Introdução
O que você precisa saber de cara
Euriblefaron é uma condição rara caracterizada por pálpebras anormalmente longas e estreitas, com cantos externos esticados. Isso pode levar a problemas de exposição ocular e ressecamento.
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
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 — Euriblefaron
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
Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.
To describe a medial canthoplasty surgical procedure in two horses for correction of euryblepharon, secondary to microphthalmia, and following excision of retrobulbar fat prolapse. A 1 year old thoroughbred mare was presented for small globes and chronic ocular discharge bilaterally. Ophthalmic examination revealed microphthalmos, euryblepharon, medial canthal pocket syndrome, and dacryocystitis bilaterally with no visual impairments. A 2 year old Appaloosa gelding was presented for evaluation of a smooth, subconjunctival mass anterior to the right globe in the medial canthus. Ophthalmic examination additionally revealed euryblepharon and mild lower eyelid ectropion. A medial canthoplasty procedure followed by placement of a partial temporary tarsorrhaphy was performed bilaterally on the first horse and on the right side in the second horse. The nasolacrimal puncta were identified and cannulated for the duration of the procedure. The medial canthal eyelid margin was everted and excised just medial to the puncta. The resection site was closed in two layers to restore normal anatomic lid position. On the second horse, the prolapsed retrobulbar fat was excised prior to the shortening blepharoplasty, and the peribulbar tissue and overlying conjunctiva were closed in two layers. Both horses experienced improvement in the clinical signs for which they were presented following surgery. Histopathology results confirmed a retrobulbar fat prolapse. Medial canthoplasty may be an effective technique for improving functional palpebral anatomy in horses with euryblepharon.
Ocular manifestations of trisomy 8 mosaicim: a rare case report.
Trisomy 8 mosaicism (T8M) also known as Warkany syndrome 2 is a rare chromosomal disorder characterized by a highly variable phenotypic presentation. Ranging from mild congenital anomalies to life and sight threatening associations. Currently, the most common ophthalmic manifestations are strabismus, hypertelorism, and corneal opacities. Other visually debilitating features include microphthalmia, retinal dystrophy, and optic disc coloboma. We present a case of a 9-year-old male who was referred to our ophthalmology service as a case of strabismus and bilateral ptosis with syndromic facial features of a protruded jaw, low set ears, and wide nasal bridge, and was later confirmed with cytogenetic analysis of T8M. To the best of our knowledge, this is the first reported case of T8M in our region, and the first to present euryblepharon as an associated ophthalmic manifestation, in addition to providing an updated review of the most commonly and newly documented manifestations of T8M. The phenotypic variation of T8M is diverse and often unpredictable, ranging from mild ocular findings to visually debilitating manifestations. Comprehensive awareness of its ophthalmic features can aid ophthalmologists in early recognition and appropriate genetic evaluation and counseling.
Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success. Two hours after the case conclusion, the patient developed a right upper eyelid hematoma. The hematoma was emergently expressed, and the wound was cauterized and sutured. On careful review of prior labs, the patient may have had chronic immune thrombocytopenia, a known comorbidity of Kabuki syndrome. This report not only describes a novel pathogenic variant in KMT2D causing Kabuki syndrome, but also details the surgical approaches to congenital ptosis, underscores the bleeding risk in patients with Kabuki syndrome, and reviews the approach to perioperative hematoma management.
A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.
Euryblepharon is a rare congenital eyelid malformation characterized by symmetrical horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension. The lateral canthus is most commonly affected. It can be isolated or associated with other anomalies and it is unclear what causes this appearance. Conservative treatment is the mainstay of treatment; however, in some severe cases, surgery is necessary. Surgery has been reported with varying degrees of success with failure of the resolution of the functional or cosmetic elements. In a retrospective case review, 7 patients were identified with euryblepharon. Some had mild changes and were asymptomatic with no concerns regarding the appearance of their eyelids, while others suffered from ocular irritation and dry eyes and were bothered by the cosmesis. Three opted to go ahead with surgery as they found conservative measures to be unsatisfactory. For those patients who opted for surgery, the authors performed lower eyelid bone fixation canthoplasty with septoretractor recession with or without a mucograft spacer. This technique corrected both their functional and cosmetic elements. The success in normalizing the lower lid position and contour without skin augmentation suggests that the underlying pathology is related to middle lamellar retraction and lateral canthal dystopia rather than skin deficiency. This new technique corrects both the functional and aesthetic issues without compromising on either element which has been the case in previous studies. It is also tissue-sparing and can be done as a day-case procedure.
Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Blepharocheilodontic (BCD) syndrome is a rare condition with eyelid ectropion, euryblepharon, lagophthalmos, congenital cleft lip/palate, and oligodontia. BCD syndrome is an autosomal dominant inherited disorder and has multiple associations with systemic diseases. We present three new cases of BCD syndrome and a literature review of the periocular manifestations of BCD and their management. A multi-institutional retrospective case series of patients with BCD syndrome. Clinical characteristics, imaging findings, surgical management, and outcomes were analysed. Further, a comprehensive review of the literature identified all previously published cases of BCD syndrome. Three cases of BCD syndrome in children with autosomal dominant inheritance were included. Periocular manifestations in BCD syndrome include lower lid ectropion, euryblepharon, and lagophthalmos. Systemic manifestations including cleft lip or palate and dental abnormalities were also observed. Multiple surgical procedures including lateral canthoplasty, tarsorrhaphy, and midface augmentation may be necessary for correction of eyelid malposition and achieving cosmetic and functional improvements. BCD syndrome presents with a spectrum of periocular manifestations requiring multidisciplinary management. Children that present with cleft lip and palate, dental, and eyelid abnormalities should be suspected to have BCD syndrome. Surgical management of the eyelid in BCD remains challenging. Ophthalmologists should be aware of BCD syndrome and its systemic associations.
Publicações recentes
Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.
🥉 Relato de casoOcular manifestations of trisomy 8 mosaicim: a rare case report.
Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.
Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
📚 EuropePMC16 artigos no totalmostrando 17
Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.
Veterinary ophthalmologyOcular manifestations of trisomy 8 mosaicim: a rare case report.
Ophthalmic geneticsOculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
Ophthalmic plastic and reconstructive surgeryA Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.
Ophthalmic plastic and reconstructive surgeryPeriocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Orbit (Amsterdam, Netherlands)Coronofrontal rhytidectomy: A new approach for the treatment of severe pseudoptosis and superior entropion in dogs.
Veterinary ophthalmologySurgical Management of Overgrowth Syndrome With Bilateral Vision-Threatening Ptosis.
Ophthalmic plastic and reconstructive surgeryCongenital ectropion in Noonan syndrome.
Archivos de la Sociedad Espanola de OftalmologiaConcurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case.
CureusTessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.
Indian journal of ophthalmologyAsyndromic isolated unilateral Tessier cleft 8 with euryblepharon.
BMJ case reportsEyelid Reconstruction and Infraorbital Repair Using a Mustardé Flap Technique in a Dog.
Topics in companion animal medicineCorneoconjunctival transposition for the treatment of deep stromal to full-thickness corneal defects in dogs: A multicentric retrospective study of 100 cases (2012-2018).
Veterinary ophthalmologyMEN 2B masquerading as chronic blepharitis and euryblepharon.
Orbit (Amsterdam, Netherlands)Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
European journal of human genetics : EJHGCongenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
Ophthalmic geneticsCorneal grafting for the treatment of full-thickness corneal defects in dogs: a review of 50 cases.
Veterinary ophthalmologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Euriblefaron.
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 Euriblefaron
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
Ainda não achamos doenças com sintomas parecidos o suficiente.
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.
- Modified Medial Canthoplasty for Correction of Euryblepharon in Two Horses.
- Ocular manifestations of trisomy 8 mosaicim: a rare case report.
- Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
- A Novel Surgical Technique Involving Bone Fixation Canthoplasty, Middle Lamellar Recession, and Mucograft Spacer in Treating Patients With Euryblepharon.
- Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99172(Orphanet)
- MONDO:0020464(MONDO)
- GARD:19674(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55789404(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