MCID: MCL027
MIFTS: 39

Macular Dystrophy, Dominant Cystoid

Categories: Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Macular Dystrophy, Dominant Cystoid

MalaCards integrated aliases for Macular Dystrophy, Dominant Cystoid:

Name: Macular Dystrophy, Dominant Cystoid 54 13
Autosomal Dominant Cystoid Macular Edema 56 69
Cystoid Macular Edema 12 14
Cystoid Macular Dystrophy 56
Familial Macular Edema 56
Macular Edema, Cystoid 69
Macular Retinal Edema 69
Macular Edema 42
Dcmd 56

Characteristics:

Orphanet epidemiological data:

56
cystoid macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant (7p21-p15)


HPO:

32
macular dystrophy, dominant cystoid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 153880
Disease Ontology 12 DOID:4447
MeSH 42 D008269
NCIt 47 C34794
SNOMED-CT 64 193387007
Orphanet 56 ORPHA75381
ICD10 via Orphanet 34 H35.5
UMLS 69 C0024440

Summaries for Macular Dystrophy, Dominant Cystoid

OMIM : 54
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 vitreoretinochoroidopathy dominant, and has symptoms including strabismus, hypermetropia and macular dystrophy. 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

Diseases related to Macular Dystrophy, Dominant Cystoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
id Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.5
2 vitreoretinochoroidopathy dominant 11.1
3 vitreoretinopathy, neovascular inflammatory 11.1
4 retinitis 10.8
5 cataract 10.6
6 uveitis 10.6
7 retinal vein occlusion 10.5
8 retinal detachment 10.3
9 choroiditis 10.3
10 central retinal vein occlusion 10.3
11 erythema elevatum diutinum 10.3 MRAP VEGFA
12 conjugate gaze palsy 10.3 MRAP VEGFA
13 cytomegalovirus retinitis 10.3
14 perineurioma 10.3 MRAP VEGFA
15 macular holes 10.2
16 endotheliitis 10.2
17 acute allergic mucoid otitis media 10.1 MRAP VEGFA
18 testicular granulosa cell tumor 10.1 CAPN5 VEGFA
19 intermediate uveitis 10.1
20 melanoma 10.1
21 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 10.1 CRB1 VEGFA
22 corneal edema 10.1
23 malignant granular cell skin tumor 10.0 KCNMA1 VEGFA
24 birdshot chorioretinopathy 10.0
25 central retinal artery occlusion 10.0
26 acquired immunodeficiency syndrome 10.0
27 poems syndrome 10.0
28 ocular hypotension 10.0
29 papilledema 10.0
30 retinal artery occlusion 10.0
31 neuropathy 10.0
32 ocular hypertension 10.0
33 retinal vasculitis 9.8
34 keratoconjunctivitis 9.8
35 arthritis 9.8
36 lyme disease 9.8
37 churg-strauss syndrome 9.8
38 refractive error 9.8
39 astigmatism 9.8
40 best vitelliform macular dystrophy 9.8
41 crohn's disease 9.8
42 chronic progressive external ophthalmoplegia 9.8
43 myopathy 9.8
44 acute posterior multifocal placoid pigment epitheliopathy 9.8
45 hemangioma 9.8
46 telangiectasis 9.8
47 endophthalmitis 9.8
48 anterior uveitis 9.8
49 hepatitis 9.8
50 central serous chorioretinopathy 9.8

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:

54

Radiology:
normal electroretinogram

Eyes:
pericentral retinitis pigmentosa
diminished visual acuity
moderate to high hyperopia
strabismus
cystoid macular edema
more

Clinical features from OMIM:

153880

Human phenotypes related to Macular Dystrophy, Dominant Cystoid:

32
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 hypermetropia 32 HP:0000540
3 macular dystrophy 32 HP:0007754
4 cystoid macular edema 32 HP:0011505
5 pericentral retinitis pigmentosa 32 HP:0007947

UMLS symptoms related to Macular Dystrophy, Dominant Cystoid:


edema, joint swelling

MGI Mouse Phenotypes related to Macular Dystrophy, Dominant Cystoid:

44
id 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 321)
id 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 3154 5284549
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 Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
10
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
11
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2 378-44-9 9782
12
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
13
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
14
Infliximab Approved Phase 4,Phase 3,Phase 1,Phase 2 170277-31-3
15
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
16
Menthol Approved Phase 4 2216-51-5 16666
17
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 67-73-2 6215
18
Ketorolac Approved Phase 4,Phase 2,Phase 3,Phase 1 74103-06-3, 66635-83-4 3826
19
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
21 Homatropine Approved Phase 4 87-00-3
22
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
23
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
24
Bimatoprost Approved, Investigational Phase 4,Phase 2 155206-00-1 5311027
25
Latanoprost Approved, Investigational Phase 4,Phase 2 130209-82-4 5282380 5311221
26
Timolol Approved Phase 4,Phase 2 26839-75-8 33624 5478
27
Travoprost Approved Phase 4 157283-68-6 5282226
28
Insulin Glargine Approved Phase 4 160337-95-1
29
Zinc Approved Phase 4 7440-66-6 32051 23994
30
Azathioprine Approved Phase 4 446-86-6 2265
31
Chlorambucil Approved Phase 4 305-03-3 2708
32
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
33
Daclizumab Approved, Investigational Phase 4 152923-56-3
34
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
35
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
36
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
37
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
38
Tacrolimus Approved, Investigational Phase 4,Phase 3 104987-11-3 445643 439492
39
Verteporfin Approved, Investigational Phase 4,Phase 1,Phase 2 129497-78-5
40
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
41
Empagliflozin Approved Phase 4 864070-44-0
42
Glimepiride Approved Phase 4 93479-97-1 3476
43
Difluprednate Approved Phase 4 23674-86-4 443936
44
Linagliptin Approved Phase 4 668270-12-0 10096344
45
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
46
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
47 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
48
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 143 6006
49
2,4-thiazolidinedione Investigational Phase 4 2295-31-0
50
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2,Phase 1 91714-94-2 60726

Interventional clinical trials:

(show top 50) (show all 716)

id 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 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
5 Effect of Dexamethasone Implant in Hard Exudate Complicated With Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
6 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
7 POSTERIOR SUB-TENON'S Avastin Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
8 Bevacizumab and Peripheral Retinal Changes on Wide Field Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
9 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
10 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
11 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4 Ranibizumab
12 Changes in Macular Thickness After Patterns Scan Laser Unknown status NCT00563628 Phase 4
13 Thiazolidinedione (TZD) on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
14 ALPI vs Medical Therapy Effects on Optic Nerve Structure & Function Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
15 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
16 Intraocular Anti-VEGF Compared With Intraocular Triamcinolone in Patients With Diabetic Macular Edema Completed NCT00682539 Phase 4 Bevacizumab (Avastin);Triamcinolone;Sham
17 Intravitreal Macugen for Ischaemic Diabetic Macular Oedema Completed NCT01175070 Phase 4 Intravitreal injection of pegaptanib sodium
18 Ozurdex for Diabetic Macular Edema Treated With Pars Plana vitrEctomy and Membrane RemovAl (OPERA Study) Completed NCT01613716 Phase 4 Ozurdex
19 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
20 A Pilot Study on the Effect and Safety of Iluvien® in Chronic Diabetic Macular Edema Patients Completed NCT02359526 Phase 4 IlUVIEN
21 TAHOE: Intravitreal Dexamethasone Implant (Ozurdex) for Uveitic Macular Edema Completed NCT01870440 Phase 4 Ozurdex Intravitreal Injection (0.7 mg)
22 Efficacy Study of Triamcinolone and Bevacizumab Intravitreal for Treatment of Diabetic Macular Edema Completed NCT00737971 Phase 4 Bevacizumab intravitreal;Triamcinolone;Triamcinolone + Bevacizumab
23 Topical Nepafenac as Supplement for Diabetic Macular Edema Completed NCT02443012 Phase 4 Topical Gutt Nepafenac 0.1%
24 Ranibizumab Treatment of Diabetic Macular Oedema With Bimonthly Monitoring After a Phase of Initial Treatment Completed NCT01257815 Phase 4 Ranibizumab
25 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
26 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
27 Avastin for Post-Photocoagulation Macular Edema Completed NCT00801866 Phase 4 Bevacizumab
28 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
29 Anti-inflammatory Efficacy for Prophylaxis of Cystoid Macular Edema (CME) After Phacoemulsification Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
30 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
31 Unilateral Bevacizumab for Bilateral Diabetic Macular Edema Completed NCT00496405 Phase 4 bevacizumab
32 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
33 CME With Different Fluidic Parameters Completed NCT01385852 Phase 4
34 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)
35 Prophylactic Nepafenac and Ketorolac Versus Placebo in Patients Undergoing Cataract Surgery Completed NCT01395069 Phase 4 Nepafenac 0.1%;Ketorolac 0.5%
36 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
37 Evaluation of Macugen Treatment of Macular Edema Due to Branch Retinal Vein Occlusion Completed NCT00406107 Phase 4 pegaptanib sodium (Macugen)
38 Intraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema Completed NCT01546402 Phase 4 Dexamethasone Drug delivery system (Ozurdex)
39 NEWTON: Aflibercept Injection for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
40 Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4 Standard Care;nepafenac
41 Ranibizumab "Treat and Extend" in Diabetic Macular Edma Completed NCT01297569 Phase 4 Ranibizumab
42 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
43 Comparison of Topical Ketorolac 0,4% Versus Placebo in Cataract Surgery Completed NCT01542190 Phase 4 Ketorolac Tromethamine
44 Efficacy and Safety of Lucentis® (Ranibizumab Intravitreal Injections) in Chilean Patients With Diabetic Macular Edema. Completed NCT02140411 Phase 4 Ranibizumab Intravitreal injections
45 A Safety and Efficacy Study of OZURDEX® in Macular Edema Associated With Branch Retinal Vein Occlusion Completed NCT01903720 Phase 4 dexamethasone implant
46 Single Site, Masked, Randomized, Controlled Study to Assess Efficacy of Osurdex as Adjunct to Avastin Compared With Avastin Alone in the Treatment of Patients With Macular Edema Due to Central or Branch Retinal Vein Occlusion Completed NCT01085734 Phase 4 Avastin;Osurdex;Avastin
47 Pegaptanib for Retinal Edema Secondary to Diabetic Vascular Disease(Preserve) Study Completed NCT01486238 Phase 4 Macugen® pegaptanib sodium
48 Long-Term Efficacy & Safety of Aflibercept IVT for the Treatment of DME in Subjects Who Completed the VISTA-DME Trial Completed NCT02299336 Phase 4 Aflibercept
49 A Non-Randomized, Open-Label, Single Center Phase 4 Study of the Effect and Safety of ILUVIEN® in Chronic Diabetic Macular Edema Patients Considered Insufficiently Responsive to Available Therapies (Laser, Anti-VEGF) With or Without Intravitreal Corticost Completed NCT02472366 Phase 4 ILUVIEN
50 Dexamethasone-implant for the Treatment of RVO Completed NCT01767545 Phase 4 Dexamethasone implant;Bevacizumab

Search NIH Clinical Center for Macular Dystrophy, Dominant Cystoid

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

39
Eye, Endothelial, Retina, Testes, Bone, Monocytes

Publications for Macular Dystrophy, Dominant Cystoid

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:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.8 CRB1 KCNMA1 MFRP

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....