Introdução
O que você precisa saber de cara
A telangiectasia macular é uma condição da retina, o tecido sensível à luz na parte posterior do olho, que causa a deterioração gradual da visão central, interferindo em tarefas como ler e dirigir.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Telangiectasia idiopática macular, tipo 3
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Publicações mais relevantes
The Role of Nailfold Videocapillaroscopy (NVC) in Evaluating Ocular Diseases: Insights into Retinal, Choroidal, and Optic Nerve Pathologies.
Background/Objectives: Nailfold videocapillaroscopy (NVC) is a non-invasive method for visualizing systemic micro-circulation, primarily used in rheumatology. Many ocular diseases (e.g., glaucoma, diabetic retinopathy (DR), and central serous chorioretinopathy (CSC)) involve microvascular disturbances. Since microangiopathies are often systemic, NVC findings may reflect ocular pathology. This narrative review aimed to summarize current evidence linking NVC alterations with retinal, choroidal, and optic nerve diseases. Methods: A literature search of PubMed, Scopus, and Web of Science (2000-2025) was conducted using the keywords "nailfold videocapillaroscopy," "ocular diseases," "retinopathy," and "glaucoma". Results: Most available studies were cross-sectional and exploratory. In glaucoma, NVC abnormalities suggesting systemic hypoperfusion (reduced capillary density, avascular areas, tortuosity, and microhemorrhages) were frequently reported. CSC was associated with capillary dilation patterns (megacapillaries and aneurysmal dilations), supporting a congestive rather than ischemic microvascular profile. In DR, NVC abnormalities (reduced density and neoangiogenesis) correlated with DR severity. Associations were also found for AMD and idiopathic macular telangiectasia type 2 (MacTel2, also known as IMT). However, only a limited number of prospective studies assessed diagnostic performance, and data on sensitivity, specificity, or ROC-based validation remain scarce. Conclusions: Current evidence suggests that NVC reflects systemic microvascular alterations associated with several ocular diseases. While NVC shows potential as an adjunctive tool for risk assessment and phenotyping, its diagnostic validity has not yet been established. Limitations include the predominantly observational nature of the studies, heterogeneity of methodologies, and the lack of standardized diagnostic thresholds. Prospective trials integrating NVC with ocular imaging modalities, such as OCT angiography, are needed to determine its clinical utility.
Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2.
Deep learning image analysis often depends on large, labeled datasets, which are difficult to obtain for rare diseases. To develop a self-supervised approach for automated classification of macular telangiectasia type 2 (MacTel) on optical coherence tomography (OCT) with limited labeled data. This was a retrospective comparative study. OCT images from May 2014 to May 2019 were collected by the Lowy Medical Research Institute, La Jolla, California, and the University of Washington, Seattle, from January 2016 to October 2022. Clinical diagnoses of patients with and without MacTel were confirmed by retina specialists. Data were analyzed from January to September 2023. Two convolutional neural networks were pretrained using the Bootstrap Your Own Latent algorithm on unlabeled training data and fine-tuned with labeled training data to predict MacTel (self-supervised method). ResNet18 and ResNet50 models were also trained using all labeled data (supervised method). The ground truth yes vs no MacTel diagnosis is determined by retinal specialists based on spectral-domain OCT. The models' predictions were compared against human graders using accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), area under precision recall curve (AUPRC), and area under the receiver operating characteristic curve (AUROC). Uniform manifold approximation and projection was performed for dimension reduction and GradCAM visualizations for supervised and self-supervised methods. A total of 2636 OCT scans from 780 patients with MacTel and 131 patients without MacTel were included from the MacTel Project (mean [SD] age, 60.8 [11.7] years; 63.8% female), and another 2564 from 1769 patients without MacTel from the University of Washington (mean [SD] age, 61.2 [18.1] years; 53.4% female). The self-supervised approach fine-tuned on 100% of the labeled training data with ResNet50 as the feature extractor performed the best, achieving an AUPRC of 0.971 (95% CI, 0.969-0.972), an AUROC of 0.970 (95% CI, 0.970-0.973), accuracy of 0.898%, sensitivity of 0.898, specificity of 0.949, PPV of 0.935, and NPV of 0.919. With only 419 OCT volumes (185 MacTel patients in 10% of labeled training dataset), the ResNet18 self-supervised model achieved comparable performance, with an AUPRC of 0.958 (95% CI, 0.957-0.960), an AUROC of 0.966 (95% CI, 0.964-0.967), and accuracy, sensitivity, specificity, PPV, and NPV of 90.2%, 0.884, 0.916, 0.896, and 0.906, respectively. The self-supervised models showed better agreement with the more experienced human expert graders. The findings suggest that self-supervised learning may improve the accuracy of automated MacTel vs non-MacTel binary classification on OCT with limited labeled training data, and these approaches may be applicable to other rare diseases, although further research is warranted.
Intraretinal hyperreflective line: potential biomarker in various retinal disorders.
The intraretinal hyperreflective line (IHL) is a novel posterior segment finding demonstrable using careful optical coherence tomography (OCT) examination. It likely indicates a reaction against photoreceptor, Muller cell, and/or retinal pigment epithelial damage. This study analyzed the spectral-domain OCT characteristics of IHLs to disclose their presence in various retinal conditions. A retrospective review of the charted and imaging records of participants with IHL was conducted at Dokuz Eylul University Department of Ophthalmology between January 2019 and August 2023. The inclusion criterion was the detection of an IHL on good-quality B-scan spectral-domain OCT. An IHL was defined as a vertical line extending from the ellipsoid zone band (or lower) through the outer nuclear layer to the internal limiting membrane in the central fovea. Associated retinal conditions were recorded as potential causative factors for the presence of IHL. IHL was observed on spectral-domain OCT in 40 eyes of 38 participants with several retinal diseases assessment. Fourteen eyes (35%) underwent vitreoretinal surgery pre-IHL detection (12 were operated for full-thickness macular hole [FTMH], one for epiretinal membrane [ERM], and one for rhegmatogenous retinal detachment). In six eyes (15%) a microhole coexisted. Four eyes (10%) had a concurrent lamellar macular hole. The IHL preceded the occurrence of FTMH in three eyes (7.5%), and diabetic macular edema and type 2 idiopathic macular telangiectasia (MacTel-2) were present in three eyes (7.5%) each. The remaining conditions included vitreomacular traction (VMT), nonarteritic anterior ischemic optic neuropathy with central retinal artery occlusion, commotio retinae, exudative age-related macular degeneration, ERM, non-infectious idiopathic posterior uveitis, and Coats' disease, each affecting one eye (2.5%). Of the two participants with bilateral involvement, one was diagnosed with MacTel-2 and the other had IHL with VMT in the right eye that was detected post-vitreoretinal surgery for FTMH in the left eye. Although IHLs are mostly identified in eyes with vitreomacular surface diseases, clinicians may encounter IHLs in other types of retinal pathology. Further large-scale, multicenter, long-term studies on the presence of IHLs in OCT imaging are required to provide more substantial insight on this biomarker.
Navigated Focal Laser of Macular Telangiectasia Type I (Adult-Onset Coats' Disease).
We aimed to evaluate the anatomical and functional outcome of selective photocoagulation of idiopathic macular telangiectasia type 1 by navigated focal laser (Navilas, OD-OS GmBH). Consecutive patients with idiopathic macular telangiectasia type 1 were included in the analysis. All patients were treated with navigated focal laser, planned on multimodal imaging. Seven eyes of seven patients were retrospectively analyzed. Navigated laser photocoagulation of idiopathic macular telangiectasia type 1 successfully occluded the microaneurysms, inducing regression of macular edema and exudation, significative improvement in best-corrected visual acuity at 3 (P = 0.035) and 6 months (P = 0.034) and a decrease in central macular thickness at 3 (P = 0.01) and 6 months (P = 0.01). Patients with idiopathic macular telangiectasia type 1 are ideal candidates for navigated laser treatment. Navigated focal treatment has been shown to be effective and safe in occluding aneurysmal dilations without any side effects. [Ophthalmic Surg Lasers Imaging Retina 2024;55:545-551.].
Developing a Continuous Severity Scale for Macular Telangiectasia Type 2 Using Deep Learning and Implications for Disease Grading.
Deep learning (DL) models have achieved state-of-the-art medical diagnosis classification accuracy. Current models are limited by discrete diagnosis labels, but could yield more information with diagnosis in a continuous scale. We developed a novel continuous severity scaling system for macular telangiectasia (MacTel) type 2 by combining a DL classification model with uniform manifold approximation and projection (UMAP). We used a DL network to learn a feature representation of MacTel severity from discrete severity labels and applied UMAP to embed this feature representation into 2 dimensions, thereby creating a continuous MacTel severity scale. A total of 2003 OCT volumes were analyzed from 1089 MacTel Project participants. We trained a multiview DL classifier using multiple B-scans from OCT volumes to learn a previously published discrete 7-step MacTel severity scale. The classifiers' last feature layer was extracted as input for UMAP, which embedded these features into a continuous 2-dimensional manifold. The DL classifier was assessed in terms of test accuracy. Rank correlation for the continuous UMAP scale against the previously published scale was calculated. Additionally, the UMAP scale was assessed in the κ agreement against 5 clinical experts on 100 pairs of patient volumes. For each pair of patient volumes, clinical experts were asked to select the volume with more severe MacTel disease and to compare them against the UMAP scale. Classification accuracy for the DL classifier and κ agreement versus clinical experts for UMAP. The multiview DL classifier achieved top 1 accuracy of 63.3% (186/294) on held-out test OCT volumes. The UMAP metric showed a clear continuous gradation of MacTel severity with a Spearman rank correlation of 0.84 with the previously published scale. Furthermore, the continuous UMAP metric achieved κ agreements of 0.56 to 0.63 with 5 clinical experts, which was comparable with interobserver κ values. Our UMAP embedding generated a continuous MacTel severity scale, without requiring continuous training labels. This technique can be applied to other diseases and may lead to more accurate diagnosis, improved understanding of disease progression, and key imaging features for pathologic characteristics. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Publicações recentes
One-year outcome of retinal displacement after internal limiting membrane peeling for macular hole.
Axial Length as a Risk Factor for Idiopathic Macular Hole: A Five-Year Prospective Study.
Outcome of Inverted Internal Limiting Membrane Flap Technique in Full- Thickness Macular Hole Secondary to Macular Telangiectasia Type 2.
Prediction of visual recovery after idiopathic macular hole surgery: a triad of tractional mechanics, subfoveal anatomy, and preoperative function.
A novel index using optical coherence tomography for predicting anatomical and visual outcomes of idiopathic macular hole surgery.
📚 EuropePMC122 artigos no totalmostrando 45
The Role of Nailfold Videocapillaroscopy (NVC) in Evaluating Ocular Diseases: Insights into Retinal, Choroidal, and Optic Nerve Pathologies.
Journal of clinical medicineIntraretinal hyperreflective line: potential biomarker in various retinal disorders.
Medical hypothesis, discovery & innovation ophthalmology journalNavigated Focal Laser of Macular Telangiectasia Type I (Adult-Onset Coats' Disease).
Ophthalmic surgery, lasers & imaging retinaSelf-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2.
JAMA ophthalmologyLongitudinal anatomical and visual outcome of macular telangiectasia type 2 in Asian patients.
Scientific reportsDeveloping a Continuous Severity Scale for Macular Telangiectasia Type 2 Using Deep Learning and Implications for Disease Grading.
OphthalmologyRelative Ellipsoid Zone Reflectivity in Macular Telangiectasia Type 2.
Investigative ophthalmology & visual scienceRelation of interdigitation zone changes and right-angle vessels in Macular Telangiectasia Type-2 (MacTel).
Eye (London, England)Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.
Journal of the peripheral nervous system : JPNSTwo years outcomes of treating full-thickness macula hole associated with idiopathic macular telangiectasia type 2 by internal limiting membrane inverted flap technique: Case reports.
MedicineBilateral Type 1 Idiopathic Macular Telangiectasia in a Female Patient: Multimodal Imaging of a Rare Presentation.
Case reports in ophthalmologyMultimodal Imaging Findings and Treatment with Dexamethasone Implant in Three Cases of Idiopathic Macular Telangiectasia Type 1.
Case reports in ophthalmologyRelevance of Multicolor Imaging in Type 2 Macular Telangiectasia.
Journal of current ophthalmologyIncidence and phenotypical variation of outer retina-associated hyperreflectivity in macular telangiectasia type 2.
The British journal of ophthalmologyFUNCTIONAL AND STRUCTURAL EFFECTS OF NONDAMAGING RETINAL LASER THERAPY FOR MACULAR TELANGIECTASIA TYPE 2: A Randomized Sham-Controlled Clinical Trial.
Retina (Philadelphia, Pa.)Deep learning-based classification and segmentation of retinal cavitations on optical coherence tomography images of macular telangiectasia type 2.
The British journal of ophthalmologyGENESIS OF RETINAL-CHOROIDAL ANASTOMOSIS IN MACULAR TELANGIECTASIA TYPE 2: A Longitudinal Analysis.
Retina (Philadelphia, Pa.)PERIPHERAL RETINAL ANGIOGRAPHIC FINDINGS IN MACULAR TELANGIECTASIS TYPE 2.
Retina (Philadelphia, Pa.)EARLY SPECTRAL-DOMAIN OPTICAL COHERENCE TOMOGRAPHY BIOMARKERS TO CONFIRM FELLOW EYE CHANGES IN ASYMMETRIC TYPE-2 MACULAR TELANGIECTASIA: A Case-Control Study (India Macular Telangiectasia Report 1).
Retina (Philadelphia, Pa.)Multicolor imaging in macular telangiectasia-a comparison with fundus autofluorescence.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieFocal laser for idiopathic macular telangectasia type 1 refractory to ozurdex, ranibizumab and aflibercept.
Archivos de la Sociedad Espanola de OftalmologiaEfficacy of Macular Hole Surgery in Patients with Idiopathic Macular Telangiectasia Type 2.
Ophthalmology. RetinaType 2 idiopathic macular telangiectasia (MacTel2).
Journal francais d'ophtalmologieMultifocal electroretinography in patients with macular telangiectasia type 2.
Documenta ophthalmologica. Advances in ophthalmologyInverted internal limiting membrane-flap technique to treat a full-thickness macular hole complicating idiopathic macular telangiectasia type 2.
European journal of ophthalmologyCHARACTERIZING RETINAL-CHOROIDAL ANASTOMOSIS IN MACULAR TELANGIECTASIA TYPE 2 WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.
Retina (Philadelphia, Pa.)MACULAR TELANGIECTASIA TYPE 2: Acircularity Index and Quantitative Assessment of Foveal Avascular Zone Using Optical Coherence Tomography Angiography.
Retina (Philadelphia, Pa.)STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS IN A PATIENT WITH MACULAR TELANGIECTASIA TYPE 2.
Retinal cases & brief reportsNo association between sleep apnoea and macular telangiectasia type 2 and its markers of severity and progression: a case-control study and retrospective cohort study.
Clinical & experimental ophthalmologyPredictive multi-imaging biomarkers relevant for visual acuity in idiopathic macular telangiectasis type 1.
BMC ophthalmologyIdiopathic macular telangiectasis type 2 and co-existent diabetic retinopathy.
International journal of retina and vitreousIdiopathic macular telangiectasia type 2: Prevalence and a morphometric and phenotypic study.
Archivos de la Sociedad Espanola de OftalmologiaOptical Coherence Tomography Angiography Findings in Type-2 Macular Telangiectasia.
Turkish journal of ophthalmologyCLINICAL FEATURES OF TREATED AND UNTREATED TYPE 1 IDIOPATHIC MACULAR TELANGIECTASIA WITHOUT THE OCCURRENCE OF SECONDARY CHOROIDAL NEOVASCULARIZATION FOLLOWED FOR 2 YEARS IN JAPANESE PATIENTS.
Retina (Philadelphia, Pa.)Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Nature geneticsIntravitreal Bevacizumab Treatment in Type 2 Idiopathic Macular Telangiectasia.
Turkish journal of ophthalmologyTreatment Modalities for Idiopathic Macular Telangiectasia: An Evidence-Based Systematic Review of the Literature.
Seminars in ophthalmologyDexamethasone Implant for the Treatment of Type 1 Idiopathic Macular Telangiectasia.
Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and TherapeuticsSHORT-TERM FLUCTUATION OF MACULAR EDEMA IN A PATIENT DIAGNOSED EARLY WITH IDIOPATHIC MACULAR TELANGIECTASIA TYPE 1: FOLLOW-UP WITH SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY.
Retinal cases & brief reportsCORRELATION OF OPTICAL COHERENCE TOMOGRAPHY AND MACULAR PIGMENT OPTICAL DENSITY MEASUREMENTS IN TYPE 2 IDIOPATHIC MACULAR TELANGIECTASIA.
Retina (Philadelphia, Pa.)Preretinal hemorrhage as a presenting sign of idiopathic macular telangiectasia type 2.
Clinical ophthalmology (Auckland, N.Z.)Idiopathic Macular Telangiectasia Type 1 with Ruptured Retinal Arterial Macroaneurysm Post Intravitreal Bevacizumab.
Middle East African journal of ophthalmologyEfficacy and safety of dexamethasone intravitreal implant for refractory macular edema in children.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieDemographic features of idiopathic macular telangiectasia in Korean patients.
Korean journal of ophthalmology : KJOType 1 idiopathic macular telangiectasia associated with type 3 neovascularization.
Case reports in ophthalmologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The Role of Nailfold Videocapillaroscopy (NVC) in Evaluating Ocular Diseases: Insights into Retinal, Choroidal, and Optic Nerve Pathologies.
- Self-Supervised Learning for Improved Optical Coherence Tomography Detection of Macular Telangiectasia Type 2.
- Intraretinal hyperreflective line: potential biomarker in various retinal disorders.Medical hypothesis, discovery & innovation ophthalmology journal· 2024· PMID 39507809mais citado
- Navigated Focal Laser of Macular Telangiectasia Type I (Adult-Onset Coats' Disease).
- Developing a Continuous Severity Scale for Macular Telangiectasia Type 2 Using Deep Learning and Implications for Disease Grading.
- One-year outcome of retinal displacement after internal limiting membrane peeling for macular hole.
- Axial Length as a Risk Factor for Idiopathic Macular Hole: A Five-Year Prospective Study.
- Outcome of Inverted Internal Limiting Membrane Flap Technique in Full- Thickness Macular Hole Secondary to Macular Telangiectasia Type 2.
- Prediction of visual recovery after idiopathic macular hole surgery: a triad of tractional mechanics, subfoveal anatomy, and preoperative function.
- A novel index using optical coherence tomography for predicting anatomical and visual outcomes of idiopathic macular hole surgery.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:353351(Orphanet)
- MONDO:0018147(MONDO)
- GARD:21532(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55787765(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
