Introdução
O que você precisa saber de cara
Maculopatia torpedo é uma condição ocular rara caracterizada por lesões em forma de torpedo na mácula, afetando a visão central. Sua causa exata e herança genética ainda são pouco compreendidas.
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 — Maculopatia torpedo
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Multimodal imaging observation of torpedo maculopathy.
An 18-year-old male was discovered with an oval, 1PD-sized, well-defined lesion on the inferonasal fovea of the right eye. Multimodal imaging was carried out. The lesion was diagnosed as torpedo maculopathy (TM). Most TM patients have no visual symptoms, are often detected during routine examination, and are generally stable.
Case report and literature review of torpedo maculopathy in four preterm infants.
Torpedo Maculopathy.
A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.
To report an atypical retinal finding of torpedo maculopathy in a three-year-old boy. A retrospective case report. Optical Coherence Tomography examination of the retinal lesion showed a hyper-reflectivity of the outer layers associated with a Serous Retinal Detachment (SRD) with an extension of the outer segments of the photoreceptors. Furthermore, the external limiting membrane and the retinal pigment epithelium are intact. Although the reflectance of the ellipsoid zone appears diminished, no disruptions were observed, suggesting that the ellipsoid zone is likely undamaged. This maculopathy is predominantly associated with a SRD, rather than the tissue atrophy typically described in types 1, 2, 3, and 4. This association has already been described but is not included in current classifications. We propose to potentially add a"with SRF" stage to the current classifications.
Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.
Purpose: Torpedo maculopathy is a rare congenital anomaly of the retinal pigment epithelium (RPE) involving the temporal edge of the macula, often diagnosed incidentally. There is minimal evidence in the ophthalmic literature regarding the multimodal imaging characteristics of these lesions. Existing classification systems inadequately describe detailed optical coherence tomography (OCT) features of the entity. Methods: This retrospective study included 18 torpedo maculopathy lesions from 16 patients at a tertiary care ophthalmic institution in Southern India over 6 years. Patients underwent detailed sociodemographic analysis and multimodal imaging. Prominent OCT biomarkers were analyzed in detail for each case. Results: The mean lesion size was 4.25 mm² (median, 2.96 mm²). Best-corrected visual acuity (BCVA) was 20/20 in the majority (75.0%) of cases. The fovea was involved in 4 patients. Interdigitate zone (IZ) disorganization was observed in all cases. Outer retinal cavitation was present in 7 lesions, often associated with focal choroidal excavation or inner retinal thinning. The remaining 11 lesions from 9 patients did not show outer retinal cavitation. Based on these findings, we propose a modified OCT-based classification for torpedo maculopathy. In the new system, type 1 describes lesions without outer retinal cavitation, whereas type 2 includes lesions with outer retinal cavitation, further subdivided into 4 groups based on inner retinal changes and focal choroidal excavation. Conclusions: This study provides a detailed description of OCT biomarkers associated with torpedo lesions and proposes a more descriptive OCT-based classification system for torpedo maculopathy.
Publicações recentes
A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.
Multimodal imaging observation of torpedo maculopathy.
🥉 Relato de casoCase report and literature review of torpedo maculopathy in four preterm infants.
Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.
📚 EuropePMC91 artigos no totalmostrando 84
A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.
Retinal cases & brief reportsMultimodal imaging observation of torpedo maculopathy.
GMS ophthalmology casesCase report and literature review of torpedo maculopathy in four preterm infants.
International journal of ophthalmologyOptical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.
Journal of vitreoretinal diseasesExtramacular torpedo retinopathy: A very rare clinical presentation.
Oman journal of ophthalmologyAnti-vascular endothelial growth factor therapies in ophthalmology.
Medical hypothesis, discovery & innovation ophthalmology journalType 2 Torpedo Maculopathy With Outer Retinal Cavitation in a Young Adult: A Case Report and Literature Review.
Ophthalmic surgery, lasers & imaging retina[Bilateral torpedo maculopathy].
Journal francais d'ophtalmologieProgressive Changes in a Torpedo Maculopathy Lesion Over a 6-Year Period.
Journal of current ophthalmologyTorpedo maculopathy in a patient with DeSanto-Shinawi syndrome.
European journal of ophthalmologyAcute zonal occult outer retinopathy (AZOOR) complex associated with torpedo retinopathy following COVID-19 recombinant mRNA vaccination: a case report of a rare clinical presentation.
BMC ophthalmologyMultifocal Torpedo Maculopathy Complicated by Choroidal Neovascularization.
Journal of vitreoretinal diseasesType 1 and type 2 torpedo maculopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieTorpedo Maculopathy: Case Series of an Underdiagnosed and Rare Condition Using Multimodal Imaging.
Klinische Monatsblatter fur AugenheilkundeLong-term follow-up of torpedo maculopathy: a case series and mini-review.
BMC ophthalmologyA unique presentation of subretinal fluid in a type III torpedo maculopathy phenotype.
American journal of ophthalmology case reportsTorpedo maculopathy in Costello syndrome.
Journal francais d'ophtalmologieTorpedo Maculopathy. A Case Report.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiTorpedo maculopathy: multimodal and retromodal imaging.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieUnusual presentation of tractional retinal detachment in beta thalassemia minor.
American journal of ophthalmology case reportsAssociation of torpedo maculopathy and keratoconus in a young patient: A multimodal imaging study.
European journal of ophthalmologyMultimodal imaging of type II Torpedo maculopathy.
Journal francais d'ophtalmologieCHOROIDAL NEOVASCULARIZATION IN TORPEDO MACULOPATHY TREATED BY AFLIBERCEPT: LONG-TERM FOLLOW-UP USING OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.
Retinal cases & brief reportsIncidental Unilateral Macular Lesions in Children.
Ophthalmic surgery, lasers & imaging retinaA rare case of hyperpigmented torpedo maculopathy.
European journal of ophthalmologyExpanded Spectrum Torpedo Retinopathy: A Case Series.
Case reports in ophthalmologyMultimodal imaging of torpedo maculopathy with optical coherence tomography angiography.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMultimodal Imaging of Choroidal Structural in Torpedo Maculopathy.
Frontiers in medicineFundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.
JAMA ophthalmologyCase report: Torpedo maculopathy in a pediatric patient.
Romanian journal of ophthalmologyMultimodal Imaging of Torpedo Maculopathy With Fluorescence Adaptive Optics Imaging of Individual Retinal Pigmented Epithelial Cells.
Frontiers in medicinePrimary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications.
The British journal of ophthalmologyCase Report: Use of Multimodal Imaging to Document a Rare Complication of Torpedo Maculopathy.
Optometry and vision science : official publication of the American Academy of OptometryClinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
Eye (London, England)Congenital ocular toxoplasmosis with torpedo maculopathy and retinopathy of prematurity in a premature baby.
American journal of ophthalmology case reportsCorrespondence on Turkoglu EB, Erol MK, Karaca BO, Coexistence of torpedo maculopathy and retinoblastoma: Differentiation the lesions with hand held optical coherence tomography, Photodiagnosis and photodynamic therapy 34 (2021) 102331.
Photodiagnosis and photodynamic therapyTorpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view.
Ophthalmic geneticsCoexistence of torpedo maculopathy and retinoblastoma: Differentiation the lesions with hand-held optical coherence tomography.
Photodiagnosis and photodynamic therapyTorpedo maculopathy-inferior variant.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieTorpedo Maculopathy: A Systematic Review of Case Reports.
Ophthalmic surgery, lasers & imaging retinaAdaptive optics ophthalmoscopy, multifocal ERG and OCTA in unique case of suspected torpedo maculopathy presenting with vitelliform lesion.
American journal of ophthalmology case reportsSecondary choroidal neovascular membrane in a case of torpedo maculopathy.
Indian journal of ophthalmologyA novel phenotype of torpedo maculopathy on spectral-domain optical coherence tomography.
American journal of ophthalmology case reportsChoroidal Cavitary Disorders.
Clinical ophthalmology (Auckland, N.Z.)[Tumor-like diseases and retinal hamartomas in ophthalmological practice].
Vestnik oftalmologiiIndocyanine green angiography and multimodal imaging in a case of torpedo maculopathy.
Indian journal of ophthalmologyTorpedo maculopathy complicated by choroidal neovascularization.
American journal of ophthalmology case reportsTomographic characteristics of focal choroidal excavation and its association with retinal disorders.
European journal of ophthalmologyOcular manifestations in Congenital Zika syndrome: About a case of torpedo maculopathy.
American journal of ophthalmology case reportsCASE OF TORPEDO MACULOPATHY WITH TWO DISTINCT ZONES OF THE RETINAL PIGMENT EPITHELIUM.
Retinal cases & brief reportsTorpedo maculopathy: A case series - insights into basic pathology.
European journal of ophthalmologyDistribution patterns of torpedo maculopathy: Further evidence of a congenital retinal nerve fiber layer-driven etiology.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyTorpedo Maculopathy Associated with NEXMIF Mutation.
Molecular syndromologyStructural-functional correlation using adaptive optics, visual fields, optical coherence tomography and multifocal electroretinogram in a case of torpedo maculopathy.
Indian journal of ophthalmologyMultimodal imaging of torpedo maculopathy in a Chinese woman: a case report.
BMC ophthalmologyMultimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies.
Ophthalmology. RetinaMultipartite Torpedo Maculopathy.
Journal of pediatric ophthalmology and strabismusMultimodal imaging of torpedo maculopathy including adaptive optics.
European journal of ophthalmologyMulticolor imaging findings in torpedo maculopathy.
Indian journal of ophthalmologyHyperpigmented torpedo maculopathy.
Indian journal of ophthalmologyChoroidal Neovascularization in Torpedo Maculopathy Assessed on Optical Coherence Tomography Angiography.
Ophthalmic surgery, lasers & imaging retinaCommentary: Inner retinal excavation in torpedo maculopathy and proposed type 3 lesions in optical coherence tomography.
Indian journal of ophthalmologyMultimodal imaging of torpedo-shaped fundus lesions: New insights.
Indian journal of ophthalmologyTorpedo maculopathy with double torpedoes.
Indian journal of ophthalmologyMorpho-functional evaluation of torpedo maculopathy with optical coherence tomography angiography and microperimetry.
American journal of ophthalmology case reportsTorpedo maculopathy: disease spectrum and associated choroidal neovascularisation in a paediatric population.
Eye (London, England)Torpedo maculopathy with multifocal central serous chorioretinopathy: A rare case report.
Indian journal of ophthalmologyTorpedo maculopathy: A primary choroidal capillary abnormality?
Indian journal of ophthalmology[Torpedo macu-lopathy (clinical case)].
Vestnik oftalmologiiSwept-Source Optical Coherence Tomography Angiography Findings in Torpedo Maculopathy.
Ophthalmic surgery, lasers & imaging retinaTorpedo Maculopathy in a 6-Month-Old Infant: Early Clinical and Optical Coherence Tomography Findings.
Journal of pediatric ophthalmology and strabismusTorpedo maculopathy with serous detachment of retinal pigment epithelium.
Archivos de la Sociedad Espanola de OftalmologiaTorpedo Maculopathy Associated with Choroidal Neovascularization.
Klinische Monatsblatter fur AugenheilkundeA deeper look at torpedo maculopathy.
Clinical & experimental optometryTumors and Related Lesions of the Pigmented Epithelium.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FEATURES OF TORPEDO MACULOPATHY.
Retinal cases & brief reportsMULTIMODALITY IMAGING OF TORPEDO MACULOPATHY WITH SWEPT-SOURCE, EN FACE OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.
Retinal cases & brief reportsOptical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis.
Acta ophthalmologicaTorpedo Maculopathy Presenting With a Vitelliform Lesion.
Retina (Philadelphia, Pa.)Hyperpigmented Torpedo Maculopathy with Pseudo-Lacuna: A 5-Year Follow-Up.
Case reports in ophthalmologyExpanded Spectrum of Congenital Ocular Findings in Microcephaly with Presumed Zika Infection.
OphthalmologyTorpedo maculopathy: Two case reports and a literature review.
Archivos de la Sociedad Espanola de OftalmologiaTwo case reports of torpedo maculopathy.
Klinische Monatsblatter fur AugenheilkundeSpectral-domain optical coherence tomography and fundus autofluorescence evaluation of torpedo maculopathy.
Journal of pediatric ophthalmology and strabismusAssociações
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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.
- Multimodal imaging observation of torpedo maculopathy.
- Case report and literature review of torpedo maculopathy in four preterm infants.
- Torpedo Maculopathy.
- A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.
- Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:674935(Orphanet)
- MONDO:0971125(MONDO)
- Busca completa no PubMed(PubMed)
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