MCID: MCL035
MIFTS: 27

Macular Dystrophy, Retinal, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 2

MalaCards integrated aliases for Macular Dystrophy, Retinal, 2:

Name: Macular Dystrophy, Retinal, 2 54 24 13
Mcdr2 56 71
Retinal Macular Dystrophy Type 2 56
Retinal Macular Dystrophy 2 71

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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 608051
Orphanet 56 ORPHA319640
UMLS via Orphanet 70 C0339512
ICD10 via Orphanet 34 H35.5
MedGen 40 C0339512
MeSH 42 D008268
SNOMED-CT via HPO 65 263681008 38950008 13164000

Summaries for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot : 71 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, is also known as mcdr2, 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, endothelial and testes.

Description from OMIM: 608051

Related Diseases for Macular Dystrophy, Retinal, 2

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
greatly reduced light-adapted scotopic and photopic erg by 7th decade
unrecordable perg by 7th decade
electro-oculogram (eog), flash electroretinogram (erg) and pattern erg (perg) initially normal
central scotomata
gradual progressive loss of central visual acuity
more

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 307)
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 2 299-42-3 9294
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
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 90-82-4 7028
9
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
10
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
11
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
12
Temazepam Approved Phase 4,Phase 3 846-50-4 5391
13
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
14
Spironolactone Approved Phase 4,Phase 2,Phase 3 1952-01-7, 52-01-7 5833
15
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 124-94-7 31307
16
Copper Approved Phase 4 7440-50-8 27099
17
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
18
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
19
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
21
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
22 Tocopherol Approved, Nutraceutical Phase 4,Phase 3
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 11103-57-4, 68-26-8 445354
24
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
25
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-02-9 14985
26 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
27
Lactitol Investigational Phase 4,Phase 2 585-86-4 3871
28
Bromfenac Approved July 1997 Phase 4,Phase 2 91714-94-2 60726
29 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Photosensitizing Agents Phase 4,Phase 3,Phase 2,Phase 1
33 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Antibiotics, Antitubercular Phase 4,Phase 1,Phase 2
35 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Contraceptive Agents Phase 4
38 Contraceptives, Oral Phase 4
39 Contraceptives, Oral, Combined Phase 4
40 Estradiol 17 beta-cypionate Phase 4
41 Estradiol 3-benzoate Phase 4
42 Estradiol valerate Phase 4 979-32-8
43 Fluoroquinolones Phase 4
44 Nasal Decongestants Phase 4,Phase 2
45 Norgestimate, ethinyl estradiol drug combination Phase 4
46 Nucleic Acid Synthesis Inhibitors Phase 4
47 Ophthalmic Solutions Phase 4,Phase 2,Phase 3,Phase 1
48 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
50 Polyestradiol phosphate Phase 4

Interventional clinical trials:

(show top 50) (show all 617)

id Name Status NCT ID Phase Drugs
1 Short-term Clinical Effects of Intravitreal Aflibercept Injection 2.0mg as a Predictor of Long-term Results Unknown status NCT01657669 Phase 4 Intravitreal Aflibercept injection
2 Treat and Extend Therapy Study Using Intravitreal Aflibercept for Patients Exited From Protocol VGFT-OD 0910 Unknown status NCT01961414 Phase 4 Aflibercept
3 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 Aflibercept
4 Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration Unknown status NCT00813891 Phase 4 Ranibizumab;Ranibizumab;Ranibizumab
5 Aflibercept (EYLEA)as Secondary or Third Line Treatment for Neovascular Age-related Macular Degeneration. Unknown status NCT01918878 Phase 4 Aflibercept (EYLEA)
6 Dosage Study for Vigamox Eye Drops Prior to Intravitreal Injections Unknown status NCT00690313 Phase 4 Vigamox
7 The Endurance 1 Trial Unknown status NCT02297204 Phase 4 aflibercept 2.0 mg
8 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
9 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
10 Study for Recalcitrant Age Related Macular Degeneration Completed NCT01543568 Phase 4 aflibercept 2.0 mg
11 Assessment of Early Changes in SD-OCT After Initiation of a Treatment by Intravitreal Aflibercept (EYLEA®)START Completed NCT02246829 Phase 4
12 Intravitreal Aflibercept in Neovascular AMD With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
13 Efficacy of Ranibizumab Prn Treatment Compared to Aflibercept Bimonthly Intravitreal Injections on Retinal Thickness Stability in Patients With Wet AMD Completed NCT01958918 Phase 4 Ranibizumab;Aflibercept
14 Evaluation of Dosing Interval of Higher Doses of Ranibizumab Completed NCT00533520 Phase 4 ranibizumab
15 Study EvAluating Genotypes While Using Lucentis 2 Completed NCT01464723 Phase 4 Ranibizumab
16 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
17 Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration. Completed NCT01831947 Phase 4
18 Study of PRN and Every 2months Intravitreal Aflibercept for Age Related Macular Degeneration Completed NCT01824225 Phase 4 Aflibercept
19 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 ranibizumab
20 Combination Lucentis and Ocular Photodynamic Therapy With Visudyne, With Evaluation-based Retreatment Completed NCT00680498 Phase 4 Ranibizumab;Ranibizumab plus Photodynamic therapy
21 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
22 Effect of Antioxidants on Ocular Blood Flow, Endothelial Function, and Cytokine Levels in LPS Induced Inflammatory Model in Humans. Completed NCT00431691 Phase 4 vitamin and mineral supplement;Escherichia coli Endotoxin (LPS);100% O2;nitroglycerin
23 PDT Study for Exudative AMD With PCV Completed NCT00331435 Phase 4
24 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 Ranibizumab
25 VEGF-antagonism and Endothelial Function in Age-related Macular Degeneration (AMD) Completed NCT00727753 Phase 4 Ranibizumab;Bevacizumab
26 LUCAS (Lucentis Compared to Avastin Study) Completed NCT01127360 Phase 4 Bevacizumab;Ranibizumab
27 Prospective Randomized Controlled Treatment Trial for Chronic Central Serous Chorioretinopathy Completed NCT01797861 Phase 4
28 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
29 Comparison of Treatment Regimens Using Ranibizumab: Intensive (Resolution of Intra- and Sub-retinal Fluid) vs Relaxed (Resolution of Primarily Intra-retinal Fluid) Treatment. Completed NCT01972789 Phase 4 Ranibizumab
30 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 Ranibizumab 0.5 mg
31 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
32 NEWTON: Aflibercept Injection for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
33 Dry Age-Related Macular Degeneration (AMD) Treatment With Rheopheresis Trial Completed NCT00751361 Phase 4
34 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4 dexamethasone;bevacizumab;triamcincolone
35 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 Intravitreal Aflibercept Injection (IAI)
36 Safety and Tolerability of Ranibizumab in Patients With Subfoveal Choroidal Neovascularization Secondary to Age-related Macular Degeneration Completed NCT00504959 Phase 4 ranibizumab
37 Efficacy of Ranibizumab Therapy With Aflibercept in Patients With Diabetic Macular Edema Completed NCT02646670 Phase 4 Ranibizumab;Aflibercept;Ranibizumab and Aflibercept;Aflibercept and ranibizumab
38 Reduced Fluence Photodynamic Therapy (PDT) With Visudyne in Combination With Lucentis for Age-Related Macular Degeneration Completed NCT00473642 Phase 4 Ranibizumab;Verteporfin;Verteporfin
39 Head to Head Study of Anti-VEGF Treatment. Completed NCT02577107 Phase 4 ranibizumab;Conbercept
40 Dexamethasone-implant for the Treatment of RVO Completed NCT01767545 Phase 4 Dexamethasone implant;Bevacizumab
41 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
42 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 Dexamethasone
43 Visual Outcome in Patients With Symptomatic Macular PCV Treated With Either Ranibizumab as Monotherapy or Combined With Verteporfin Photodynamic Therapy. Completed NCT01846273 Phase 4 Ranibizumab;Verteporfin PDT;Sham PDT
44 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
45 Effect of Intravitreal VEGF-Trap Eye on Polypoidal Choroidal Vasculopathy Completed NCT01950741 Phase 4 aflibercept
46 PreView PHP Preferential Hyperacuity Perimeter for the Detection of Choroidal Neovascularization Completed NCT00358345 Phase 4
47 Morphological and Functional Retinal Changes Following Retinal Photocoagulation Completed NCT00682240 Phase 4
48 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
49 Intravitreal Aflibercept in Wet Age Related Macular Degeneration Patients With an Incomplete Response to Routine Ranibizumab Injections Recruiting NCT02002377 Phase 4 Aflibercept
50 Managing Neovascular (Known as "Wet") Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye Recruiting NCT02581891 Phase 4 Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321);Eylea (Intravitreal Aflibercept, VEGF Trap-Eye, BAY86-5321)

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, Endothelial, Testes, Bone, Retina

Publications for Macular Dystrophy, Retinal, 2

Variations for Macular Dystrophy, Retinal, 2

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

71
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/Likely 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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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51 NINDS
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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
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