MCID: MCL079
MIFTS: 26

Macular Telangiectasia Type 2

Categories: Rare diseases

Aliases & Classifications for Macular Telangiectasia Type 2

MalaCards integrated aliases for Macular Telangiectasia Type 2:

Name: Macular Telangiectasia Type 2 53
Idiopathic Juxtafoveal Retinal Telangiectasia 53 73
Idiopathic Juxtafoveal Retinal Telangiectasis 53
Juxtafoveal Retinal Telangiectasia Type 2 53
Idiopathic Juxtafoveal Telangiectasis 53
Idiopathic Macular Telangiectasia 53
Perifoveal Telangiectasis 53
Idiopathic Mactel 53
Type 2 Mactel 53
Ijft 53
Ijt 53

Classifications:



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UMLS 73 C2932677

Summaries for Macular Telangiectasia Type 2

NIH Rare Diseases : 53 Macular telangiectasia (MacTel) type 2 is an eye disease affecting the macula that causes loss of central vision. MacTel develops when there are problems with the tiny blood vessels (capillaries) around the fovea, an area in the center of the macula where eyesight is the sharpest. In MacTel type 2, the capillaries around the fovea widen (become dilated) and leak. This causes fluid build-up and swelling, impairing reflection of light and causing progressive vision loss. As damage continues, new blood vessels may form, which can break and leak. This can lead to the development of scar tissue, further impairing central vision. MacTel type 2 affects both eyes and occurs most often in middle-aged adults. Symptoms of MacTel type 2 can be subtle at first and may include slow loss of vision, distorted vision, blurring, trouble reading, and a spot of decreased or absent vision in the visual field. The vision loss in MacTel type 2 generally progresses over ten to twenty years (sometimes more). However, there may be periods when symptoms do not worsen, interspersed with episodes of sudden worsening of vision. MacTel type 2 usually does not cause total blindness, but vision loss can significantly impact quality of life. The underlying cause of MacTel type 2 is not known (idiopathic). While it sometimes "runs in families" and may have a genetic component, no specific genes responsible for MacTel type 2 have been identified.Environmental factors may also play a role in the development of MacTel type 2. Some researchers believe that people with diabetes, hypertension, obesity, or other health problems may be at increased risk for developing MacTel type 2. Vision loss associated with MacTel type 2 may be permanent. While no treatment has been proven to prevent progression, treatment may be helpful in some cases. Treatment options may include injection of anti-VEGF medications to limit the growth of new blood vessels, and the use of low vision aids.

MalaCards based summary : Macular Telangiectasia Type 2, also known as idiopathic juxtafoveal retinal telangiectasia, is related to idiopathic macular telangiectasia type 1 and idiopathic macular telangiectasia type 3. An important gene associated with Macular Telangiectasia Type 2 is AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye.

Related Diseases for Macular Telangiectasia Type 2

Diseases related to Macular Telangiectasia Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 idiopathic macular telangiectasia type 1 12.3
2 idiopathic macular telangiectasia type 3 12.1
3 retinitis 10.2
4 aging 9.9
5 macular degeneration, age-related, 1 9.9
6 telangiectasis 9.9
7 scotoma 9.9
8 central serous chorioretinopathy 9.9

Graphical network of the top 20 diseases related to Macular Telangiectasia Type 2:



Diseases related to Macular Telangiectasia Type 2

Symptoms & Phenotypes for Macular Telangiectasia Type 2

Drugs & Therapeutics for Macular Telangiectasia Type 2

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2 Angiogenesis Inhibitors Phase 3
3 Angiogenesis Modulating Agents Phase 3
4 Vaccines Phase 1
5 Antioxidants
6 Protective Agents
7 Carotenoids

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Avastin in Juxtafoveal Telangiectasias Unknown status NCT00406380 Phase 3 Bevacizumab
2 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
3 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
4 A Phase 2 Multicenter Randomized Clinical Trial of CNTF for MacTel Completed NCT01949324 Phase 2
5 Ciliary Neurotrophic Factor (CNTF) Safety Trial in Patients With Macular Telangiectasia (Mactel) Completed NCT01327911 Phase 1
6 The Role of Macular Pigment Carotenoids in the Pathogenesis and Treatment of Macular Telangiectasia Type 2 (MacTel) Completed NCT01354093 zeaxanthin;zeaxanthin
7 MacTel Laser Study Recruiting NCT03321916 Not Applicable

Search NIH Clinical Center for Macular Telangiectasia Type 2

Genetic Tests for Macular Telangiectasia Type 2

Anatomical Context for Macular Telangiectasia Type 2

MalaCards organs/tissues related to Macular Telangiectasia Type 2:

41
Eye

Publications for Macular Telangiectasia Type 2

Articles related to Macular Telangiectasia Type 2:

(show all 32)
# Title Authors Year
1
EFFECT OF DARK ADAPTATION AND BLEACHING ON BLUE LIGHT REFLECTANCE IMAGING IN MACULAR TELANGIECTASIA TYPE 2. ( 28654457 )
2018
2
Treatment of intravitreal bevacizumab combined with focal laser photocoagulation in the case of macular telangiectasia type 2 with retinal arterial macroaneurysm. ( 29804166 )
2018
3
Idiopathic macular telangiectasia type 2: Prevalence and a morphometric and phenotypic study. ( 29150217 )
2018
4
Tamoxifen Use in a Patient with Idiopathic Macular Telangiectasia Type 2. ( 29643783 )
2018
5
FUNDUS-WIDE SUBRETINAL AND PIGMENT EPITHELIAL ABNORMALITIES IN MACULAR TELANGIECTASIA TYPE 2. ( 29045321 )
2018
6
ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE-FUNCTION CORRELATION. ( 28654458 )
2018
7
OCT Angiography Helps Distinguish Between Proliferative Macular Telangiectasia Type 2 and Neovascular Age-Related Macular Degeneration. ( 29772040 )
2018
8
LONGITUDINAL CORRELATION OF ELLIPSOID ZONE LOSS AND FUNCTIONAL LOSS IN MACULAR TELANGIECTASIA TYPE 2. ( 28541959 )
2018
9
MACULAR TELANGIECTASIA TYPE 2: Quantitative Analysis of a Novel Phenotype and Implications for the Pathobiology of the Disease. ( 28834952 )
2018
10
CONCURRENT IDIOPATHIC MACULAR TELANGIECTASIA TYPE 2 AND CENTRAL SEROUS CHORIORETINOPATHY. ( 29016451 )
2018
11
Electrophysiological findings show generalised post-photoreceptoral deficiency in macular telangiectasia type 2. ( 28592417 )
2018
12
CORRELATION OF CLINICAL AND STRUCTURAL PROGRESSION WITH VISUAL ACUITY LOSS IN MACULAR TELANGIECTASIA TYPE 2: MacTel Project Report No. 6-The MacTel Research Group. ( 28505012 )
2018
13
Global Connections to Study Idiopathic Macular Telangiectasia Type 2. ( 29190235 )
2018
14
Contrast sensitivity and visual acuity under low light conditions in macular telangiectasia type 2. ( 29858186 )
2018
15
SEX STEROIDS AND MACULAR TELANGIECTASIA TYPE 2. ( 28837534 )
2018
16
OCT Angiography and Ellipsoid Zone Mapping of Macular Telangiectasia Type 2 From the AVATAR Study. ( 28727884 )
2017
17
Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2 with Associated Subretinal Neovascular Membrane. ( 29250452 )
2017
18
SCOTOMA CHARACTERISTICS IN MACULAR TELANGIECTASIA TYPE 2: MacTel Project Report No. 7-The MacTel Research Group. ( 28609329 )
2017
19
Genome-wide analyses identify common variants associated with macular telangiectasia type 2. ( 28250457 )
2017
20
Correlation Between Macular Integrity Assessment and Optical Coherence Tomography Imaging of Ellipsoid Zone in Macular Telangiectasia Type 2. ( 28973315 )
2017
21
Progression of Vision Loss in Macular Telangiectasia Type 2. ( 26070062 )
2015
22
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography - can we choose? ( 25308781 )
2014
23
Fluorescein angiography versus spectral domain optical coherence tomography in idiopathic juxtafoveal retinal telangiectasia. ( 25196460 )
2014
24
The relationship between inner retinal cavitation, photoreceptor disruption, and the integrity of the outer limiting membrane in macular telangiectasia type 2. ( 23974952 )
2013
25
Idiopathic macular telangiectasia type 2 (idiopathic juxtafoveolar retinal telangiectasis type 2A, Mac Tel 2). ( 24160729 )
2013
26
Medical characteristics of patients with macular telangiectasia type 2 (MacTel Type 2) MacTel project report no. 3. ( 23510315 )
2013
27
Anti-retinal antibodies in patients with macular telangiectasia type 2. ( 23882694 )
2013
28
Diagnosis of subretinal neovascularization associated with idiopathic juxtafoveal retinal telangiectasia - fluorescein angiography versus spectral-domain optical coherence tomography. ( 24150706 )
2013
29
Analysis of glutathione S-transferase Pi isoform (GSTP1) single-nucleotide polymorphisms and macular telangiectasia type 2. ( 20499266 )
2010
30
Intravitreal ranibizumab as primary treatment for neovascular membrane associated with idiopathic juxtafoveal retinal telangiectasia. ( 19727795 )
2009
31
Idiopathic juxtafoveal retinal telangiectasia. ( 19811762 )
2008
32
Correlation of functional impairment and morphological alterations in patients with group 2A idiopathic juxtafoveal retinal telangiectasia. ( 18332311 )
2008

Variations for Macular Telangiectasia Type 2

Expression for Macular Telangiectasia Type 2

Search GEO for disease gene expression data for Macular Telangiectasia Type 2.

Pathways for Macular Telangiectasia Type 2

GO Terms for Macular Telangiectasia Type 2

Cellular components related to Macular Telangiectasia Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.33 CKB GSTP1 RBP3
2 ficolin-1-rich granule lumen GO:1904813 8.96 AGL GSTP1
3 secretory granule lumen GO:0034774 8.62 AGL GSTP1

Molecular functions related to Macular Telangiectasia Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.8 AGL CKB GSTP1

Sources for Macular Telangiectasia Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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