MCID: MCL027
MIFTS: 45

Macular Dystrophy, Dominant Cystoid

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Dominant Cystoid

MalaCards integrated aliases for Macular Dystrophy, Dominant Cystoid:

Name: Macular Dystrophy, Dominant Cystoid 53 13
Autosomal Dominant Cystoid Macular Edema 55 69
Cystoid Macular Dystrophy 53 55
Macular Edema, Cystoid 53 69
Cystoid Macular Edema 12 14
Dcmd 53 55
Cystoid Macular Dystrophy; Cymd 53
Familial Macular Edema 55
Macular Retinal Edema 69
Macular Edema 41
Cymd 53
Mddc 53

Characteristics:

Orphanet epidemiological data:

55
cystoid macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant (7p21-p15)


HPO:

31
macular dystrophy, dominant cystoid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 153880
Disease Ontology 12 DOID:4447
MeSH 41 D008269
NCIt 46 C34794
SNOMED-CT 64 193387007
Orphanet 55 ORPHA75381
ICD10 via Orphanet 33 H35.5
MedGen 39 C0024440

Summaries for Macular Dystrophy, Dominant Cystoid

OMIM : 53 Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015). (153880)

MalaCards based summary : Macular Dystrophy, Dominant Cystoid, also known as autosomal dominant cystoid macular edema, is related to retinitis pigmentosa and macular retinal edema, and has symptoms including strabismus, macular dystrophy and hypermetropia. An important gene associated with Macular Dystrophy, Dominant Cystoid is CYMD (Cystoid Macular Dystrophy). The drugs Bevacizumab and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotype is vision/eye.

Related Diseases for Macular Dystrophy, Dominant Cystoid

Graphical network of the top 20 diseases related to Macular Dystrophy, Dominant Cystoid:



Diseases related to Macular Dystrophy, Dominant Cystoid

Symptoms & Phenotypes for Macular Dystrophy, Dominant Cystoid

Symptoms via clinical synopsis from OMIM:

53
Eyes:
cystoid macular edema
whitish punctate vitreous deposits
moderate to high hyperopia
strabismus
diminished visual acuity
more
Radiology:
normal electroretinogram


Clinical features from OMIM:

153880

Human phenotypes related to Macular Dystrophy, Dominant Cystoid:

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486
2 macular dystrophy 31 HP:0007754
3 hypermetropia 31 HP:0000540
4 cystoid macular edema 31 HP:0011505
5 pericentral retinitis pigmentosa 31 HP:0007947

UMLS symptoms related to Macular Dystrophy, Dominant Cystoid:


peau d'orange, edema

MGI Mouse Phenotypes related to Macular Dystrophy, Dominant Cystoid:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 BEST1 CRB1 MFRP PDE6A VEGFA

Drugs & Therapeutics for Macular Dystrophy, Dominant Cystoid

Drugs for Macular Dystrophy, Dominant Cystoid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 330)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
2
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
3
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1 347396-82-1 459903
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
5
Dorzolamide Approved Phase 4,Phase 2 120279-96-1 5284549 3154
6
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
7
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
8
Acetazolamide Approved, Vet_approved Phase 4,Phase 2 59-66-5 1986
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
11
Nepafenac Approved, Investigational Phase 4,Phase 3,Phase 2 78281-72-8 151075
12
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2 378-44-9 9782
13
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
14
Ephedrine Approved Phase 4,Phase 2,Phase 3 299-42-3 9294
15
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3 90-82-4 7028
16
Temazepam Approved, Investigational Phase 4,Phase 3 846-50-4 5391
17
Infliximab Approved Phase 4,Phase 3,Phase 1,Phase 2 170277-31-3
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19
Menthol Approved Phase 4 2216-51-5 16666
20
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 67-73-2 6215
21
Ketorolac Approved Phase 4,Phase 2,Phase 3,Phase 1 74103-06-3, 66635-83-4 3826
22
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
23
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
24 Homatropine Approved Phase 4 87-00-3
25
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
26
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
27
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
28
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5311221 5282380
29
Timolol Approved Phase 4,Phase 2 26839-75-8 5478 33624
30
Travoprost Approved Phase 4 157283-68-6 5282226
31
Insulin Glargine Approved Phase 4 160337-95-1
32
Zinc Approved, Investigational Phase 4 7440-66-6 32051 23994
33
Azathioprine Approved Phase 4 446-86-6 2265
34
Chlorambucil Approved Phase 4 305-03-3 2708
35
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
36
Daclizumab Approved, Investigational Phase 4 152923-56-3
37
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
38
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
39
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
40
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
41
Tacrolimus Approved, Investigational Phase 4,Phase 3 104987-11-3 445643 439492
42
Verteporfin Approved, Investigational Phase 4,Phase 1,Phase 2 129497-78-5
43
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
44
Empagliflozin Approved Phase 4 864070-44-0
45
Glimepiride Approved Phase 4 93479-97-1 3476
46
Difluprednate Approved Phase 4 23674-86-4 443936
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
48
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
49 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
50
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 143 6006

Interventional clinical trials:

(show top 50) (show all 739)

# Name Status NCT ID Phase Drugs
1 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
2 Multicenter Study to Evaluate the Efficacy of Treat and Extend Regimen of Aflibercept (EYLEA) as a Second Line Treatment for Diabetic Macular Edema Unknown status NCT02633852 Phase 4 Aflibercept
3 Retinal Ganglion Cell Function After Intravitreous Ranibizumab in Patients With Diabetic Macular Edema Unknown status NCT02055911 Phase 4 Ranibizumab
4 Combination OZURDEX® & LUCENTIS® vs. OZURDEX® Monotherapy in Incomplete-Responders With Diabetic Macular Edema Unknown status NCT02684084 Phase 4 Ozurdex;Lucentis
5 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
6 Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema Unknown status NCT02598869 Phase 4 Triamcinolone Acetonide
7 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
8 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
9 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
10 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
11 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
12 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
13 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
14 Laser Therapy Combined With Intravitreal Aflibercept vs Intravitreal Aflibercept Monotherapy (LADAMO) Unknown status NCT02432547 Phase 4 Aflibercept
15 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
16 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
17 Changes in Macular Thickness After Patterns Scan Laser Unknown status NCT00563628 Phase 4
18 Thiazolidinedione (TZD) on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
19 ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
20 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
21 A One-year Randomized Controlled Trial Evaluating the Impact of Pioglitazone Versus Linagliptin on Bone Turnover Markers Unknown status NCT02429232 Phase 4 Pioglitazone;Linagliptin
22 Intraocular Anti-VEGF Compared With Intraocular Triamcinolone in Patients With Diabetic Macular Edema Completed NCT00682539 Phase 4 Bevacizumab (Avastin);Triamcinolone;Sham
23 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4 Intravitreal injection of pegaptanib sodium
24 Ozurdex for Diabetic Macular Edema Treated With Pars Plana vitrEctomy and Membrane RemovAl (OPERA Study) Completed NCT01613716 Phase 4 Ozurdex
25 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
26 A Pilot Study on the Effect and Safety of Iluvien® in Chronic Diabetic Macular Edema Patients Completed NCT02359526 Phase 4 IlUVIEN
27 Topical Nepafenac as Supplement for Diabetic Macular Edema Completed NCT02443012 Phase 4 Topical Gutt Nepafenac 0.1%
28 TAHOE: Intravitreal Dexamethasone Implant (Ozurdex) for Uveitic Macular Edema Completed NCT01870440 Phase 4 Ozurdex Intravitreal Injection (0.7 mg)
29 Efficacy Study of Triamcinolone and Bevacizumab Intravitreal for Treatment of Diabetic Macular Edema Completed NCT00737971 Phase 4 Bevacizumab intravitreal;Triamcinolone;Triamcinolone + Bevacizumab
30 Anti-Vascular Endothelial Growth Factor (Anti-VEGF) Alone Versus Ozurdex Given Every 3 Months for Treatment of Persistent Diabetic Macular Edema Completed NCT02036424 Phase 4 Ozurdex;Bevacizumab
31 Ranibizumab Treatment of Diabetic Macular Oedema With Bimonthly Monitoring After a Phase of Initial Treatment Completed NCT01257815 Phase 4 Ranibizumab
32 Anti-inflammatory Efficacy for Prophylaxis of Cystoid Macular Edema (CME) After Phacoemulsification Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
33 Ozurdex as Adjunct to Avastin Compared to Avastin Alone in Treatment of Patients With Diabetic Macular Edema Completed NCT01309451 Phase 4 Bevacizumab;dexamethasone intravitreal implant
34 Randomized, Double Blind Trial of Bromfenac BID (0.09%) as an Adjunct to Argon Laser Therapy in the Treatment of Diabetic Macular Edema. Completed NCT00758628 Phase 4 Bromefenac;Blink
35 Avastin for Post-Photocoagulation Macular Edema Completed NCT00801866 Phase 4 Bevacizumab
36 A Study Evaluating Dosing Regimens for Treatment With Intravitreal Ranibizumab Injections in Subjects With Macular Edema Following Retinal Vein Occlusion Completed NCT01277302 Phase 4 Ranibizumab
37 Unilateral Bevacizumab for Bilateral Diabetic Macular Edema Completed NCT00496405 Phase 4 bevacizumab
38 Investigation of the Change of Vision-related Quality of Life in Subjects Treated With Aflibercept According to EU Label for DME. Completed NCT02581995 Phase 4 Eylea (Aflibercept, VEGF Trap-Eye, BAY86-5321)
39 CME With Different Fluidic Parameters Completed NCT01385852 Phase 4
40 Prophylactic Nepafenac and Ketorolac Versus Placebo in Patients Undergoing Cataract Surgery Completed NCT01395069 Phase 4 Nepafenac 0.1%;Ketorolac 0.5%
41 Bromfenac BID Plus Prednisolone Acetate BID Versus Bromfenac BID Plus Prednisolone QID for the Prevention of Cystoid Macular Edema and Retinal Thickening Completed NCT00469781 Phase 4 2. Xibrom (Bromfenac);1. Pred Forte
42 A Clinical Study in Current Medical Practice of the Efficacy and Safety of Ranibizumab 0.5mg in Diabetic Patients Presenting a Visual Impairment Due to Macular Edema Completed NCT01315275 Phase 4 Ranibizumab
43 Intraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema Completed NCT01546402 Phase 4 Dexamethasone Drug delivery system (Ozurdex)
44 Evaluation of Macugen Treatment of Macular Edema Due to Branch Retinal Vein Occlusion Completed NCT00406107 Phase 4 pegaptanib sodium (Macugen)
45 NEWTON: Aflibercept Injection for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
46 Ranibizumab "Treat and Extend" in Diabetic Macular Edma Completed NCT01297569 Phase 4 Ranibizumab
47 Comparison of Topical Ketorolac 0,4% Versus Placebo in Cataract Surgery Completed NCT01542190 Phase 4 Ketorolac Tromethamine
48 Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
49 Treatment of Acute Pseudophakic Cystoid Macular Edema: Bromfenac 0.09% Versus Diclofenac Sodium 0.1% Versus Ketorolac Tromethamine 0.5% Completed NCT00595543 Phase 4 Bromfenac;Ketorolac;Diclofenac
50 Efficacy and Safety of Lucentis® (Ranibizumab Intravitreal Injections) in Chilean Patients With Diabetic Macular Edema. Completed NCT02140411 Phase 4 Ranibizumab Intravitreal injections

Search NIH Clinical Center for Macular Dystrophy, Dominant Cystoid

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: macular edema

Genetic Tests for Macular Dystrophy, Dominant Cystoid

Anatomical Context for Macular Dystrophy, Dominant Cystoid

MalaCards organs/tissues related to Macular Dystrophy, Dominant Cystoid:

38
Eye, Endothelial, Retina, Testes, Bone, Monocytes

Publications for Macular Dystrophy, Dominant Cystoid

Articles related to Macular Dystrophy, Dominant Cystoid:

(show all 12)
# Title Authors Year
1
Dominant Cystoid Macular Dystrophy. ( 25267528 )
2014
2
Octreotide acetate in dominant cystoid macular dystrophy. ( 18203093 )
2008
3
Genomic structure and assessment of the retinally expressed RFamide- related peptide gene in dominant cystoid macular dystrophy. ( 11951088 )
2002
4
The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). ( 8905850 )
1996
5
Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. ( 7573063 )
1995
6
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. ( 8079997 )
1994
7
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. ( 8004098 )
1994
8
Acetazolamide in dominant cystoid macular dystrophy. A pilot study. ( 8233360 )
1993
9
Dominant cystoid macular dystrophy. ( 836665 )
1977
10
Dominant cystoid macular dystrophy [proceedings]. ( 904922 )
1977
11
Cystoid macular dystrophy. ( 931007 )
1977
12
Retinal functions in dominant cystoid macular dystrophy (DCMD). ( 990013 )
1976

Variations for Macular Dystrophy, Dominant Cystoid

Expression for Macular Dystrophy, Dominant Cystoid

Search GEO for disease gene expression data for Macular Dystrophy, Dominant Cystoid.

Pathways for Macular Dystrophy, Dominant Cystoid

GO Terms for Macular Dystrophy, Dominant Cystoid

Cellular components related to Macular Dystrophy, Dominant Cystoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 CRB1 KCNMA1 MFRP
2 photoreceptor inner segment GO:0001917 8.62 CRB1 MAK

Biological processes related to Macular Dystrophy, Dominant Cystoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.13 BEST1 MFRP PDE6A
2 eye photoreceptor cell development GO:0042462 8.8 CRB1 MFRP VEGFA

Sources for Macular Dystrophy, Dominant Cystoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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