leber congenital amaurosis 6 10.1 RPGRIP1 CRB1
50 coloboma of optic nerve 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 CRB1 EFEMP1 MFRP RHO RPGR
2 vision/eye MP:0005391 9.17 CRB1 EFEMP1 MFRP RHO RPGR RPGRIP1

Drugs & Therapeutics for Optic Disk Drusen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spectral Domain Optic Cohaerence Tomography Imaging in Patients With Optic Nerve Head Drusen Completed NCT02793206
2 Diagnostic Value of Systematic Imaging Examination in Embedded Optic Disc Drusen in Adolescents With Mild Visual Impairment 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 29

Anatomical Context for Optic Disk Drusen

MalaCards organs/tissues related to Optic Disk Drusen:

40
Eye, Retina, Colon

Publications for Optic Disk Drusen

Articles related to Optic Disk Drusen:

(show top 50) (show all 362)
# Title Authors PMID Year
1
[Optic nerve drusen and angioid streaks in pseudoxanthoma elasticum]. 61 54
17605281 2007
2
Ipsilateral Recurrence of Optic Disc Drusen-Associated Anterior Ischemic Optic Neuropathy in a 15-Year-Old Boy. 61
32235222 2021
3
Approach to patient with unilateral optic disc edema and normal visual function. 61
33799215 2021
4
Optical Coherence Tomography Neuro-Toolbox for the Diagnosis and Management of Papilledema, Optic Disc Edema, and Pseudopapilledema. 61
32909979 2021
5
Microvascular alterations in children with optic disk drusen evaluated by optical coherence tomography angiography. 61
33057903 2021
6
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in children. 61
33731891 2021
7
Peripapillary hyperreflective ovoid mass-like structures (PHOMS): OCTA may reveal new findings. 61
32346103 2021
8
Peripapillary Haloes Associated With Optic Disc Drusen. 61
33595608 2021
9
Updates on ophthalmic imaging features of optic disc drusen, papilledema, and optic disc edema. 61
33278141 2021
10
Peripapillary Hyper-reflective Ovoid Mass-like Structure (PHOMS): An Optical Coherence Tomography Marker of Axoplasmic Stasis in the Optic Nerve Head. 61
33630781 2021
11
MFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome. 61
33626173 2021
12
Utility of spectral domain OCT in differentiating optic disc drusen from papilledema in children. 61
33454237 2021
13
Kinetic and static perimetry after 16 years and additional OCT-A analysis in eyes with long-lasting optic disc drusen. 61
33630902 2021
14
Diagnosing Optic Disc Drusen in the Modern Imaging Era: A Practical Approach. 61
33762782 2021
15
Multimodal Imaging Features of Optic Disc Drusen. 61
33485838 2021
16
Peripapillary vessel density in pediatric cases with buried optic disk drusen. 61
33459960 2021
17
Recent advances and future directions on the use of optical coherence tomography in neuro-ophthalmology. 61
33767951 2021
18
Optical coherence tomography (OCT) in neuro-ophthalmology. 61
33239763 2021
19
Optic disc drusen diagnosed by optical coherence tomography in a 3-year-old child. 61
33326175 2020
20
Should Patients With Optic Disc Drusen Be Treated With Intraocular Pressure-Lowering Medications? 61
32141977 2020
21
Posterior segment abnormalities in posterior microphthalmos. 61
32964171 2020
22
Proliferative Retinopathy in a 13-Year-Old with Adams-Oliver Syndrome. 61
33323896 2020
23
Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity. 61
33024887 2020
24
Angioid streaks and optic disc drusen in cherubism: a case report. 61
33470282 2020
25
Optical coherence tomography angiography in neuro-ophthalmology: Current clinical role and future perspectives. 61
33157113 2020
26
The Cause of Retinal and Choroidal Folds in Optic Disc Drusen. 61
32417390 2020
27
Multiplexed optical coherence tomography imaging of optic disc drusen. 61
33120676 2020
28
[Radial optic neurotomy with optic disc drusen]. 61
33151351 2020
29
Comment on: Morphologic Features of Buried Optic Disc Drusen on En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
32451062 2020
30
Reply to Comment on: Morphologic Features of Buried Optic Disc Drusen on En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
32473737 2020
31
Reply to Comment on: Morphologic Features of Buried Optic Disc Drusen on En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
32646543 2020
32
Comment on: Morphologic Features of Buried Optic Disc Drusen on En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
32546392 2020
33
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. 61
33110003 2020
34
Vision Loss in Optic Disc Drusen Correlates With Increased Macular Vessel Diameter and Flux and Reduced Peripapillary Vascular Density. 61
32360344 2020
35
Unilateral optic disc drusen mis-diagnosed as optic neuritis: Diagnostic and therapeutic implications. 61
33367185 2020
36
A Case of Polypoidal Choroidal Vasculopathy Associated With Optic Disc Drusen. 61
33047087 2020
37
Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study. 61
32108119 2020
38
Optic disc drusen in children: morphologic features using EDI-OCT. 61
31745329 2020
39
Review of Cohort Studies: A Companion Article to Malmqvist et al "Progression Over 5 Years of Prelaminar Hyperreflective Lines to Optic Disc Drusen in the Copenhagen Child Cohort 2000 Eye Study". 61
32796285 2020
40
Optic Disc Drusen Associated Anterior Ischemic Optic Neuropathy: Prevalence of Comorbidities and Vascular Risk Factors. 61
31972711 2020
41
OCT based interpretation of the optic nerve head anatomy in young adults with retinal vascular occlusions and ischemic optic neuropathy. 61
32907397 2020
42
Young Adults With Anterior Ischemic Optic Neuropathy: A Multicenter Optic Disc Drusen Study. 61
32298654 2020
43
Optic disc drusen: a systematic review : Up-to-date and future perspective. 61
32383130 2020
44
Longitudinal Development of Peripapillary Hyper-Reflective Ovoid Masslike Structures Suggests a Novel Pathological Pathway in Multiple Sclerosis. 61
32426856 2020
45
OCT angiography in optic disc drusen: comparison with structural and functional parameters. 61
31744797 2020
46
Determination of peripapillary vessel density in optic disc drusen using EDI-OCT and OCT angiography. 61
32619579 2020
47
Blood flow disturbances in the central retinal artery in patients with bilateral optic disc drusen. 61
32632126 2020
48
Coexistence of idiopathic intracranial hypertension and optic disc drusen in a latin american patient: case report. 61
32653311 2020
49
Morphologic Features of Buried Optic Disc Drusen on En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. 61
31987902 2020
50
Prevalence of Optic Disc Drusen in Young Patients With Nonarteritic Anterior Ischemic Optic Neuropathy: A 10-Year Retrospective Study. 61
32358432 2020

Variations for Optic Disk Drusen

ClinVar genetic disease variations for Optic Disk Drusen:

6
# 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

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 cell projection GO:0042995 9.35 UNC119B RPGRIP1 RPGR RHO CRB1
2 ciliary transition zone GO:0035869 9.16 UNC119B RPGRIP1
3 photoreceptor outer segment GO:0001750 8.8 RPGR RHO CRB1

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

# Name GO ID Score Top Affiliating Genes
1 eye photoreceptor cell development GO:0042462 9.33 RPGRIP1 MFRP CRB1
2 photoreceptor cell maintenance GO:0045494 9.32 RHO CRB1
3 cellular response to light stimulus GO:0071482 9.26 RHO CRB1
4 retina development in camera-type eye GO:0060041 9.26 RPGRIP1 RHO MFRP CRB1
5 visual perception GO:0007601 9.1 RPGRIP1 RPGR RHO MFRP EFEMP1 CRB1

Sources for Optic Disk 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
Content
Loading form....