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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 13 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de blefaroptose-miopia-ectopia do cristalino
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 7.533
ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
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.
Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.
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.
Antipsychotic plasma concentration as predictor of movement disorders and cardiometabolic side-effects: A comparison with prescription dose.
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.
A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.
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.
Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
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.
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📚 EuropePMCmostrando 196
ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
Ophthalmic geneticsRefractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.
Journal of cataract and refractive surgeryAntipsychotic 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 NeuropsychopharmacologyA novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.
International journal of ophthalmologyComparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
BMC ophthalmologySutureless Intrascleral One-piece Intraocular Lens Fixation for Ectopia Lentis in Marfan Syndrome.
Journal of refractive surgery (Thorofare, N.J. : 1995)Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Molecular syndromologySurgical approach to ocular complications of Marfan syndrome.
Current opinion in ophthalmologyIdentification 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 syndromologyPredicting Actual Lens Position to Generate a Novel Intraocular Lens Power Calculation Formula for Marfan Syndrome.
Journal of refractive surgery (Thorofare, N.J. : 1995)Outcomes of Four-Point Sutured Scleral-Fixated Intraocular Lens Implantation Using Gore-Tex Suture in Paediatric Eyes.
Clinical & experimental ophthalmologyPhenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Journal of translational medicineSurgical Outcomes of Lens Removal with or Without Intraocular Lens Implantation in Marfan Syndrome: A Retrospective Cohort Study.
Clinical ophthalmology (Auckland, N.Z.)Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.
Human genome variationA de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.
Scientific reportsAssociations between childhood maltreatment, PTSD and metabolic outcomes in patients with common mental disorders at outpatient clinics in specialized care.
BMC psychiatryTrajectories of depressive symptoms, metabolic syndrome, inflammation, and cardiometabolic diseases: A longitudinal Bayesian network approach.
Brain, behavior, and immunityADAMTSL4 ectopia lentis associated with Poland syndrome: a case report.
Ophthalmic geneticsEstablishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.
International journal of medical sciencesElastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
CureusDiagnosis of congenital ectopia lentis: a case report and review of the literature.
Journal of medical case reportsCorneal characteristics in children with Marfan syndrome with or without ectopia lentis.
Pediatric investigationVisual 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 OphthalmologieThe Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.
Case reports in medicineOutcomes of intralenticular lens aspiration with glued scleral-fixated intraocular lens for ectopia lentis in Marfan syndrome.
Journal of cataract and refractive surgeryLongitudinal observation of posterior capsule opacification in pediatric eyes with Marfan syndrome after in-the-bag intraocular lens implantation.
Journal of cataract and refractive surgery[Marfan syndrome and related disorders].
Revue medicale suisseSocial Media Interventions and Postoperative Follow-Up in Congenital Ectopia Lentis: A Randomized Clinical Trial.
JAMA ophthalmologyMicrospherophakia with an atypical temporal iris coloboma in a young female.
BMJ case reportsAccuracy of Intraocular Lens Power Calculation in Microspherophakia Patients: Comparison of 7 Formulas.
Ophthalmic researchEfficacy and outcome safety of capsular tension segment combined with capsular tension ring in children with ectopia lentis.
Oman journal of ophthalmologyCorneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Investigative ophthalmology & visual scienceRefractive Alterations in Marfan Syndrome: A Narrative Review.
Medicina (Kaunas, Lithuania)Lens coloboma with bilateral ectopia lentis in Marfan syndrome: a case report.
International journal of ophthalmologyNovel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.
Journal of human geneticsDutch Validation of the Self-Evaluation of Negative Symptoms Scale (SNS).
Brain sciencesThe Etiology of Intraocular Lens Dislocation and Changes in Intraocular Pressure After Intrascleral Intraocular Lens Fixation Surgery.
CureusZonulopathies as Genetic Disorders of the Extracellular Matrix.
GenesImproving the accuracy of lens formulas for in-the-bag intraocular lens implantation in Marfan syndrome patients with ectopia lentis.
Journal of cataract and refractive surgeryDiagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic.
European journal of pediatricsSafety and efficacy of the Yamane technique for intraocular three-piece lens implantation in Egyptian patients diagnosed with Marfan syndrome: a retrospective study.
BMC ophthalmologyMagnetic Resonance Imaging of Temporomandibular Joint and Aortic Root Score in Fibrillinopathies.
Medicina (Kaunas, Lithuania)Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.
Diagnostics (Basel, Switzerland)Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.
CureusPhenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.
CureusEvaluation of the clinical features of an outpatient cohort with Marfan syndrome.
International journal of cardiologySuture dehiscence in patients with connective tissue disease: Marfan and Weill-Marchesani syndromes.
Archivos de la Sociedad Espanola de OftalmologiaSerous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.
Ophthalmic surgery, lasers & imaging retinaVisual Outcomes in Ectopia Lentis in Marfan Syndrome: A Study of Four Surgical Techniques in Children and Adults.
Medicina (Kaunas, Lithuania)Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.
Ophthalmic geneticsEctopia Lentis: Clinical profiles in a large cohort of children from a Tertiary Eye Care network in India.
Taiwan journal of ophthalmologySunrise in the eye: Bilateral superonasal lens subluxation in Marfan syndrome.
Romanian journal of ophthalmologyDiagnosis of Marfan Syndrome Following Progressive Myopia and Secondary Lens-Induced Angle Closure Crisis.
CureusZonular fibre Insertion-to-Limbus Distance (ZLD): normative data to assess lens position and diagnose ectopia lentis.
International ophthalmologyGenotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome.
Ophthalmology scienceUncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study.
CureusGenotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
GeneAnterior scleral thickness in Marfan syndrome: A quantitative analysis.
Acta ophthalmologicaAutosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.
Ophthalmic researchMitral annular disjunction and its progression during childhood in Marfan syndrome.
European heart journal. Cardiovascular ImagingFamilial Ectopia Lentis: Looking Beyond Marfan's Syndrome.
The Journal of the Association of Physicians of IndiaNON-TRAUMATIC ECTOPIA LENTIS IN A PAEDIATRIC OPHTHALMOLOGY PRACTICE, IBADAN, NIGERIA.
Annals of Ibadan postgraduate medicineGenotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.
European journal of pediatricsLong-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 StrabismusA Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report.
CureusInfluencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis.
The British journal of ophthalmologyAn adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genetics and molecular biologyPredicting Marfan Syndrome in Children With Congenital Ectopia Lentis: Development and Validation of a Nomogram.
Translational vision science & technologyHigh persistence and low treatment rates of metabolic syndrome in patients with mood and anxiety disorders: A naturalistic follow-up study.
Journal of affective disorders[Structural and functional features of the eye in Marfan syndrome. Report 2. Changes in the anatomical complex of the lens].
Vestnik oftalmologii[Structural and functional features of the eye in Marfan syndrome. Report 1. Changes in the fibrous tunic of the eye].
Vestnik oftalmologiiSafety 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 surgeryThe role of genetic testing in Marfan syndrome.
Current opinion in cardiologyBiometric and corneal characteristics in marfan syndrome with ectopia lentis.
Journal francais d'ophtalmologieLongitudinal changes of refractive error in preschool children with congenital ectopia lentis.
International ophthalmologyCongenital anomalies of lens shape.
Taiwan journal of ophthalmologyOvercoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
Journal of clinical laboratory analysisTraboulsi syndrome: A case report.
Asian journal of surgeryA novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature.
Journal of medical case reportsUncovering the Hidden World of Aqueous Humor Proteins for Discovery of Biomarkers for Marfan Syndrome.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Unilateral Congenital Lenticular Pigmentation.
Case reports in ophthalmologyGenotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.
BMC pediatricsClinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.
Health science reportsLong-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 StressPostoperative longitudinal refractive changes in children younger than 8 years with ectopia lentis and Marfan syndrome.
Journal of cataract and refractive surgeryWeill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Journal of medical geneticsIncidence 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 StrabismusMicrospherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report.
The application of clinical genetics[Endocapsular fixation of intraocular lens in patients with ectopia lentis and Marfan syndrome (case study)].
Vestnik oftalmologiiDiverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.
Oman journal of ophthalmologyEyes and the heart: what a clinician should know.
Heart (British Cardiac Society)Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Experimental eye researchCardiovascular risk assessment methods yield unequal risk predictions: a large cross-sectional study in psychiatric secondary care outpatients.
BMC psychiatryOcular, 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 OphthalmologieMarfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.
Diagnostics (Basel, Switzerland)Bilateral Anteriorly Displaced Microspherophakia in a Female Child With Marfanoid Habitus.
CureusTraboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.
Ophthalmic geneticsParental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
European journal of medical geneticsThe Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
GenesConsensus recommendations on mental health issues in Phelan-McDermid syndrome.
European journal of medical geneticsMarfan Syndrome Incorrectly Diagnosed as Autism.
PediatricsOcular Involvement and Treatment Pattern in Korean Patients with Marfan Syndrome: A Population-Based Study.
Ophthalmic epidemiologyConsensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
European journal of medical geneticsWhat Should We Pay More Attention to Marfan Syndrome Expecting Ectopia Lentis: Incidence and Risk Factors of Retinal Manifestations.
Journal of personalized medicineConsensus recommendations on sleeping problems in Phelan-McDermid syndrome.
European journal of medical geneticsMorphometric Assessment of the Ciliary Body in Patients With Marfan Syndrome and Ectopia Lentis: A Quantitative Study Using Ultrasound Biomicroscopy.
American journal of ophthalmology[Hereditary ectopia lentis: diagnosis and surgical treatment].
Vestnik oftalmologiiPredicting axial length in patients with Marfan syndrome and ectopia lentis after modified capsular tension ring and intraocular lens implantation.
Journal of cataract and refractive surgeryDe Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
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Frontiers in medicineClinical and genetic findings in Chinese families with congenital ectopia lentis.
Molecular genetics & genomic medicineNovel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.
Frontiers in medicineHTAD 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 geneticsEpidemiology of ectopia lentis and outcomes after surgery in a Danish population.
Journal of cataract and refractive surgeryOutcomes of Iris-Claw IOL Implantation in Patients with Marfan's Syndrome in Jordan.
Clinical ophthalmology (Auckland, N.Z.)Personality traits and coping strategies in recent-onset psychosis: Associations with symptom severity and psychosocial functioning.
Schizophrenia researchCardiac Complications in Marfan Syndrome: A Review.
CureusCongenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.
Progress in retinal and eye researchEarly 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 geneticsLate onset sclerotomy dehiscence in a patient with Marfan syndrome presenting as recurrent episodes of raised intraocular pressure.
BMJ case reports[Ocular manifestations of Marfan syndrome].
Vestnik oftalmologiiTraboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
European journal of medical geneticsA 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 chihOutcomes of surgical intervention in cases of ectopia lentis.
Indian journal of ophthalmologySteinberg sign and ectopia lentis: Marfan syndrome.
QJM : monthly journal of the Association of PhysiciansExome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
GenesUnderstanding Behavior in Phelan-McDermid Syndrome.
Frontiers in psychiatryAutism 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 psychiatryNext-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.
International ophthalmologyOutcomes of Transscleral Two-Point Fixation Versus Closed Continuous-Loop Four-Point Fixation of Intraocular Lens in Subluxated Lens Secondary to Marfan Syndrome.
Ophthalmology and therapyEctopia lentis surgery in Marfan's syndrome: from "couching" to the use of intracapsular tension rings.
Romanian journal of ophthalmologyMyopia in the Diagnosis of Marfan Syndrome: An Important Early Sign of a Systemic Condition.
CureusSimultaneous 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 AugenheilkundeLate internalized double-flanged polypropylene with canabrava technique in patient with marfan syndrome.
European journal of ophthalmologyMechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Case reports in geneticsADAMTS18 regulates early branching morphogenesis of lacrimal gland and has a significant association with the risk of dry eye in mice.
Experimental eye researchCysteine 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 biologyClinical profile and outcome of ocular manifestation in Marfans syndrome in India.
Indian journal of ophthalmologyIntraocular 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 StrabismusMolecular 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 GeneticsRetrospective 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 ophthalmologyAnalysis of Corneal Spherical Aberrations in Chinese Bilateral Ectopia Lentis Patients.
Frontiers in medicinePrimary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation.
BMC ophthalmologyCombination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.
American journal of ophthalmologyThe Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies.
Heart failure clinicsMarfan syndrome and the eye clinic: from diagnosis to management.
Therapeutic advances in rare diseaseThe 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 counselingGlycyrrhizic Acid Inhibits SARS-CoV-2 Infection by Blocking Spike Protein-Mediated Cell Attachment.
Molecules (Basel, Switzerland)Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2.
GenesAdapted Bag-in-the-Lens Implantation Technique in Children with Congenital Ectopia Lentis.
Klinische Monatsblatter fur AugenheilkundeSatisfaction with social connectedness as a predictor for positive and negative symptoms of psychosis: A PHAMOUS study.
Schizophrenia researchCombining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.
Annals of palliative medicineCorrelation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.
Human mutationControversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue.
Journal of clinical medicineScheimpflug-Based Analysis of the Reflectivity of the Cornea in Marfan Syndrome.
Translational vision science & technologyEvaluation of axial length/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan's syndrome in children.
International journal of ophthalmologyFibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
The British journal of ophthalmologySutureless Scleral-Fixated Intraocular Lens Implantation in the Treatment of Congenital Lens Subluxation Related to Marfan Syndrome.
Journal of pediatric ophthalmology and strabismusLong-Term Suture Breakage After Scleral Fixation of a Modified Capsular Tension Ring with Polypropylene 10-0 Suture.
Clinical ophthalmology (Auckland, N.Z.)Persistent anterior tunica vasculosa lentis in multisystemic smooth muscle dysfunction syndrome: A case report.
MedicineComparison of retropupillary fixated iris claw lens versus sclera fixated lens for correction of pediatric aphakia secondary to ectopia lentis.
Oman journal of ophthalmologyClinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System.
Translational vision science & technologyWeill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
The American journal of case reportsAnalysis of Axial Length in Young Patients with Marfan Syndrome and Bilateral Ectopia Lentis by Z-Scores.
Ophthalmic researchExpanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
Ophthalmic geneticsA Pedigree Report of a Rare Case of Weill-Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations.
Risk management and healthcare policyOn the relation of white matter brain abnormalities and the asociality symptoms in schizophrenia outpatients - a DTI study.
Acta neurobiologiae experimentalisSurgical outcomes of modified capsular tension ring and intraocular lens implantation in Marfan syndrome with ectopia lentis.
European journal of ophthalmologyMarfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4-related arteriopathy.
American journal of medical genetics. Part AMutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.
Experimental eye researchReport of a Cluster of Cases of Toxic Anterior-segment Syndrome After Implantation of a Specific Intraocular Lens Model.
American journal of ophthalmologyAlveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
European journal of medical geneticsClinical 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 GeneticsEye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.
Case reports in geneticsSevere neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.
MedicineGenotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Molecular medicine reportsBinocular 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 motilityOutcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome.
European journal of ophthalmologyThe psychometric validity of the Montgomery-Åsberg Depression Rating Scale (MADRS) in recent onset schizophrenia spectrum disorders.
Schizophrenia researchVisual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome.
Scientific reportsThe mgΔlpn mouse model for Marfan syndrome recapitulates the ocular phenotypes of the disease.
Experimental eye researchInsight does not come at random: Individual gray matter networks relate to clinical and cognitive insight in schizophrenia.
Progress in neuro-psychopharmacology & biological psychiatryDifferential diagnosis of Marfan syndrome based on ocular biologic parameters.
Annals of translational medicineA novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
Ophthalmic geneticsWhole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.
Molecular genetics & genomic medicineGenotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Clinical geneticsSecondary 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 StrabismusDevelopment, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Journal of intellectual disability research : JIDRA genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Genetics in medicine : official journal of the American College of Medical GeneticsBilateral ectopia lentis in opposite quadrants in a child with Marfan syndrome.
Indian journal of ophthalmologyWhen 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 medicineOcular Manifestations and Biometrics in Marfan's Syndrome from Eastern Nepal.
Clinical ophthalmology (Auckland, N.Z.)Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report.
Case reports in ophthalmologySurgical management of non-syndromic ectopia lentis.
International journal of ophthalmologyGenotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
GenesA novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
Scientific reportsAssociações
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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.
- ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
- Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.
- 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
- A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.
- Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
- Abduction-Release Sign in Heavy Eye Syndrome.
- Anti-GQ1b-Positive Miller Fisher Syndrome Following Pfizer Bivalent COVID-19 Vaccination.
- A review of chronic enterocolitis of rhesus macaques (Macaca mulatta) and potential as a naturally occurring model for post-infectious irritable bowel syndrome.
- Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family.
- Potential mechanisms of the glucocorticoid withdrawal syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1259(Orphanet)
- OMIM OMIM:110150(OMIM)
- MONDO:0007202(MONDO)
- GARD:912(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
