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Maculopatia torpedo
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Introdução

O que você precisa saber de cara

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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.

Publicações científicas
108 artigos
Último publicado: 2025 Aug 4

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
80
pacientes catalogados
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico108PubMed
Últimos 10 anos89publicações
Pico202111 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Maculopatia torpedo

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
89 papers (10 anos)
#1

Multimodal imaging observation of torpedo maculopathy.

GMS ophthalmology cases2026

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.

#2

Case report and literature review of torpedo maculopathy in four preterm infants.

International journal of ophthalmology2026
#3

Torpedo Maculopathy.

Mayo Clinic proceedings2026 Feb
#4

A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.

Retinal cases &amp; brief reports2025 Aug 04

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.

#5

Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.

Journal of vitreoretinal diseases2025 Dec 29

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

Ver todas no PubMed

📚 EuropePMC91 artigos no totalmostrando 84

2025

A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.

Retinal cases &amp; brief reports
2026

Multimodal imaging observation of torpedo maculopathy.

GMS ophthalmology cases
2026

Case report and literature review of torpedo maculopathy in four preterm infants.

International journal of ophthalmology
2025

Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.

Journal of vitreoretinal diseases
2025

Extramacular torpedo retinopathy: A very rare clinical presentation.

Oman journal of ophthalmology
2025

Anti-vascular endothelial growth factor therapies in ophthalmology.

Medical hypothesis, discovery &amp; innovation ophthalmology journal
2025

Type 2 Torpedo Maculopathy With Outer Retinal Cavitation in a Young Adult: A Case Report and Literature Review.

Ophthalmic surgery, lasers &amp; imaging retina
2025

[Bilateral torpedo maculopathy].

Journal francais d'ophtalmologie
2024

Progressive Changes in a Torpedo Maculopathy Lesion Over a 6-Year Period.

Journal of current ophthalmology
2025

Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

European journal of ophthalmology
2025

Acute 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 ophthalmology
2025

Multifocal Torpedo Maculopathy Complicated by Choroidal Neovascularization.

Journal of vitreoretinal diseases
2024

Type 1 and type 2 torpedo maculopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Torpedo Maculopathy: Case Series of an Underdiagnosed and Rare Condition Using Multimodal Imaging.

Klinische Monatsblatter fur Augenheilkunde
2024

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

BMC ophthalmology
2024

A unique presentation of subretinal fluid in a type III torpedo maculopathy phenotype.

American journal of ophthalmology case reports
2024

Torpedo maculopathy in Costello syndrome.

Journal francais d'ophtalmologie
2023

Torpedo Maculopathy. A Case Report.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2024

Torpedo maculopathy: multimodal and retromodal imaging.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

Unusual presentation of tractional retinal detachment in beta thalassemia minor.

American journal of ophthalmology case reports
2024

Association of torpedo maculopathy and keratoconus in a young patient: A multimodal imaging study.

European journal of ophthalmology
2023

Multimodal imaging of type II Torpedo maculopathy.

Journal francais d'ophtalmologie
2023

CHOROIDAL NEOVASCULARIZATION IN TORPEDO MACULOPATHY TREATED BY AFLIBERCEPT: LONG-TERM FOLLOW-UP USING OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

Retinal cases &amp; brief reports
2023

Incidental Unilateral Macular Lesions in Children.

Ophthalmic surgery, lasers &amp; imaging retina
2024

A rare case of hyperpigmented torpedo maculopathy.

European journal of ophthalmology
2023

Expanded Spectrum Torpedo Retinopathy: A Case Series.

Case reports in ophthalmology
2023

Multimodal imaging of torpedo maculopathy with optical coherence tomography angiography.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2023

Multimodal Imaging of Choroidal Structural in Torpedo Maculopathy.

Frontiers in medicine
2022

Fundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.

JAMA ophthalmology
2021

Case report: Torpedo maculopathy in a pediatric patient.

Romanian journal of ophthalmology
2021

Multimodal Imaging of Torpedo Maculopathy With Fluorescence Adaptive Optics Imaging of Individual Retinal Pigmented Epithelial Cells.

Frontiers in medicine
2023

Primary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications.

The British journal of ophthalmology
2021

Case Report: Use of Multimodal Imaging to Document a Rare Complication of Torpedo Maculopathy.

Optometry and vision science : official publication of the American Academy of Optometry
2022

Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.

Eye (London, England)
2021

Congenital ocular toxoplasmosis with torpedo maculopathy and retinopathy of prematurity in a premature baby.

American journal of ophthalmology case reports
2021

Correspondence 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 therapy
2021

Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view.

Ophthalmic genetics
2021

Coexistence of torpedo maculopathy and retinoblastoma: Differentiation the lesions with hand-held optical coherence tomography.

Photodiagnosis and photodynamic therapy
2024

Torpedo maculopathy-inferior variant.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2021

Torpedo Maculopathy: A Systematic Review of Case Reports.

Ophthalmic surgery, lasers &amp; imaging retina
2021

Adaptive optics ophthalmoscopy, multifocal ERG and OCTA in unique case of suspected torpedo maculopathy presenting with vitelliform lesion.

American journal of ophthalmology case reports
2020

Secondary choroidal neovascular membrane in a case of torpedo maculopathy.

Indian journal of ophthalmology
2020

A novel phenotype of torpedo maculopathy on spectral-domain optical coherence tomography.

American journal of ophthalmology case reports
2020

Choroidal Cavitary Disorders.

Clinical ophthalmology (Auckland, N.Z.)
2020

[Tumor-like diseases and retinal hamartomas in ophthalmological practice].

Vestnik oftalmologii
2020

Indocyanine green angiography and multimodal imaging in a case of torpedo maculopathy.

Indian journal of ophthalmology
2020

Torpedo maculopathy complicated by choroidal neovascularization.

American journal of ophthalmology case reports
2021

Tomographic characteristics of focal choroidal excavation and its association with retinal disorders.

European journal of ophthalmology
2020

Ocular manifestations in Congenital Zika syndrome: About a case of torpedo maculopathy.

American journal of ophthalmology case reports
2022

CASE OF TORPEDO MACULOPATHY WITH TWO DISTINCT ZONES OF THE RETINAL PIGMENT EPITHELIUM.

Retinal cases &amp; brief reports
2021

Torpedo maculopathy: A case series - insights into basic pathology.

European journal of ophthalmology
2019

Distribution 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 Society
2019

Torpedo Maculopathy Associated with NEXMIF Mutation.

Molecular syndromology
2019

Structural-functional correlation using adaptive optics, visual fields, optical coherence tomography and multifocal electroretinogram in a case of torpedo maculopathy.

Indian journal of ophthalmology
2019

Multimodal imaging of torpedo maculopathy in a Chinese woman: a case report.

BMC ophthalmology
2019

Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies.

Ophthalmology. Retina
2019

Multipartite Torpedo Maculopathy.

Journal of pediatric ophthalmology and strabismus
2020

Multimodal imaging of torpedo maculopathy including adaptive optics.

European journal of ophthalmology
2019

Multicolor imaging findings in torpedo maculopathy.

Indian journal of ophthalmology
2019

Hyperpigmented torpedo maculopathy.

Indian journal of ophthalmology
2018

Choroidal Neovascularization in Torpedo Maculopathy Assessed on Optical Coherence Tomography Angiography.

Ophthalmic surgery, lasers &amp; imaging retina
2018

Commentary: Inner retinal excavation in torpedo maculopathy and proposed type 3 lesions in optical coherence tomography.

Indian journal of ophthalmology
2018

Multimodal imaging of torpedo-shaped fundus lesions: New insights.

Indian journal of ophthalmology
2018

Torpedo maculopathy with double torpedoes.

Indian journal of ophthalmology
2018

Morpho-functional evaluation of torpedo maculopathy with optical coherence tomography angiography and microperimetry.

American journal of ophthalmology case reports
2018

Torpedo maculopathy: disease spectrum and associated choroidal neovascularisation in a paediatric population.

Eye (London, England)
2018

Torpedo maculopathy with multifocal central serous chorioretinopathy: A rare case report.

Indian journal of ophthalmology
2018

Torpedo maculopathy: A primary choroidal capillary abnormality?

Indian journal of ophthalmology
2017

[Torpedo macu-lopathy (clinical case)].

Vestnik oftalmologii
2017

Swept-Source Optical Coherence Tomography Angiography Findings in Torpedo Maculopathy.

Ophthalmic surgery, lasers &amp; imaging retina
2017

Torpedo Maculopathy in a 6-Month-Old Infant: Early Clinical and Optical Coherence Tomography Findings.

Journal of pediatric ophthalmology and strabismus
2017

Torpedo maculopathy with serous detachment of retinal pigment epithelium.

Archivos de la Sociedad Espanola de Oftalmologia
2017

Torpedo Maculopathy Associated with Choroidal Neovascularization.

Klinische Monatsblatter fur Augenheilkunde
2017

A deeper look at torpedo maculopathy.

Clinical &amp; experimental optometry
2017

Tumors and Related Lesions of the Pigmented Epithelium.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2019

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FEATURES OF TORPEDO MACULOPATHY.

Retinal cases &amp; brief reports
2018

MULTIMODALITY IMAGING OF TORPEDO MACULOPATHY WITH SWEPT-SOURCE, EN FACE OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

Retinal cases &amp; brief reports
2016

Optical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis.

Acta ophthalmologica
2017

Torpedo Maculopathy Presenting With a Vitelliform Lesion.

Retina (Philadelphia, Pa.)
2016

Hyperpigmented Torpedo Maculopathy with Pseudo-Lacuna: A 5-Year Follow-Up.

Case reports in ophthalmology
2016

Expanded Spectrum of Congenital Ocular Findings in Microcephaly with Presumed Zika Infection.

Ophthalmology
2016

Torpedo maculopathy: Two case reports and a literature review.

Archivos de la Sociedad Espanola de Oftalmologia
2015

Two case reports of torpedo maculopathy.

Klinische Monatsblatter fur Augenheilkunde
2015

Spectral-domain optical coherence tomography and fundus autofluorescence evaluation of torpedo maculopathy.

Journal of pediatric ophthalmology and strabismus
Ver todos os 91 no EuropePMC

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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.

  1. Multimodal imaging observation of torpedo maculopathy.
    GMS ophthalmology cases· 2026· PMID 41716603mais citado
  2. Case report and literature review of torpedo maculopathy in four preterm infants.
    International journal of ophthalmology· 2026· PMID 41572990mais citado
  3. Torpedo Maculopathy.
    Mayo Clinic proceedings· 2026· PMID 41467873mais citado
  4. A 3-year-old pediatric case of torpedo maculopathy associated with a serous retinal detachment.
    Retinal cases &amp; brief reports· 2025· PMID 41773874mais citado
  5. Optical Coherence Tomography Characterization of Torpedo Retinopathy: Diving Deep in Search of a Newer Classification System.
    Journal of vitreoretinal diseases· 2025· PMID 41477618mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:674935(Orphanet)
  2. MONDO:0971125(MONDO)
  3. 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

Compêndio · Raras BR

Maculopatia torpedo

ORPHA:674935 · MONDO:0971125
Prevalência
<1 / 1 000 000
Casos
80 casos conhecidos
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5891237
EuropePMC
Papers 10a
Evidência
🥉 Relato de caso
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