Raras
Buscar doenças, sintomas, genes...
Síndrome de blefaroptose-miopia-ectopia do cristalino
ORPHA:1259CID-10 · Q15.8CID-11 · LA14.0YOMIM 110150DOENÇA RARA

Esta síndrome é caracterizada pela queda das pálpebras nos dois olhos desde o nascimento, um deslocamento da lente natural do olho e um grau elevado de miopia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta síndrome é caracterizada pela queda das pálpebras nos dois olhos desde o nascimento, um deslocamento da lente natural do olho e um grau elevado de miopia.

Publicações científicas
27.042 artigos
Último publicado: 2026 Apr 17

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
3
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q15.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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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

👁️
Olhos
6 sintomas
🦴
Ossos e articulações
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Ectopia lentis
Muito frequente (99-80%)
90%prev.
Ptose
Muito frequente (99-80%)
90%prev.
Miopia
Muito frequente (99-80%)
90%prev.
Glaucoma
Muito frequente (99-80%)
55%prev.
Displasia ungueal
Frequente (79-30%)
55%prev.
Edema palpebral
Frequente (79-30%)
13sintomas
Muito frequente (4)
Frequente (2)
Ocasional (4)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.

Ectopia lentis
Muito frequente (99-80%)90%
PtosePtosis
Muito frequente (99-80%)90%
MiopiaMyopia
Muito frequente (99-80%)90%
Glaucoma
Muito frequente (99-80%)90%
Displasia unguealFingernail dysplasia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico27.042PubMed
Últimos 10 anos200publicações
Pico202144 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de blefaroptose-miopia-ectopia do cristalino

🗺️

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
7.533 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 7.533

#1

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Ophthalmic genetics2026 Mar 23

To describe the clinical features, genetic variants, and management outcomes in ASPH-related ectopia lentis. Seven unrelated individuals (14 eyes) with ASPH-related ectopia lentis underwent detailed ocular, systemic evaluation and genetic analysis by whole-exome sequencing. The mean age at presentation was 22 years. Parental consanguinity was present in three individuals. All patients (100%) had progressive high myopia, ectopia lentis and characteristic facial dysmorphism. Lens subluxation was superior or superonasal in eleven eyes (78%) and posteriorly dislocated in three eyes (22%). Scleral thinning was noted in six eyes (43%), and one eye (7%) had spontaneous filtering bleb. Glaucoma was diagnosed in seven eyes (50%). Lensectomy was performed in eight eyes (57%): five by clear corneal approach and three via pars plana lensectomy (PPL). Postoperative filtering blebs with hypotony developed in two of three eyes that underwent PPL but in none following clear corneal approach. Cardiac abnormalities were detected in five individuals (71%). All individuals had biallelic pathogenic ASPH variants and two were novel. Scleral thinning and filtering blebs frequently occur at the site of lens subluxation and worsened by scleral surgery. Early lensectomy through a clear corneal approach minimizes scleral complications. Progressive cardiovascular involvement necessitates regular systemic monitoring.

#2

Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.

Journal of cataract and refractive surgery2026 Jan 28

To evaluate refractive growth following intraocular lens (IOL) implantation for Marfan syndrome (MFS) patients with ectopia lentis (EL) and identify influencing factors. Eye and ENT Hospital of Fudan University, Shanghai, China. Retrospective cohort study. Medical data were collected from patients diagnosed with MFS and EL underwent IOL implantation. Spherical equivalent (SE) and ocular biometric parameters were recorded preoperatively and serially postoperatively. The rate of refractive growth (RRG3) were calculated using aphakic refraction at the IOL plane against log10(age+0.6) years. Patients were stratified by surgical age with multivariate generalized estimating equation (GEE) analyses identifying predictive factors. A total of 374 eyes of 232 patients were enrolled in this study. Median age at surgery was 6.38 years (Interquartile range [IQR]:5.00-11.60), with a median follow-up of 3.17 years (IQR:2.17-4.54). The mean △SE/△AL was -2.04±1.84 diopter(D)/mm. The RRG3 model effectively controlled for age demonstrating a mean value of -14.1±10.2D. Greater postoperative myopia at baseline (β=0.849, P=0.022) and poorer postoperative best-corrected visual acuity (β=-10.333, P=0.001) were associated with more negative RRG3 value in patients aged ≤8 years. In patients aged 8-15 years at surgery, RRG3 was only correlated with postoperative SE (β=1.812, P<0.001). Age at surgery, IOL fixation technique and preoperative ocular biometrics were not significantly associated with RRG3. Refraction growth of MFS eyes with EL undergoing primary IOL implantation followed a logarithmic progression. Postoperative refractive status and visual acuity significantly influence refractive growth, underscoring the importance of careful postoperative monitoring and strategic undercorrection setting.

#3

Antipsychotic plasma concentration as predictor of movement disorders and cardiometabolic side-effects: A comparison with prescription dose.

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology2026 Apr

The clinical evidence for antipsychotic (AP) therapeutic drug monitoring (TDM) in evaluating AP-related movement disorders and cardiometabolic side-effects remains inconsistent. This study evaluates how AP plasma concentrations associate with movement disorders and cardiometabolic side-effects over time, and compares its predictive value to prescription dose in first-episode psychosis (FEP) patients. We included 200 remitted FEP patients from the HAMLETT trial. AP plasma concentrations were standardized using robust z-scores to accommodate different AP types. The St. Hans Rating Scale and Barnes Akathisia Rating Scale assessed movement disorders. Cardiometabolic indices included body mass index, waist circumference, blood pressure, glucose, triglycerides, and cholesterol. We evaluated longitudinal associations between plasma concentrations, movement disorders and cardiometabolic side-effects using two-part and linear mixed-effects models, and compared its predictive value to prescription dose using Bayesian Information Criterion (ΔBIC). Over a median 6-month follow-up (range = 0-48), AP plasma concentrations were positively associated with odds for parkinsonism (OR = 1.81, 95 % CI 1.27, 2.57, p = 0.001). No associations were found with tardive dyskinesia, akathisia, tardive dystonia, or cardiometabolic indices. AP plasma concentrations predicted parkinsonism better than prescription dose (ΔBIC = -2.95), but showed lower predictive value for waist circumference (ΔBIC = 3.22), total cholesterol (ΔBIC = 3.70), low-density-lipoprotein cholesterol (ΔBIC = 2.14) and non-high-density-lipoprotein cholesterol (ΔBIC = 5.46). These findings suggest that in remitted FEP patients, AP TDM may be more useful than dose in evaluating parkinsonism, likely because plasma concentrations more closely reflect free drugs at striatal dopamine receptors, but it does not appear useful for cardiometabolic side-effects.

#4

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

International journal of ophthalmology2026

To investigate the genetic basis of Weill-Marchesani syndrome (WMS) in a Chinese family and clarify the pathogenic mechanism of novel ADAMTS17 mutations. Comprehensive clinical assessments and genetic analyses were performed on a Chinese family with two affected siblings. Whole-exome sequencing (WES) was conducted for the proband and other family members. Bioinformatics tools were used to evaluate the conservation, predicted pathogenicity, and structural effects of the identified ADAMTS17 variants. In addition, protein structure modeling was applied to assess the functional impacts of the mutations. The proband (a 32-year-old male) and his elder sister (42y) presented typical clinical features of WMS, including short stature, brachydactyly, high myopia, ectopia lentis, and secondary glaucoma. WES identified a novel compound heterozygous mutation in ADAMTS17: a splicing mutation (c.451-2A>G) inherited from the father and a missense mutation (c.1043G>A; p.C348Y) inherited from the mother. The splicing mutation disrupted normal mRNA splicing and processing, leading to premature translation termination. The missense mutation, which is located in the metalloprotease catalytic domain, was predicted to abolish a critical disulfide bond, thereby impairing protein stability. Both mutations exhibited high evolutionary conservation and were predicted to be pathogenic by multiple bioinformatics algorithms. A novel compound heterozygous mutation in ADAMTS17 is identified in this WMS-affected Chinese family, and its pathogenicity is verified via bioinformatics analysis and protein structural modeling. These findings are expected to facilitate the genetic diagnosis of WMS and deepen the understanding of its molecular pathogenesis.

#5

Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.

BMC ophthalmology2026 Jan 18

To compare visual, refractive, and anatomical outcomes of lens extraction with Cionni ring and in-the-bag intraocular lens (IOL) implantation and Yamane intrascleral fixation in pediatric Marfan patients with lens subluxation. This retrospective cohort study included 21 patients (29 eyes) who underwent IOL implantation for ectopia lentis due to Marfan syndrome. Surgical techniques included Yamane sutureless scleral fixation and scleral fixation with Cionni capsular rings. Postoperative outcomes assessed were corrected visual acuity (CVA) in decimal, spherical equivalent (SE) refraction, lenticular astigmatism, IOL tilt/decentration, endothelial cell count, and complications. Sixteen eyes were included in the Yamane group and 13 in the Cionni group. Both groups demonstrated a significant improvement in CVA compared to preoperative values (Yamane, p = 0.001; Cionni p = 0.002). A significant postoperative improvement in SE was also noted in Yamane group (p = 0.009). The degree of IOL tilt was comparable between groups (Yamane, 0.80 ± 0.27°; Cionni, 1.33 ± 0.93°; p = 0.240); however, IOL decentration occurred in 4 eyes in the Cionni group and 3 eyes in the Yamane group. No major intraoperative complications were reported. Among the postoperative complications, retinal pathology and glaucoma each occurred in 2 patients in the Yamane group. The median postoperative follow-up duration was 16.6 (min-max: 7–34 months) months in the Modified Yamane group and 22.6(min-max: 8–35 months) months in the Cionni group (p = 0.232). In patients with lens subluxation secondary to Marfan syndrome, IOL implantation using either the Yamane technique or the Cionni ring yields favorable anatomical and functional outcomes. These methods may be considered viable options following thorough preoperative assessment, particularly when the risk of intraoperative and postoperative complications is deemed low.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 196

2026

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Ophthalmic genetics
2026

Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.

Journal of cataract and refractive surgery
2026

Antipsychotic plasma concentration as predictor of movement disorders and cardiometabolic side-effects: A comparison with prescription dose.

European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
2026

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

International journal of ophthalmology
2026

Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.

BMC ophthalmology
2026

Sutureless Intrascleral One-piece Intraocular Lens Fixation for Ectopia Lentis in Marfan Syndrome.

Journal of refractive surgery (Thorofare, N.J. : 1995)
2025

Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.

Molecular syndromology
2026

Surgical approach to ocular complications of Marfan syndrome.

Current opinion in ophthalmology
2025

Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review.

Molecular syndromology
2025

Predicting Actual Lens Position to Generate a Novel Intraocular Lens Power Calculation Formula for Marfan Syndrome.

Journal of refractive surgery (Thorofare, N.J. : 1995)
2026

Outcomes of Four-Point Sutured Scleral-Fixated Intraocular Lens Implantation Using Gore-Tex Suture in Paediatric Eyes.

Clinical &amp; experimental ophthalmology
2025

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.

Journal of translational medicine
2025

Surgical Outcomes of Lens Removal with or Without Intraocular Lens Implantation in Marfan Syndrome: A Retrospective Cohort Study.

Clinical ophthalmology (Auckland, N.Z.)
2025

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Human genome variation
2025

A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.

Scientific reports
2025

Associations between childhood maltreatment, PTSD and metabolic outcomes in patients with common mental disorders at outpatient clinics in specialized care.

BMC psychiatry
2025

Trajectories of depressive symptoms, metabolic syndrome, inflammation, and cardiometabolic diseases: A longitudinal Bayesian network approach.

Brain, behavior, and immunity
2026

ADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.

Ophthalmic genetics
2025

Establishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.

International journal of medical sciences
2025

Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.

Cureus
2025

Diagnosis of congenital ectopia lentis: a case report and review of the literature.

Journal of medical case reports
2025

Corneal characteristics in children with Marfan syndrome with or without ectopia lentis.

Pediatric investigation
2025

Visual and surgical outcomes of retinal detachment after Lens removal for ectopia lentis in pediatric patients with Marfan syndrome.

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

The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.

Case reports in medicine
2025

Outcomes of intralenticular lens aspiration with glued scleral-fixated intraocular lens for ectopia lentis in Marfan syndrome.

Journal of cataract and refractive surgery
2025

Longitudinal observation of posterior capsule opacification in pediatric eyes with Marfan syndrome after in-the-bag intraocular lens implantation.

Journal of cataract and refractive surgery
2025

[Marfan syndrome and related disorders].

Revue medicale suisse
2025

Social Media Interventions and Postoperative Follow-Up in Congenital Ectopia Lentis: A Randomized Clinical Trial.

JAMA ophthalmology
2025

Microspherophakia with an atypical temporal iris coloboma in a young female.

BMJ case reports
2025

Accuracy of Intraocular Lens Power Calculation in Microspherophakia Patients: Comparison of 7 Formulas.

Ophthalmic research
2025

Efficacy and outcome safety of capsular tension segment combined with capsular tension ring in children with ectopia lentis.

Oman journal of ophthalmology
2025

Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.

Investigative ophthalmology &amp; visual science
2025

Refractive Alterations in Marfan Syndrome: A Narrative Review.

Medicina (Kaunas, Lithuania)
2025

Lens coloboma with bilateral ectopia lentis in Marfan syndrome: a case report.

International journal of ophthalmology
2025

Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.

Journal of human genetics
2024

Dutch Validation of the Self-Evaluation of Negative Symptoms Scale (SNS).

Brain sciences
2024

The Etiology of Intraocular Lens Dislocation and Changes in Intraocular Pressure After Intrascleral Intraocular Lens Fixation Surgery.

Cureus
2024

Zonulopathies as Genetic Disorders of the Extracellular Matrix.

Genes
2025

Improving the accuracy of lens formulas for in-the-bag intraocular lens implantation in Marfan syndrome patients with ectopia lentis.

Journal of cataract and refractive surgery
2024

Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic.

European journal of pediatrics
2024

Safety and efficacy of the Yamane technique for intraocular three-piece lens implantation in Egyptian patients diagnosed with Marfan syndrome: a retrospective study.

BMC ophthalmology
2024

Magnetic Resonance Imaging of Temporomandibular Joint and Aortic Root Score in Fibrillinopathies.

Medicina (Kaunas, Lithuania)
2024

Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.

Diagnostics (Basel, Switzerland)
2024

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.

Cureus
2024

Phenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.

Cureus
2025

Evaluation of the clinical features of an outpatient cohort with Marfan syndrome.

International journal of cardiology
2024

Suture dehiscence in patients with connective tissue disease: Marfan and Weill-Marchesani syndromes.

Archivos de la Sociedad Espanola de Oftalmologia
2024

Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2024

Visual Outcomes in Ectopia Lentis in Marfan Syndrome: A Study of Four Surgical Techniques in Children and Adults.

Medicina (Kaunas, Lithuania)
2024

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Ophthalmic genetics
2024

Ectopia Lentis: Clinical profiles in a large cohort of children from a Tertiary Eye Care network in India.

Taiwan journal of ophthalmology
2024

Sunrise in the eye: Bilateral superonasal lens subluxation in Marfan syndrome.

Romanian journal of ophthalmology
2024

Diagnosis of Marfan Syndrome Following Progressive Myopia and Secondary Lens-Induced Angle Closure Crisis.

Cureus
2024

Zonular fibre Insertion-to-Limbus Distance (ZLD): normative data to assess lens position and diagnose ectopia lentis.

International ophthalmology
2024

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome.

Ophthalmology science
2024

Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.

Cureus
2024

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.

Gene
2024

Anterior scleral thickness in Marfan syndrome: A quantitative analysis.

Acta ophthalmologica
2024

Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

Ophthalmic research
2024

Mitral annular disjunction and its progression during childhood in Marfan syndrome.

European heart journal. Cardiovascular Imaging
2023

Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome.

The Journal of the Association of Physicians of India
2023

NON-TRAUMATIC ECTOPIA LENTIS IN A PAEDIATRIC OPHTHALMOLOGY PRACTICE, IBADAN, NIGERIA.

Annals of Ibadan postgraduate medicine
2024

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.

European journal of pediatrics
2024

Long-term results of anterior chamber iris claw intraocular lens implantation in children with ectopia lentis in Marfan syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2024

A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report.

Cureus
2024

Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis.

The British journal of ophthalmology
2024

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Genetics and molecular biology
2024

Predicting Marfan Syndrome in Children With Congenital Ectopia Lentis: Development and Validation of a Nomogram.

Translational vision science &amp; technology
2024

High persistence and low treatment rates of metabolic syndrome in patients with mood and anxiety disorders: A naturalistic follow-up study.

Journal of affective disorders
2024

[Structural and functional features of the eye in Marfan syndrome. Report 2. Changes in the anatomical complex of the lens].

Vestnik oftalmologii
2024

[Structural and functional features of the eye in Marfan syndrome. Report 1. Changes in the fibrous tunic of the eye].

Vestnik oftalmologii
2024

Safety and efficacy of capsular tension ring and capsular hook implantation for managing ectopia lentis in Marfan syndrome: real-world study.

Journal of cataract and refractive surgery
2024

The role of genetic testing in Marfan syndrome.

Current opinion in cardiology
2024

Biometric and corneal characteristics in marfan syndrome with ectopia lentis.

Journal francais d'ophtalmologie
2024

Longitudinal changes of refractive error in preschool children with congenital ectopia lentis.

International ophthalmology
2023

Congenital anomalies of lens shape.

Taiwan journal of ophthalmology
2024

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

Journal of clinical laboratory analysis
2024

Traboulsi syndrome: A case report.

Asian journal of surgery
2023

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.

Journal of medical case reports
2024

Uncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2023

Unilateral Congenital Lenticular Pigmentation.

Case reports in ophthalmology
2023

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

BMC pediatrics
2023

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.

Health science reports
2024

Long-term effects of experiencing childhood parental death on mental and physical health: A NESDA study.

Stress and health : journal of the International Society for the Investigation of Stress
2024

Postoperative longitudinal refractive changes in children younger than 8 years with ectopia lentis and Marfan syndrome.

Journal of cataract and refractive surgery
2024

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Journal of medical genetics
2023

Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2023

Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report.

The application of clinical genetics
2023

[Endocapsular fixation of intraocular lens in patients with ectopia lentis and Marfan syndrome (case study)].

Vestnik oftalmologii
2023

Diverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.

Oman journal of ophthalmology
2023

Eyes and the heart: what a clinician should know.

Heart (British Cardiac Society)
2023

Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.

Experimental eye research
2023

Cardiovascular risk assessment methods yield unequal risk predictions: a large cross-sectional study in psychiatric secondary care outpatients.

BMC psychiatry
2023

Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.

Diagnostics (Basel, Switzerland)
2023

Bilateral Anteriorly Displaced Microspherophakia in a Female Child With Marfanoid Habitus.

Cureus
2023

Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.

Ophthalmic genetics
2023

Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.

European journal of medical genetics
2023

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Genes
2023

Consensus recommendations on mental health issues in Phelan-McDermid syndrome.

European journal of medical genetics
2023

Marfan Syndrome Incorrectly Diagnosed as Autism.

Pediatrics
2024

Ocular Involvement and Treatment Pattern in Korean Patients with Marfan Syndrome: A Population-Based Study.

Ophthalmic epidemiology
2023

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

European journal of medical genetics
2023

What Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations.

Journal of personalized medicine
2023

Consensus recommendations on sleeping problems in Phelan-McDermid syndrome.

European journal of medical genetics
2023

Morphometric Assessment of the Ciliary Body in Patients With Marfan Syndrome and Ectopia Lentis: A Quantitative Study Using Ultrasound Biomicroscopy.

American journal of ophthalmology
2023

[Hereditary ectopia lentis: diagnosis and surgical treatment].

Vestnik oftalmologii
2023

Predicting axial length in patients with Marfan syndrome and ectopia lentis after modified capsular tension ring and intraocular lens implantation.

Journal of cataract and refractive surgery
2023

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative ophthalmology &amp; visual science
2022

Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report.

Frontiers in medicine
2023

Clinical and genetic findings in Chinese families with congenital ectopia lentis.

Molecular genetics &amp; genomic medicine
2022

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.

Frontiers in medicine
2023

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.

European journal of medical genetics
2022

Epidemiology of ectopia lentis and outcomes after surgery in a Danish population.

Journal of cataract and refractive surgery
2022

Outcomes of Iris-Claw IOL Implantation in Patients with Marfan's Syndrome in Jordan.

Clinical ophthalmology (Auckland, N.Z.)
2022

Personality traits and coping strategies in recent-onset psychosis: Associations with symptom severity and psychosocial functioning.

Schizophrenia research
2022

Cardiac Complications in Marfan Syndrome: A Review.

Cureus
2023

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.

Progress in retinal and eye research
2022

Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1.

European journal of medical genetics
2022

Late onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure.

BMJ case reports
2022

[Ocular manifestations of Marfan syndrome].

Vestnik oftalmologii
2022

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

European journal of medical genetics
2022

A Case of Refractory Childhood Glaucoma Secondary to Weill-Marchesani Syndrome: Management with Combined CO2 Laser-Assisted Sclerectomy Surgery and Trabeculectomy.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih
2022

Outcomes of surgical intervention in cases of ectopia lentis.

Indian journal of ophthalmology
2022

Steinberg sign and ectopia lentis: Marfan syndrome.

QJM : monthly journal of the Association of Physicians
2022

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.

Genes
2022

Understanding Behavior in Phelan-McDermid Syndrome.

Frontiers in psychiatry
2022

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.

Frontiers in psychiatry
2022

Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.

International ophthalmology
2022

Outcomes of Transscleral Two-Point Fixation Versus Closed Continuous-Loop Four-Point Fixation of Intraocular Lens in Subluxated Lens Secondary to Marfan Syndrome.

Ophthalmology and therapy
2022

Ectopia lentis surgery in Marfan's syndrome: from "couching" to the use of intracapsular tension rings.

Romanian journal of ophthalmology
2022

Myopia in the Diagnosis of Marfan Syndrome: An Important Early Sign of a Systemic Condition.

Cureus
2022

Simultaneous Management of Retinal Detachment and Aphakia with Pars Plana Vitrectomy, Silicone Oil Tamponade and Retropupillary Iris-Claw Intraocular Lens Implantation in These Cases.

Klinische Monatsblatter fur Augenheilkunde
2023

Late internalized double-flanged polypropylene with canabrava technique in patient with marfan syndrome.

European journal of ophthalmology
2022

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Case reports in genetics
2022

ADAMTS18 regulates early branching morphogenesis of lacrimal gland and has a significant association with the risk of dry eye in mice.

Experimental eye research
2021

Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis.

Frontiers in cell and developmental biology
2022

Clinical profile and outcome of ocular manifestation in Marfans syndrome in India.

Indian journal of ophthalmology
2022

Intraocular lens implantation with flattened flanged intrascleral fixation technique in pediatric aphakia.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2022

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Genetics in medicine : official journal of the American College of Medical Genetics
2021

Retrospective study on the incidence of pseudoexfoliatio lentis and related complications in a cohort of patients from the Island of Ischia: medico-legal and ergophthalmology considerations.

Romanian journal of ophthalmology
2021

Analysis of Corneal Spherical Aberrations in Chinese Bilateral Ectopia Lentis Patients.

Frontiers in medicine
2021

Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation.

BMC ophthalmology
2022

Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.

American journal of ophthalmology
2022

The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies.

Heart failure clinics
2021

Marfan syndrome and the eye clinic: from diagnosis to management.

Therapeutic advances in rare disease
2022

The impact of Marfan syndrome on an Aboriginal Australian family: 'I don't like it as much as I don't like cancer'.

Journal of genetic counseling
2021

Glycyrrhizic Acid Inhibits SARS-CoV-2 Infection by Blocking Spike Protein-Mediated Cell Attachment.

Molecules (Basel, Switzerland)
2021

Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.

Genes
2021

Adapted Bag-in-the-Lens Implantation Technique in Children with Congenital Ectopia Lentis.

Klinische Monatsblatter fur Augenheilkunde
2021

Satisfaction with social connectedness as a predictor for positive and negative symptoms of psychosis: A PHAMOUS study.

Schizophrenia research
2021

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.

Annals of palliative medicine
2021

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.

Human mutation
2021

Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue.

Journal of clinical medicine
2021

Scheimpflug-Based Analysis of the Reflectivity of the Cornea in Marfan Syndrome.

Translational vision science &amp; technology
2021

Evaluation of axial length/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan's syndrome in children.

International journal of ophthalmology
2022

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British journal of ophthalmology
2021

Sutureless Scleral-Fixated Intraocular Lens Implantation in the Treatment of Congenital Lens Subluxation Related to Marfan Syndrome.

Journal of pediatric ophthalmology and strabismus
2021

Long-Term Suture Breakage After Scleral Fixation of a Modified Capsular Tension Ring with Polypropylene 10-0 Suture.

Clinical ophthalmology (Auckland, N.Z.)
2021

Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome: A case report.

Medicine
2021

Comparison of retropupillary fixated iris claw lens versus sclera fixated lens for correction of pediatric aphakia secondary to ectopia lentis.

Oman journal of ophthalmology
2021

Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System.

Translational vision science &amp; technology
2021

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.

The American journal of case reports
2021

Analysis of Axial Length in Young Patients with Marfan Syndrome and Bilateral Ectopia Lentis by Z-Scores.

Ophthalmic research
2021

Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.

Ophthalmic genetics
2021

A Pedigree Report of a Rare Case of Weill-Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations.

Risk management and healthcare policy
2021

On the relation of white matter brain abnormalities and the asociality symptoms in schizophrenia outpatients - a DTI study.

Acta neurobiologiae experimentalis
2021

Surgical outcomes of modified capsular tension ring and intraocular lens implantation in Marfan syndrome with ectopia lentis.

European journal of ophthalmology
2021

Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.

American journal of medical genetics. Part A
2021

Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.

Experimental eye research
2021

Report of a Cluster of Cases of Toxic Anterior-segment Syndrome After Implantation of a Specific Intraocular Lens Model.

American journal of ophthalmology
2021

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?

European journal of medical genetics
2021

Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.

Case reports in genetics
2021

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.

Medicine
2021

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular medicine reports
2021

Binocular Triplopia Due to Decompensated Congenital Superior Oblique Paresis in A Patient with Marfan Syndrome; A Case Report and Review of Literature.

Journal of binocular vision and ocular motility
2022

Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome.

European journal of ophthalmology
2021

The psychometric validity of the Montgomery-Åsberg Depression Rating Scale (MADRS) in recent onset schizophrenia spectrum disorders.

Schizophrenia research
2021

Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome.

Scientific reports
2021

The mgΔlpn mouse model for Marfan syndrome recapitulates the ocular phenotypes of the disease.

Experimental eye research
2021

Insight does not come at random: Individual gray matter networks relate to clinical and cognitive insight in schizophrenia.

Progress in neuro-psychopharmacology &amp; biological psychiatry
2020

Differential diagnosis of Marfan syndrome based on ocular biologic parameters.

Annals of translational medicine
2021

A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.

Ophthalmic genetics
2021

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Molecular genetics &amp; genomic medicine
2021

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Clinical genetics
2020

Secondary intraocular lens implantation using the flanged intrascleral fixation technique in pediatric aphakia: case series and review of literature.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2020

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR
2021

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Bilateral ectopia lentis in opposite quadrants in a child with Marfan syndrome.

Indian journal of ophthalmology
2021

When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score.

Internal and emergency medicine
2020

Ocular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal.

Clinical ophthalmology (Auckland, N.Z.)
2020

Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report.

Case reports in ophthalmology
2020

Surgical management of non-syndromic ectopia lentis.

International journal of ophthalmology
2020

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.

Genes
2020

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Scientific reports

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
    Ophthalmic genetics· 2026· PMID 41871893mais citado
  2. Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.
    Journal of cataract and refractive surgery· 2026· PMID 41642055mais citado
  3. Antipsychotic plasma concentration as predictor of movement disorders and cardiometabolic side-effects: A comparison with prescription dose.
    European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology· 2026· PMID 41576855mais citado
  4. A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.
    International journal of ophthalmology· 2026· PMID 41572998mais citado
  5. Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
    BMC ophthalmology· 2026· PMID 41549238mais citado
  6. Abduction-Release Sign in Heavy Eye Syndrome.
    J Neuroophthalmol· 2026· PMID 41995157recente
  7. Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
    Cureus· 2026· PMID 41994773recente
  8. A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
    Front Vet Sci· 2026· PMID 41994257recente
  9. Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
    Saudi J Ophthalmol· 2026· PMID 41994245recente
  10. Potential mechanisms of the glucocorticoid withdrawal syndrome.
    Eur J Endocrinol· 2026· PMID 41988948recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1259(Orphanet)
  2. OMIM OMIM:110150(OMIM)
  3. MONDO:0007202(MONDO)
  4. GARD:912(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55780371(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

Síndrome de blefaroptose-miopia-ectopia do cristalino
Compêndio · Raras BR

Síndrome de blefaroptose-miopia-ectopia do cristalino

ORPHA:1259 · MONDO:0007202
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Autosomal dominant
CID-10
Q15.8 · Outras malformações congênitas especificadas do olho
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1862259
Wikidata
Papers 10a
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