MCDR2
MCID: MCL035
MIFTS: 25

Macular Dystrophy, Retinal, 2 (MCDR2) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 2

Aliases & Descriptions for Macular Dystrophy, Retinal, 2:

Name: Macular Dystrophy, Retinal, 2 54 24 13
Mcdr2 56 66
Retinal Macular Dystrophy Type 2 56
Retinal Macular Dystrophy 2 66

Characteristics:

Orphanet epidemiological data:

56
retinal macular dystrophy type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

HPO:

32
macular dystrophy, retinal, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 608051
Orphanet 56 ORPHA319640
ICD10 via Orphanet 34 H35.5
MedGen 40 C0339512
MeSH 42 D008268

Summaries for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot : 66 Retinal macular dystrophy 2: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.

MalaCards based summary : Macular Dystrophy, Retinal, 2, also known as mcdr2, is related to macular dystrophy, retinal, 1, north carolina type, and has symptoms including reduced visual acuity, central scotoma and macular dystrophy. An important gene associated with Macular Dystrophy, Retinal, 2 is PROM1 (Prominin 1). The drugs Ranibizumab and Verteporfin have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM: 608051

Related Diseases for Macular Dystrophy, Retinal, 2

Diseases in the Macular Dystrophy, Retinal, 2 family:

Macular Dystrophy, Retinal, 3

Diseases related to Macular Dystrophy, Retinal, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 macular dystrophy, retinal, 1, north carolina type 10.9

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 2

Symptoms by clinical synopsis from OMIM:

608051

Clinical features from OMIM:

608051

Human phenotypes related to Macular Dystrophy, Retinal, 2:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 central scotoma 32 HP:0000603
3 macular dystrophy 32 HP:0007754
4 dyschromatopsia 32 HP:0007641
5 granular macular appearance 32 HP:0007793
6 retinal pigment epithelial atrophy 32 HP:0007722
7 perifoveal ring of hyperautofluorescence 32 HP:0030629

Drugs & Therapeutics for Macular Dystrophy, Retinal, 2

Drugs for Macular Dystrophy, Retinal, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 345)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 347396-82-1 459903
2
Verteporfin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129497-78-5
3
Ephedrine Approved Phase 4,Phase 2,Phase 3 299-42-3 9294
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
5
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7
Norgestimate Approved Phase 4 35189-28-7 6540478
8
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3 90-82-4 7028
9
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
10
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
12
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-02-2 5743
13
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
14
Lidocaine Approved, Vet_approved Phase 4,Phase 2 137-58-6 3676
15
Diclofenac Approved, Vet_approved Phase 4,Phase 1 15307-86-5 3033
16
Nepafenac Approved Phase 4,Phase 3,Phase 2 78281-72-8 151075
17
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 67-73-2 6215
18
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
19
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
20
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
21
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
23
Menthol Approved Phase 4 2216-51-5 16666
24
Povidone-iodine Approved Phase 4,Phase 3 25655-41-8
25
Betamethasone Approved, Vet_approved Phase 4,Phase 2,Phase 3 378-44-9 9782
26
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
27
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
28
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
29
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
30
Empagliflozin Approved Phase 4 864070-44-0
31
Glimepiride Approved Phase 4 93479-97-1 3476
32
Difluprednate Approved Phase 4 23674-86-4 443936
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 11103-57-4, 68-26-8 445354
34
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
35
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1 59-02-9 14985
36 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
37
Bromfenac Approved July 1997 Phase 4,Phase 3,Phase 2 91714-94-2 60726
38 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
39 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
40 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
43 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
44 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
46 Contraceptive Agents Phase 4
47 Contraceptives, Oral Phase 4
48 Contraceptives, Oral, Combined Phase 4
49 Estradiol 17 beta-cypionate Phase 4
50 Estradiol 3-benzoate Phase 4

Interventional clinical trials:

(show top 50) (show all 834)
id Name Status NCT ID Phase
1 On-label tReatment With Intravitreal Aflibercept injectiOn for Patients With Persistent Pigment epitheliaL Detachments in Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT01670162 Phase 4
2 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4
3 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4
4 The Endurance 1 Trial Unknown status NCT02297204 Phase 4
5 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4
6 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4
7 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4
8 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4
9 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
10 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4
11 Evaluation of Dosing Interval of Higher Doses of Ranibizumab Completed NCT00533520 Phase 4
12 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4
13 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
14 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
15 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4
16 Safety and Tolerability of Ranibizumab in Mono/Bilateral w-AMD Patients in Eyes With BCVA<2/10 and/or 2nd Affected Eye Completed NCT01986907 Phase 4
17 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4
18 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4
19 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
20 Study to Investigate the Safety and Efficacy of Ranibizumab in Patients With Choroidal Neovascularisation Due to Causes Other Than Age Related Macular Degeneration Completed NCT01628354 Phase 4
21 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4
22 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4
23 UNcovering the Difference Between Ranibizumab and Aflibercept, Focusing on Systemic Anti-vascular Endothelial Growth Factor (VEGF) Effects in Patients With neovascuLar Age-related Macular Degeneration (AMD) Completed NCT01988662 Phase 4
24 Comparison of Safety, Effectiveness and Quality of Life Outcomes Between Labeled Versus "Treat and Extend" Regimen in Turkish Patients With Choroidal Neovascularisation Due to Age-related Macular Degeneration (AMD) Completed NCT01148511 Phase 4
25 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
26 NEWTON: Aflibercept Injection for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4
27 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
28 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
29 Study to Assess Best Corrected Visual Acuity (BCVA) in Patients With Neovascular Age-Related Macular Degeneration (AMD) Who Are Administered VEGF Trap-Eye (Intravitreal Aflibercept Injection) Completed NCT01722045 Phase 4
30 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4
31 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4
32 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4
33 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4
34 Dexamethasone-implant for the Treatment of RVO Completed NCT01767545 Phase 4
35 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
36 Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVO Completed NCT01580020 Phase 4
37 Visual Outcome in Patients With Symptomatic Macular PCV Treated With Either Ranibizumab as Monotherapy or Combined With Verteporfin Photodynamic Therapy. Completed NCT01846273 Phase 4
38 Long-Term Efficacy & Safety of Aflibercept IVT for the Treatment of DME in Subjects Who Completed the VISTA-DME Trial Completed NCT02299336 Phase 4
39 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4
40 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
41 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
42 Morphological and Functional Retinal Changes Following Retinal Photocoagulation Completed NCT00682240 Phase 4
43 Avastin for Post-Photocoagulation Macular Edema Completed NCT00801866 Phase 4
44 Intraocular Anti-VEGF Compared With Intraocular Triamcinolone in Patients With Diabetic Macular Edema Completed NCT00682539 Phase 4
45 Efficacy and Safety of Verteporfin Added to Ranibizumab in the Treatment of Symptomatic Macular Polypoidal Choroidal Vasculopathy Completed NCT00674323 Phase 4
46 Intraoperative Dexamethasone Implant Improves Outcome of Cataract Surgery With Diabetic Macular Edema Completed NCT01546402 Phase 4
47 Treatment of Acute Pseudophakic Cystoid Macular Edema: Bromfenac 0.09% Versus Diclofenac Sodium 0.1% Versus Ketorolac Tromethamine 0.5% Completed NCT00595543 Phase 4
48 Study of H.P. ACTHAR Subcutaneous Gelatin (Gel)(Highly Purified Gel Injection) in Uveitis Patients Completed NCT02764697 Phase 4
49 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
50 Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery Completed NCT00494494 Phase 4

Search NIH Clinical Center for Macular Dystrophy, Retinal, 2

Genetic Tests for Macular Dystrophy, Retinal, 2

Genetic tests related to Macular Dystrophy, Retinal, 2:

id Genetic test Affiliating Genes
1 Macular Dystrophy, Retinal, 2 24 PROM1

Anatomical Context for Macular Dystrophy, Retinal, 2

MalaCards organs/tissues related to Macular Dystrophy, Retinal, 2:

39
Eye

Publications for Macular Dystrophy, Retinal, 2

Variations for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Retinal, 2:

66
id Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Macular Dystrophy, Retinal, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922

Expression for Macular Dystrophy, Retinal, 2

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 2.

Pathways for Macular Dystrophy, Retinal, 2

GO Terms for Macular Dystrophy, Retinal, 2

Sources for Macular Dystrophy, Retinal, 2

3 CDC
7 CNVD
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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