Introdução
O que você precisa saber de cara
Alice McPherson foi uma médica e professora canadense que dedicou sua carreira ao diagnóstico e tratamento de doenças da retina. Ela fundou a Retina Research Foundation e o McPherson Eye Research Institute. Em 2014, ela recebeu a Medalha Gonin da Universidade de Lausanne.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 1 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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 — Hamartoma combinado da retina e do epitélio pigmentado da retina
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Flame-shaped epiretinal membranes: expanding the spectrum beyond neurofibromatosis type 2.
To characterize the spectral-domain optical coherence tomography (SD-OCT) features of flame-shaped epiretinal membranes (ERMs) in patients with and without neurofibromatosis type 2 (NF2). This retrospective study included 9 patients (13 eyes) with flame-shaped ERMs from 3 tertiary centres. Multimodal imaging and clinical data were systematically analyzed. Six of 9 subjects with flame-shaped ERM were confirmed NF2 patients. Among the NF2 cohort of 12 eyes, SD-OCT revealed flame-shaped ERMs in 10 eyes (83%). Flame-shaped ERMs were bilateral in 4 patients (8 eyes) and unilateral in 2 patients (2 eyes). The fellow eyes of these 2 unilateral patients demonstrated combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and a retinal tuft, respectively. Isolated CHRRPE was noted in 3 eyes (25%) and a retinal tuft in 2 eyes (17%). Multiple retinal findings within the same eye occurred in 3 NF2 patients. By contrast, all 3 non-NF2 patients exhibited unilateral flame-shaped ERMs: 2 with CHRRPE and 1 isolated. OCT angiography performed in 4 patients revealed hyper-reflective foci anterior to the retinal nerve fibre layer in all 3 NF2 patients. During mean follow-up of 6.2 ± 3.4 years, findings remained stable in 78% of patients. One NF2 patient developed intraretinal cysts, while 1 non-NF2 patient underwent vitrectomy. Flame-shaped ERMs are strongly associated with NF2, and bilateral retinal lesions were present in all NF2 patients. However, they can also occur unilaterally with or without CHRRPE in non-NF2 cases. Early recognition of flame-shaped ERMs enables timely and systematic NF2 evaluation.
[Combined hamartoma of the retina and retinal pigment epithelium presenting as strabismic amblyopia in a 2-year-old].
Combined hamartoma of the retina and retinal pigment epithelium: unusual rapid progression and early surgical intervention.
We report a case of a young woman who presented with a vitreous haemorrhage associated with a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). During her clinical course, while the vitreous haemorrhage resolved, the lesion enlarged with a worsening epiretinal membrane. The patient's visual acuity reduced from 0.06 to 0.4 logMAR (Snellen equivalent of 6/7.5 to 6/30) with worsening metamorphopsia over a 13-week period. She shortly underwent pars plana vitrectomy with a membrane peel with an improved anatomical and visual outcome.The case presented shows an uncommon presentation of CHRRPE in a patient with rapid clinical progression, highlighting the favourable outcomes of early surgery.
Rethinking the definition of "combined retinal hamartoma": A call for taxonomical clarity.
Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) has long been regarded as a congenital, full-thickness malformation involving all retinal layers and the RPE. However, advances in multimodal imaging have revealed a subset of non-pigmented, inner-retinal lesions with features distinct from the CHRRPE phenotype described classically. These findings raise questions about whether such lesions share a common pathogenesis or represent earlier or separate entities. The term "combined hamartoma," implying a static congenital malformation, may therefore not fully capture their dynamic behavior and their variable retinal involvement. This editorial calls for taxonomical clarity to better align terminology with current imaging evidence and guide future research and treatments.
Combined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.
We present a case series of two young patients referred to our Ophthalmology Department with a progressive decrease in visual acuity of their left eye, where multimodal imaging findings led us to the diagnosis of combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE). Based on a literature review, we discuss the different multimodal imaging strategies, differential diagnosis, and management of CHR-RPE, a rare benign congenital lesion that can mimic malignant intraocular tumors. CHR-RPE has a challenging differential diagnosis with entities such as choroidal melanoma, nevus, retinoblastoma, and astrocytoma. A correct diagnosis approach is essential to avoid unnecessary invasive procedures. Multimodal imaging plays a crucial role: Optical coherence tomography (OCT) reveals epiretinal membranes (ERM) and retinal disorganization, and fluorescein angiography (FA) demonstrates vascular tortuosity and leakage in advanced disease. Management is usually conservative with strict follow-up. Surgical intervention, including vitrectomy and membrane peeling, remains controversial due to the risk of damaging dysplastic retina. Reported outcomes are variable, although selected cases showed visual improvement, particularly when combined with adjunctive enzymatic therapy.
Publicações recentes
[Combined hamartoma of the retina and retinal pigment epithelium presenting as strabismic amblyopia in a 2-year-old].
Flame-shaped epiretinal membranes: expanding the spectrum beyond neurofibromatosis type 2.
Rethinking the definition of "combined retinal hamartoma": A call for taxonomical clarity.
Combined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.
Combined hamartoma of the retina and retinal pigment epithelium: unusual rapid progression and early surgical intervention.
📚 EuropePMC92 artigos no totalmostrando 62
[Combined hamartoma of the retina and retinal pigment epithelium presenting as strabismic amblyopia in a 2-year-old].
Journal francais d'ophtalmologieFlame-shaped epiretinal membranes: expanding the spectrum beyond neurofibromatosis type 2.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieRethinking the definition of "combined retinal hamartoma": A call for taxonomical clarity.
European journal of ophthalmologyCombined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.
CureusCombined hamartoma of the retina and retinal pigment epithelium: unusual rapid progression and early surgical intervention.
BMJ case reportsUnilateral Retinal Pigment Epithelium Dysgenesis (URPED): New Cases, Literature Review, and Considerations of the Similarities and Differences with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE).
Retinal cases & brief reportsMultimodal imaging analysis of 40 cases of combined hamartoma of the retina and retinal pigment epithelium: a retrospective observational study.
BMC ophthalmologyOverlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusFilamentous RPE Hyperplasia in Combined Hamartoma of the Retina and RPE.
JAMA ophthalmologyCONCENTRIC MACULAR RINGS SIGN IN COMBINED HAMARTOMA OF RETINA AND RETINAL PIGMENT EPITHELIUM.
Retinal cases & brief reportsRetinal Ischemia as a Presenting Ocular Sign of Neurofibromatosis Type 2.
Case reports in ophthalmological medicineCombined hamartoma of the retina and retinal pigment epithelium: Case report.
Journal francais d'ophtalmologieDescription and surgical management of epiretinal membrane due to combined hamartoma of the retina and retinal pigment epithelium.
Advances in ophthalmology practice and researchDouble Retina Sign: A New Optical Coherence Tomography Finding in Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Journal of current ophthalmologyIncidental Unilateral Macular Lesions in Children.
Ophthalmic surgery, lasers & imaging retinaSecondary Choroidal Neovascularization in Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Journal of vitreoretinal diseasesJuxtapapillary combined hamartoma of the retina and retinal pigment epithelium.
Oman journal of ophthalmologyCombined hamartoma of the retina and retinal pigment epithelium: A case report.
World journal of clinical casesCombined hamartoma of the retina and retinal pigment epithelium.
Journal francais d'ophtalmologieHamartomas of the Retina and Optic Disc.
Turkish journal of ophthalmologySeven-year follow-up of a pediatric patient with combined hamartoma of retina and retinal pigment epithelium complicating with preretinal neovascularization and vitreous hemorrhage treated with intravitreal injections of bevacizumab.
Taiwan journal of ophthalmologyCOMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM AT PEDIATRIC AGE: Surgical Versus Conservative Approach.
Retina (Philadelphia, Pa.)Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient With Fragile X Syndrome.
Journal of pediatric ophthalmology and strabismusInternal limiting membrane peeling in combined hamartoma of retina and retinal pigment epithelium: Does it make a difference?
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietySurgical management of a combined hamartoma of the retina and retinal pigment epithelium.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieSubtle Combined Hamartoma of the Retina and Retinal Pigment Epithelium Causing Recurrent Exodeviation.
Case reports in ophthalmologyBilateral Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis Type 2.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyA case of combined hamartoma of the retina and retinal pigment epithelium with response to intravitreal ganciclovir injection.
Arquivos brasileiros de oftalmologiaCommon clinical features of unilateral retinal pigment epithelium dysgenesis and combined hamartoma of the retina and retinal pigment epithelium.
BMC ophthalmologySurgery for Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Case reports in ophthalmologyThe Omega Sign Is Not Distinct to Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Multimodal imaging in a patient with combined hamartoma of the retina and retina pigment epithelium.
Arquivos brasileiros de oftalmologiaRe: Ledesma-Gil et al: Presumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium (Ophthalmology Retina, 2021; doi: 10.1016/j.oret.2021.01.011).
Ophthalmology. RetinaCombined hamartoma of the retina and retinal pigment epithelium - MRI features of a rare paediatric intraocular tumour.
BJR case reportsPresumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Ophthalmology. RetinaVitrectomy for Tractional Retinal Detachment Due to Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Journal of vitreoretinal diseasesSurgical Outcomes of Epiretinal Membrane Removal Due to Combined Hamartoma of the Retina and RPE.
Ophthalmic surgery, lasers & imaging retinaPeripheral combined hamartoma of the retina and retinal pigment epithelium with remote peripapillary choroidal neovascular membrane.
American journal of ophthalmology case reportsEvolution of a Peripapillary Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Child.
JAMA ophthalmologyThe Pearl Necklace Sign in Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Ophthalmology. RetinaA child with unilateral disk elevation.
Survey of ophthalmologyOCT Angiography: Imaging of Choroidal and Retinal Tumors.
Ophthalmology. RetinaCase Report: Focal Choroidal Excavation Underlying Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Optometry and vision science : official publication of the American Academy of OptometryMultimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium.
European journal of ophthalmologyPeripapillary Versus Macular Combined Hamartoma of the Retina and Retinal Pigment Epithelium: Imaging Characteristics.
American journal of ophthalmologyCombined hamartoma of the retina and retinal pigment epithelium with intense pigmentation of the inner retinal layers.
Journal francais d'ophtalmologieMultiColorTM imaging in combined hamartoma of the retina and retinal pigment epithelium.
Eye (London, England)OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY EVALUATION OF COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM.
Retina (Philadelphia, Pa.)Combined Hamartoma of the Retina and Retinal Pigment Epithelium: An Optical Coherence Tomography-Based Reappraisal.
American journal of ophthalmologyJuvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNOVEL CLASSIFICATION SYSTEM FOR COMBINED HAMARTOMA OF THE RETINA AND RETINAL PIGMENT EPITHELIUM.
Retina (Philadelphia, Pa.)Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium.
Acta ophthalmologicaMultimodal imaging of combined hamartoma of the retina and retinal pigment epithelium associated with an acquired vitelliform lesion.
International journal of retina and vitreousCombined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane.
Case reports in ophthalmological medicineSurgical treatment in combined hamartoma of the retina and retinal pigment epithelium.
Archivos de la Sociedad Espanola de OftalmologiaDelayed presentation of a peripapillary combined hamartoma of the retina and retinal pigment epithelium.
Clinical & experimental optometryOptical Coherence Tomography Angiography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
Retina (Philadelphia, Pa.)Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2.
JAMA ophthalmologyLONG-TERM OUTCOME OF EPIRETINAL MEMBRANE SURGERY IN YOUNG CHILDREN.
Retina (Philadelphia, Pa.)Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMini- and Maxi-peaks of Combined Hamartoma on Enhanced Depth Imaging Optical Coherence Tomography.
Journal of pediatric ophthalmology and strabismusAcquired Combined Hamartoma of the Retina and Retinal Pigment Epithelium.
JAMA ophthalmologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hamartoma combinado da retina e do epitélio pigmentado da retina.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Hamartoma combinado da retina e do epitélio pigmentado da retina
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Flame-shaped epiretinal membranes: expanding the spectrum beyond neurofibromatosis type 2.
- [Combined hamartoma of the retina and retinal pigment epithelium presenting as strabismic amblyopia in a 2-year-old].
- Combined hamartoma of the retina and retinal pigment epithelium: unusual rapid progression and early surgical intervention.
- Rethinking the definition of "combined retinal hamartoma": A call for taxonomical clarity.
- Combined Hamartoma of the Retina and Retinal Pigment Epithelium: A Literature Review and Case Series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:440727(Orphanet)
- MONDO:0018607(MONDO)
- GARD:21843(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788213(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
