IJT
MCID: MCL079
MIFTS: 29

Macular Telangiectasia Type 2 (IJT)

Categories: Eye diseases, 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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

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 CKB (Creatine Kinase B). The drugs Vaccines and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina.

Related Diseases for Macular Telangiectasia Type 2

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 idiopathic macular telangiectasia type 1 12.4
2 idiopathic macular telangiectasia type 3 12.3
3 telangiectasis 10.9
4 retinal telangiectasia 10.6
5 macular holes 10.3
6 retinal vascular disease 10.1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
8 macular degeneration, age-related, 1 10.0
9 kuhnt-junius degeneration 10.0
10 macular retinal edema 10.0
11 scotoma 10.0
12 central serous chorioretinopathy 10.0
13 macular dystrophy, dominant cystoid 10.0
14 degos 'en cocarde' erythrokeratoderma 10.0

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Protective Agents
3 Carotenoids
4 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03319849 Phase 3
2 A Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Recruiting NCT03316300 Phase 3
3 A Phase 2 Multicenter Randomized Clinical Trial of CNTF for MacTel Completed NCT01949324 Phase 2
4 Ciliary Neurotrophic Factor (CNTF) Safety Trial in Patients With Macular Telangiectasia (Mactel) Completed NCT01327911 Phase 1
5 The Role of Macular Pigment Carotenoids in the Pathogenesis and Treatment of Macular Telangiectasia Type 2 (MacTel) Completed NCT01354093 zeaxanthin;zeaxanthin
6 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, Endothelial, Retina

Publications for Macular Telangiectasia Type 2

Articles related to Macular Telangiectasia Type 2:

(show top 50) (show all 118)
# 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
MACULAR TELANGIECTASIA TYPE 2 IN AN OTHERWISE HEALTHY TEENAGE BOY WITH CONSANGUINEOUS PARENTS. ( 27828905 )
2018
16
Outer Retinal Tubulation in Subretinal Neovascularization Associated with Macular Telangiectasia Type 2. ( 27960639 )
2018
17
SEX STEROIDS AND MACULAR TELANGIECTASIA TYPE 2. ( 28837534 )
2018
18
Treatment of intravitreal bevacizumab combined with focal laser photocoagulation in the case of macular telangiectasia type 2 with retinal arterial macroaneurysm. ( 30027424 )
2018
19
No association between sleep apnoea and macular telangiectasia type 2 and its markers of severity and progression: a case-control study and retrospective cohort study. ( 30047178 )
2018
20
Macular Pigment Distribution as Prognostic Marker for Disease Progression in Macular Telangiectasia Type 2. ( 30053477 )
2018
21
Radial Hemorrhage in Henle Layer in Macular Telangiectasia Type 2. ( 30054619 )
2018
22
STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS IN A PATIENT WITH MACULAR TELANGIECTASIA TYPE 2. ( 30063580 )
2018
23
RETINAL-CHOROIDAL ANASTOMOSIS IN MACULAR TELANGIECTASIA TYPE 2. ( 30095711 )
2018
24
SPONTANEOUS CLOSURE OF MACULAR HOLE IN A PATIENT WITH MACULAR TELANGIECTASIA TYPE 2. ( 30096103 )
2018
25
Genetic Penetrance of Macular Telangiectasia Type 2. ( 30098143 )
2018
26
Fluorescence Lifetime Imaging Ophthalmoscopy: A Novel Way to Assess Macular Telangiectasia Type 2. ( 30116796 )
2018
27
Stereoscopic Vision in Macular Telangiectasia Type 2. ( 30196286 )
2018
28
Deep longitudinal transfer learning-based automatic segmentation of photoreceptor ellipsoid zone defects on optical coherence tomography images of macular telangiectasia type 2. ( 30258683 )
2018
29
Effect of Ciliary Neurotrophic Factor on Retinal Neurodegeneration in Patients with Macular Telangiectasia Type 2: A Randomized Clinical Trial. ( 30292541 )
2018
30
Idiopathic macular telangiectasia type 2: A six-year study with multimodal imaging of a presumed unilateral case. ( 30555973 )
2018
31
OCT Angiography and Ellipsoid Zone Mapping of Macular Telangiectasia Type 2 From the AVATAR Study. ( 28727884 )
2017
32
Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2 with Associated Subretinal Neovascular Membrane. ( 29250452 )
2017
33
SCOTOMA CHARACTERISTICS IN MACULAR TELANGIECTASIA TYPE 2: MacTel Project Report No. 7-The MacTel Research Group. ( 28609329 )
2017
34
Genome-wide analyses identify common variants associated with macular telangiectasia type 2. ( 28250457 )
2017
35
Correlation Between Macular Integrity Assessment and Optical Coherence Tomography Imaging of Ellipsoid Zone in Macular Telangiectasia Type 2. ( 28973315 )
2017
36
VOLUME-RENDERED ANGIOGRAPHIC AND STRUCTURAL OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF MACULAR TELANGIECTASIA TYPE 2. ( 27749698 )
2017
37
Natural history and effect of therapeutic interventions on subretinal fluid causing foveal detachment in macular telangiectasia type 2. ( 27793821 )
2017
38
VISUAL FUNCTION CORRELATES OF FOVEAL SLOPE CHANGES ON OPTICAL COHERENCE TOMOGRAPHY IN MACULAR TELANGIECTASIA TYPE 2. ( 27930459 )
2017
39
MACULAR PIGMENT DISTRIBUTION RESPONSES TO HIGH-DOSE ZEAXANTHIN SUPPLEMENTATION IN PATIENTS WITH MACULAR TELANGIECTASIA TYPE 2. ( 28079755 )
2017
40
IDENTIFICATION OF INCREASED BLUE LIGHT REFLECTIVITY IN MACULAR TELANGIECTASIA TYPE 2 USING SCANNING LASER OPHTHALMOSCOPY VERSUS RED-FREE FUNDUS PHOTOGRAPHY. ( 28195982 )
2017
41
RESOLUTION OF FOVEAL CYST AFTER THE RELEASE OF VITREOMACULAR ATTACHMENT IN EYE WITH MACULAR TELANGIECTASIA TYPE 2. ( 28248745 )
2017
42
CONE DENSITY LOSS ON ADAPTIVE OPTICS IN EARLY MACULAR TELANGIECTASIA TYPE 2. ( 26418443 )
2016
43
Treatment for Macular Telangiectasia Type 2. ( 26501828 )
2016
44
VERY EARLY DISEASE MANIFESTATIONS OF MACULAR TELANGIECTASIA TYPE 2. ( 26618805 )
2016
45
Characteristics and quantification of vascular changes in macular telangiectasia type 2 on optical coherence tomography angiography. ( 26823394 )
2016
46
Re: Spaide et al.: Volume-rendering optical coherence tomography angiography of macular telangiectasia type 2 (Ophthalmology 2015;122:2261-9). ( 26902576 )
2016
47
Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2. ( 27022942 )
2016
48
Anti-Vascular Endothelial Growth Factor Treatment for Proliferative Macular Telangiectasia Type 2. ( 27162458 )
2016
49
LONG-TERM OUTCOMES OF INTRAVITREAL BEVACIZUMAB THERAPY FOR SUBRETINAL NEOVASCULARIZATION SECONDARY TO IDIOPATHIC MACULAR TELANGIECTASIA TYPE 2. ( 27258671 )
2016
50
Treatment of Macular Telangiectasia Type 2 With Carotenoid Supplements Containing Meso-Zeaxanthin: A Pilot Study. ( 27327282 )
2016

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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