IJT
MCID: MCL079
MIFTS: 27

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 20 17
Idiopathic Juxtafoveal Retinal Telangiectasia 20 70
Idiopathic Juxtafoveal Retinal Telangiectasis 20
Juxtafoveal Retinal Telangiectasia Type 2 20
Idiopathic Juxtafoveal Telangiectasis 20
Idiopathic Macular Telangiectasia 20
Perifoveal Telangiectasis 20
Idiopathic Mactel 20
Type 2 Mactel 20
Ijft 20
Ijt 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

UMLS 70 C2932677

Summaries for Macular Telangiectasia Type 2

GARD : 20 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 GSTP1 (Glutathione S-Transferase Pi 1). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial.

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 39)
# Related Disease Score Top Affiliating Genes
1 idiopathic macular telangiectasia type 1 11.3
2 idiopathic macular telangiectasia type 3 11.3
3 rare idiopathic macular telangiectasia 11.3
4 neuropathy, hereditary sensory and autonomic, type ia 11.2
5 neuropathy, hereditary sensory and autonomic, type ic 11.2
6 telangiectasis 11.2
7 macular holes 10.6
8 retinal vascular disease 10.6
9 retinal disease 10.5
10 scotoma 10.5
11 microvascular complications of diabetes 5 10.4
12 macular retinal edema 10.4
13 macular degeneration, age-related, 1 10.3
14 dowling-degos disease 1 10.3
15 kuhnt-junius degeneration 10.2
16 vascular disease 10.2
17 retinal degeneration 10.2
18 type 2 diabetes mellitus 10.0
19 hypertriglyceridemia, familial 10.0
20 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
21 retinoschisis 1, x-linked, juvenile 10.0
22 exudative vitreoretinopathy 10.0
23 serine deficiency 10.0
24 rapidly involuting congenital hemangioma 10.0
25 retinal vein occlusion 10.0
26 hypogonadism 10.0
27 eye disease 10.0
28 retinal telangiectasia 10.0
29 diabetic macular edema 10.0
30 vitreous detachment 10.0
31 47,xyy 10.0
32 central serous chorioretinopathy 10.0
33 juvenile retinoschisis 10.0
34 rare neurodegenerative disease 10.0
35 neurometabolic disorder due to serine deficiency 10.0
36 vitreoretinopathy 10.0
37 basal laminar drusen 10.0
38 coats disease 10.0
39 stargardt disease 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
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2 Angiogenesis Inhibitors Phase 3
3 Antineoplastic Agents, Immunological Phase 3
4
Ranibizumab Approved Phase 2 347396-82-1 459903
5 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravitreal Bevacizumab for Idiopathic Macular Telangiectasia Completed NCT00451763 Phase 3 Intravitreal Injection of Bevacizumab (1.25 mg/0.05ml)
2 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Active, not recruiting NCT03319849 Phase 3
3 A Phase III Multicenter Randomized, Sham Controlled, Study to Determine the Safety and Efficacy of Renexus® in Macular Telangiectasia Type 2 Active, not recruiting NCT03316300 Phase 3
4 Ranibizumab in Idiopathic Macular Telangiectasia, Type 2. A Prospective Interventional Non-randomized Study Comparing the Efficacy and Safety of Intravitreal Ranibizumab in Type 2 Idiopathic Macular Telangiectasia. Completed NCT00504400 Phase 2 Intravitreal injection ranibizumab
5 A Phase 2 Multicenter Randomized Clinical Trial of Ciliary Neurotrophic Factor (CNTF) for Macular Telangiectasia Type 2 (MacTel) Completed NCT01949324 Phase 2
6 Phase II, Multicenter, Open-label Safety Study of Bilateral NT-501 in Participants With Macular Telangiectasia Type 2 Not yet recruiting NCT04729972 Phase 2
7 A Phase 1 Multicenter Open Label Safety and Tolerability Clinical Trial of Ciliary Neurotrophic Factor (CNTF) in Patients With Macular Telangiectasia Type 2 (Mactel) Completed NCT01327911 Phase 1

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:

40
Eye, Retina, Endothelial

Publications for Macular Telangiectasia Type 2

Articles related to Macular Telangiectasia Type 2:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Incidence and phenotypical variation of outer retina-associated hyperreflectivity in macular telangiectasia type 2. 61
33414243 2021
2
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression. 61
33750426 2021
3
Henle fibre layer haemorrhage: clinical features and pathogenesis. 61
32376610 2021
4
GENESIS OF RETINAL-CHOROIDAL ANASTOMOSIS IN MACULAR TELANGIECTASIA TYPE 2: A Longitudinal Analysis. 61
32976212 2021
5
Functional Relevance of Hyper-Reflectivity in Macular Telangiectasia Type 2. 61
33661283 2021
6
FUNCTIONAL AND STRUCTURAL EFFECTS OF NONDAMAGING RETINAL LASER THERAPY FOR MACULAR TELANGIECTASIA TYPE 2: A Randomized Sham-Controlled Clinical Trial. 61
33370517 2021
7
Fundus autofluorescence imaging in macular telangiectasia type 2 - MacTel Study Report Number 14: Fundus autofluorescence in macular telangiectasia type 2. 61
33775659 2021
8
MULTIMODAL IMAGING IN A CASE OF CENTRAL RETINAL ARTERY OCCLUSION IN THE PRESENCE OF TYPE 2 MACULAR TELANGIECTASIA. 61
29905668 2021
9
Toxicity Screens in Human Retinal Organoids for Pharmaceutical Discovery. 61
33749682 2021
10
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease. 61
33758422 2021
11
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. 61
33654266 2021
12
HEMORRHAGIC BACILLARY LAYER DETACHMENT IN MACULAR TELANGIECTASIA TYPE 2. 61
33758136 2021
13
Plasma rich in growth factors as treatment for a full-thickness macular hole due to macular telangiectasia type 2. 61
33627242 2021
14
Prevalence and Severity of Diabetic Retinopathy in Patients with Macular Telangiectasia Type 2. 61
33444807 2021
15
Plexus-specific retinal vascular anatomy and pathologies as seen by projection-resolved optical coherence tomographic angiography. 61
32712135 2021
16
Outcome of Off-Label AREDS 2 Supplementation for the Treatment of Macular Degeneration in Non-Proliferative Idiopathic Type 2 Macular Telangiectasia. 61
33758496 2021
17
Fluorescence lifetime imaging ophthalmoscopy: autofluorescence imaging and beyond. 61
33268846 2021
18
OCT-angiography for diagnosis and response to treatment of subretinal neovascularization secondary to idiopathic macular telangiectasia type 2. 61
33495053 2021
19
An unusual presentation of macular telangiectasia type 2 with a large pigment deposit. 61
33654650 2021
20
Demographic and Multimodal Imaging Features of Macular Telangiectasia Type 2: Korean Macular Telangiectasia Type 2 Study - Report No. 2. 61
33459094 2021
21
Hyper-reflectivity on optical coherence tomography in macular telangiectasia type 2. 61
33438900 2021
22
Retinal cavitations in macular telangiectasia type 2 (MacTel): longitudinal structure-function correlations. 61
32152145 2021
23
A cross-platform approach identifies genetic regulators of human metabolism and health. 61
33414548 2021
24
Two different populations of Müller cells stabilize the structure of the fovea: an optical coherence tomography study. 61
32632619 2020
25
Macular Telangiectasia Type 2: Visual Acuity, Disease End Stage, and the MacTel Area: MacTel Project Report Number 8. 61
32586743 2020
26
Deep learning-based classification and segmentation of retinal cavitations on optical coherence tomography images of macular telangiectasia type 2. 61
33229343 2020
27
WITHDRAWN: Hyper-reflectivity on optical coherence tomography in macular telangiectasia type 2. 61
33230067 2020
28
Morphological features of macular telangiectasia type 2 in Japanese patients. 61
33146833 2020
29
Multicolor imaging in macular telangiectasia-a comparison with fundus autofluorescence. 61
32803329 2020
30
DARK ADAPTATION IN MACULAR TELANGIECTASIA TYPE 2. 61
31800456 2020
31
Optical coherence tomographic features of macular telangiectasia type 2: Korean Macular Telangiectasia Type 2 Study-Report No. 1. 61
33024250 2020
32
OCT of Outer Retinal Hyperreflectivity, Neovascularization, and Pigment in Macular Telangiectasia Type 2. 61
32956858 2020
33
Topographic Relationship between Telangiectasia and Cone Mosaic Disruption in Macular Telangiectasia Type 2. 61
33003381 2020
34
Outer Foveal Microdefects. 61
33007522 2020
35
A connectomics approach to understanding a retinal disease. 61
32699144 2020
36
Multifocal electroretinography in patients with macular telangiectasia type 2. 61
31912262 2020
37
Optical coherence tomography angiography findings of fellow eye of proliferative macular telangiectasia type 2: Long term study. 61
32613846 2020
38
Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease. 61
32699277 2020
39
Beyond Performance Metrics: Automatic Deep Learning Retinal OCT Analysis Reproduces Clinical Trial Outcome. 61
32019699 2020
40
Autologous neurosensory retinal flap for closure of refractory macular hole in a patient with macular telangiectasia. 61
32215339 2020
41
Optical coherence tomography-angiography for monitoring neovascularisations in macular telangiectasia type 2. 61
32513667 2020
42
Case report: internal limiting membrane drape sign masking by foveal detachment in macular telangiectasia type 2. 61
32493257 2020
43
MACULAR TELANGIECTASIA TYPE 2: Acircularity Index and Quantitative Assessment of Foveal Avascular Zone Using Optical Coherence Tomography Angiography. 61
30893277 2020
44
Venovenous anastomosis in macular telangiectasia type 2: an unusual presentation. 61
32606110 2020
45
Efficacy of Macular Hole Surgery in Patients with Idiopathic Macular Telangiectasia Type 2. 61
32063517 2020
46
Twenty-Year Incidence of Macular Telangiectasia Type 2 and Associated Systemic Comorbidities in Olmsted County, Minnesota. 61
32484899 2020
47
FLUORESCENCE LIFETIME IMAGING OPHTHALMOSCOPY (FLIO) PATTERNS IN CLINICALLY UNAFFECTED CHILDREN OF MACULAR TELANGIECTASIA TYPE 2 (MACTEL) PATIENTS. 61
31517727 2020
48
Perivenular Capillary Loss: An Early, Quantifiable Change in Macular Telangiectasia Type 2. 61
32818093 2020
49
Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2. 61
32818114 2020
50
FLUORESCENCE LIFETIME PATTERNS IN MACULAR TELANGIECTASIA TYPE 2. 61
30664123 2020

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 RBP3 GSTP1 CKB
2 ficolin-1-rich granule lumen GO:1904813 8.96 GSTP1 AGL
3 secretory granule lumen GO:0034774 8.62 GSTP1 AGL

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 GSTP1 CKB AGL

Sources for Macular Telangiectasia Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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