Síndrome autossômica recessiva caracterizada por contraturas articulares, anormalidades esqueléticas, anomalias do segmento anterior do olho e letalidade precoce.
Introdução
O que você precisa saber de cara
Síndrome autossômica recessiva caracterizada por contraturas articulares, anormalidades esqueléticas, anomalias do segmento anterior do olho e letalidade precoce.
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 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
Genes associados
1 gene identificado com associação a esta condição.
Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with terminal glucosamine or galactosamine residues
Golgi apparatus, Golgi stack membrane
Ehlers-Danlos syndrome, spondylodysplastic type, 2
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.
Variantes genéticas (ClinVar)
232 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
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 anomalias oculares-aracnodactilia-cardiopatia
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de anomalias oculares-aracnodactilia-cardiopatia
Centros para Síndrome de anomalias oculares-aracnodactilia-cardiopatia
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.
Ocular surface microbiota (OSM) dysbiosis is associated with dry eye disease (DED), but the underlying mechanisms remain poorly understood. This study investigated the role of lipoteichoic acid (LTA), a Gram-positive bacterial product, in DED pathogenesis. A cross-sectional study was conducted involving 277 participants to analyze OSM composition via 16S rRNA sequencing and quantify tear LTA levels. In vitro experiments using human corneal epithelial cells (HCE-T) and in vivo mouse models were used to explore LTA-induced inflammation. The involvement of Toll-like receptor 2 (TLR2) and platelet-activating factor receptor (PAFR) was assessed using siRNAs and the PAFR antagonist Apafant. Patients with DED showed functional enrichment in LTA synthesis-related pathways in their OSM. Tear LTA levels were significantly elevated in patients with DED and correlated positively with disease risk and clinical severity. Mechanistically, LTA activated p38 MAPK and NF-κB signaling pathways via TLR2 and PAFR, upregulating pro-inflammatory cytokine expression. In mice, topical LTA administration induced corneal epithelial damage, reduced tear secretion, and caused histopathological changes. Treatment with Apafant significantly alleviated LTA-induced corneal inflammation, improved tear secretion, and preserved epithelial integrity. Our findings establish a mechanistic link between OSM-derived LTA and DED. LTA promotes ocular surface inflammation and dysfunction through TLR2 and PAFR signaling, suggesting that targeting microbial products or their receptors, such as PAFR, may offer a novel therapeutic strategy for DED.
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene's developmental role using vertebrate models. 53 individuals with biallelic DIAPH1 variants, including 33 previously unreported patients were studied. Clinical features were analysed and functional studies were conducted using knockout models in Danio rerio and Xenopus tropicalis. Clinical features included developmental delay, intellectual disability, progressive microcephaly, cortical visual impairment or blindness, epilepsy, and frequent occipital-predominant brain abnormalities. Almost half suffered from infections, mainly affecting their respiratory tract related to epilepsy and aspiration. Although the majority had normal lymphocyte subsets and serum immunoglobulins, T-cell receptor excision circles and naïve T-lymphocyte counts were consistently low. The Xenopus model mirrored growth and eye defects seen in humans, while zebrafish exhibited no overt malformations but showed seizure-like behaviour in Phenothiazine assays. DIAPH1 is critical for neurodevelopment, immune regulation, and DNA repair. The DNA repair defect may influence susceptibility to infection, lymphoma, or treatment-related toxicity. Although absolute T-cell numbers are not consistent with SCID, impaired T-cell maturation suggests these patients could be identified by TREC newborn screening before neurological symptoms develop.
Prevalence and influencing factors of dry eye syndrome among pilots: A survey study.
Dry eye syndrome (DES) is a prevalent ocular condition that significantly impacts affected individuals' quality of life and occupational performance. This study investigates the prevalence and contributing factors of DES among pilots, which is a group particularly susceptible to environmental and occupational stressors. A descriptive, observational study was conducted, which involved 794 pilots. Based on the severity of DES, these pilots were assigned into mild, moderate and severe groups. Data was collected through surveys, and analyzed using multiple linear regression, in order to determine the relationship between the DES scores and potential influencing factors. The study revealed that all pilots included in the present study were affected by DES, in which 88.40% of pilots experienced moderate DES and 11.60% of pilots reported severe DES. After adjusting for other covariates in the model, the multivariate analysis revealed that eyelid diseases, ocular surface disease, poor sleep quality, and fatigue were statistically significant and positively correlated to higher DES scores (p < 0.05), while residing in the southern region and engaging in physical activities were statistically significant and negatively correlated to the DES scores (p < 0.05). The high prevalence of DES in pilots highlights the urgent need for tailored occupational health interventions. Strategies to mitigate DES risk should include promoting regular physical exercise, improving sleep quality, and addressing fatigue. Future research should prioritize longitudinal studies to establish causal relationships and develop targeted management approaches for this high-risk occupational group.
Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.
Congenital Zika syndrome (CZS) represents a spectrum of fetal and neonatal abnormalities resulting from in utero Zika virus (ZIKV) transmission during pregnancy. Given the severe multisystem disabilities, relative recency of the epidemic and limited long-term data, comprehensive characterization at specialized centres is crucial. This study aimed to examine clinical symptoms, brain imaging and brain activity (video electroencephalography, VEEG) patterns in children with CZS receiving care at a specialized rehabilitation centre. We conducted a cross-sectional study from August 2018 to January 2019 with 48 children diagnosed with CZS according to the Brazilian Ministry of Health criteria. We collected clinical data from electronic medical records. The most common clinical problems included bladder and bowel incontinence (97.9%), epilepsy (85.5%), facial abnormalities (89%), swallowing difficulties (83.3%), excessive irritability (81.3%), eye misalignment (75%), sleep problems (72.9%), acid reflux (62.0%) and vision problems (62.5%). Brain imaging revealed reduced brain tissue volume (95.8%), abnormal corpus callosum (91.1%), enlarged fluid-filled spaces in the brain (89.5%), calcium deposits at the brain's outer layers (78.3%) and abnormally thick brain folds (71.1%). We found significant links between bone/muscle malformations and both white matter disease (p = 0.036) and enlarged brain ventricles (p = 0.031). Children with CZS consistently show motor difficulties, multiple clinical problems and characteristic brain abnormalities. These findings predict significant limitations in daily activities, movement and cognitive-social development.
Ocular motor and vestibular examination in the unconscious patient-standard of care.
Eye movements play an essential role in the assessment of the unconscious patient and offer a window to the function of the brain. We review the range of ocular motor and vestibular findings in patients with impaired consciousness and present a practical approach to these patients. Based on a structured review of the literature (Pubmed, Embase) 54 suitable citations were identified amongst 4,241 total citations. A manual search of the reference list of selected papers added another 57 papers. Based on these publications the spectrum of eye movement abnormalities in the unconscious patient was characterized. The pattern of eye movement abnormalities seen in the unconscious patient depends on the underlying cause and the extent/location of brain damage. Conjugate eye deviations may be observed with either supratentorial or infratentorial lesions, while disconjugate deviations may indicate superimposed eye muscle palsies or decompensated strabismus. The presence of a full range of spontaneous horizontal, oscillatory eye movements (e.g., ping-pong gaze) in the comatose patient usually indicates bilateral cerebral hemisphere dysfunction. With vertical spontaneous eye movements, the identification of a slower and faster phase helps to distinguish between nystagmus and ocular bobbing and its variants. Combined with absent reflexively-induced eye movements, typical ocular bobbing strongly suggests a structural pontine lesion, whereas other vertical spontaneous eye movement patterns do not predict specific (focal) damage. The reflexive eye movements, i.e., the vestibulo-ocular reflex (VOR), can be assessed in comatose patients either by head rotations, caloric irrigation or galvanic stimulation. Intact slow-phase responses indicate relatively preserved brainstem function and inability to keep the eyes in an eccentric position suggest a deficient velocity-to-position integrator either from brainstem or cerebellar involvement. Ocular motor and vestibular testing in unconscious patients offer a unique opportunity to assess both brainstem and cerebellar function and its interplay with higher cortical areas. It may also help predict outcome. Challenges to overcome include a lack of standardized diagnostic approaches to unconscious patients. Quantitative eye movement analysis, based on videooculography (VOG) and artificial intelligence using large multimodal data sets are promising new tools for diagnosis, longitudinal observational studies and prediction of outcome.
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Hypersensitivity pneumonitis.
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Frontiers in immunologyDifferent Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report.
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Annals of the rheumatic diseases[Management of ocular adverse events associated with antibody-drug conjugates in the treatment of solid tumors: a consensus statement from Chinese experts (2025 edition)].
Zhonghua zhong liu za zhi [Chinese journal of oncology]Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
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Retina (Philadelphia, Pa.)Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.
Investigative ophthalmology & visual scienceBuilding the Optometry Workforce in Somalia: A Strategic Approach to Preventing Avoidable Blindness and Expanding Access to Vision Care.
Clinical optometrySleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.
CureusASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.
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Ophthalmology and therapyPerfluorohexyloctane eye drops in treating dry eye disease associated with meibomian gland dysfunction: a post hoc analysis by baseline severity.
International ophthalmologyAn unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
European journal of ophthalmologyA Case Report and Review of an Atypical Presentation in the Oldest Documented Patient With Susac Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyCongenital Optic Nerve Anomalies and Associated Systemic Conditions.
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Frontiers in immunologyCandidate Genes for Non-Syndromic Pediatric Cataracts.
Clinical ophthalmology (Auckland, N.Z.)A professional training simulator for skill acquisition in ultrasound-guided lumbar facet syndrome intervention: design and educational evaluation.
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Japanese journal of ophthalmologyArgon laser demarcation of AIDS-related cytomegalovirus retinitis in resource-limited setting.
International ophthalmologyUpdate on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.
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GMS ophthalmology cases[Determination of vitamin A and vitamin E in human tear by liquid chromatography-tandem mass spectrometry and analysis of their relationship with dry eye].
Se pu = Chinese journal of chromatographyRetinal vasoproliferative tumors in pediatric retinal dystrophies.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusTherapeutic efficacy and safety of a multi-wavelength LED irradiation device in a rat model of meibomian gland dysfunction.
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Arquivos brasileiros de oftalmologiaQuantitative assessment of tear film function and meibomian gland morphology in newly diagnosed atopic dermatitis.
Arquivos brasileiros de oftalmologiaEvaluation of autonomic dysfunction with dynamic pupillometry in non-obese young women with polycystic ovary syndrome.
Arquivos brasileiros de oftalmologiaThe role of meibomian gland morphological alterations in the development of dry eye disease in type 2 diabetes.
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CureusCongenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.
CureusA Rare Case of Secondary Angle Closure Glaucoma Due to Soemmering's Ring in a Pseudophakic Eye: The Role of Ultrasound Biomicroscopy.
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Ophthalmic geneticsTrue exfoliation syndrome.
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BMJ openHybrid nanogel system of quercetin-loaded squalene NLCs with zinc-HA network for dry eye syndrome.
International journal of biological macromoleculesCorneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.
International ophthalmologyAnterior segment, static and dynamic pupillography changes in patients using different types of alpha-1 blockers.
Documenta ophthalmologica. Advances in ophthalmologyDigital Eye Syndrome Among Tertiary Institution Students in the Post-Covid Era: A Cross-Sectional Study.
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International journal of medical sciencesPredictive value of biochemical markers CRP, WBC, and total cholesterol for postoperative dry eye syndrome following phacoemulsification cataract surgery.
Journal of medical biochemistryOcular social jetlag: a driver of immune-metabolic dysfunction in dry eye disease.
Frontiers in immunologyIsolated Sixth Cranial Nerve Palsy as the First Presenting Sign of MOG Antibody-Associated Disease in a Three-Year-Old Child.
The British and Irish orthoptic journalSevere Headache and Acute Blindness: A Case of Pituitary Apoplexy.
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Current medical scienceSimultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.
International ophthalmology[Epidemiology and manifestations of Sjögren's disease].
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JNMA; journal of the Nepal Medical AssociationRoutine Blood and Cerebrospinal Fluid Markers in Newly Diagnosed Idiopathic Intracranial Hypertension: An Exploratory Case-Control Study.
Eye and brainA theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.
Acta oto-laryngologicaNear-Constant Asymmetric Oculomotor Apraxia in an Infant with Joubert Syndrome Spectrum Disorder.
Movement disorders clinical practiceAssociation between cardiovascular-kidney-metabolic syndrome stages and risk of all-cause mortality in U.S. adults: a cross-sectional survey based on NHANES.
BMC cardiovascular disordersUveitis as a Disguise - Masquerade Syndromes in the Modern Era.
Ocular immunology and inflammationMagnetic resonance imaging-based detection of retinal hemorrhages in a multicenter cohort of abusive head trauma.
Pediatric radiologyRelentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.
American journal of ophthalmology case reportsA case of absent inferior rectus muscle: remedy procedure and considerations of pre- and post-operation.
American journal of ophthalmology case reportsOcular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.
American journal of ophthalmology case reportsA Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.
Journal of vitreoretinal diseasesSpontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report.
BMC ophthalmologyNon-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.
European journal of human genetics : EJHGTherapeutic effects of Chelidonium majus on ocular surface ınflammation and tear film homeostasis in a benzalkonium chloride-ınduced rat model of dry eye disease.
International ophthalmologyOphthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.
The Journal of craniofacial surgeryLeft-Right Determination Factor 2 (LEFTY2) Is an Aqueous Humor Biomarker for Exfoliation Glaucoma.
Translational vision science & technologyCL-EVLPs Promote Corneal Repair in a BAC-Induced Corneal Injury Model via Ocular Microenvironment Reconstruction.
Investigative ophthalmology & visual scienceCross-linked carboxymethyl cellulose and silk proteins for dry eye disease management and corneal wound healing: in vivo and in vitro results.
European review for medical and pharmacological sciencesBilateral Diffuse Uveal Melanocytic Proliferation Masquerading as Refractory Subretinal Fluid Due to Peripapillary Pachychoroid Syndrome.
CureusSpectrum of non-ischemic oculomotor nerve palsies at a tertiary care centre - case series and literature review.
Strabismus"Pediatric Brown syndrome in the setting of hypercholesterolemia: case report of a possible new association".
StrabismusOptical coherence tomography findings in multiple system atrophy: insights into disease diagnosis, clinical correlations, and dopaminergic degeneration.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEye movements as indicators of awareness in prolonged disorders of consciousness: a scoping review of behavioral and neural evidence.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHermansky-Pudlak Syndrome.
Eye (London, England)Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneCorrelation between ocular surface characteristics and tear lymphotoxin-alpha in patients with type 2 diabetes mellitus of different courses.
International ophthalmologyCentral Serous Chorioretinopathy in Parallel With Onset and Relapses of Minimal Change Nephrotic Syndrome: A 28-Year Case Follow-Up.
CureusAxenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report.
JNMA; journal of the Nepal Medical AssociationCataract surgery outcomes in pseudoexfoliation syndrome: a large multicenter database study.
Frontiers in ophthalmologyMultifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.
Kidney medicineAcupuncture combined with auricular acupressure for dry eye: a SPIRIT-guided protocol for a multicenter randomized controlled trial.
Frontiers in medicineA Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.
Clinical case reportsA novel murine model of Sjögren's disease using lacrimal autoantigen.
Frontiers in immunologyBilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
Veterinary ophthalmology[Neovascular complications of choroidal osteoma: Diagnosis and treatment].
Journal francais d'ophtalmologieGeneration of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Stem cell researchLandscaping evidence on first-line therapies for infantile epileptic spasms syndrome: An umbrella review.
Epilepsy researchVisual search patterns in Unilateral Spatial Neglect: A review of eye-tracking evidence.
Behavioural brain researchElectroacupuncture Facilitates the Regulation of Inflammation in the Conjunctiva of Rabbits With Dry Eye Syndrome via the α7nAChR-HMGB1 Signaling Pathway.
Frontiers in bioscience (Landmark edition)Refractive Changes Associated With Pediatric Kidney Transplantation.
Pediatric transplantationAdvances and Challenges in Sulcus-Implanted Intraocular Lenses: A Comprehensive Narrative Review.
Ophthalmology and therapyComparison of Tear Function in Patients With and Without Mental Disorders: A Systematic Review and Meta-analysis.
Biomedical journalOrigin, diagnosis and treatment of periocular Histiocytic disorders- state-of-the-art review.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieAdvances in the Diagnosis and Treatment of Obstructive Sleep Apnea in Women.
Pulmonary therapyLy93 Inhibits Sphingomyelin Synthesis and Attenuates Inflammation and Injury in Dry Eye Conjunctival Organoids.
Investigative ophthalmology & visual scienceThe impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome.
bioRxiv : the preprint server for biologyIntegrated Bioinformatics Analysis of a TF-miRNA-mRNA Regulatory Network in Retinal Vein Occlusion with Metabolic Syndrome and its Association with Clinical Predictors.
Current eye researchVaricella-Zoster Virus and the Eye: Clinical Spectrum, Management, and Vaccination.
Pathogens (Basel, Switzerland)Alterations in the Crystallization Pattern of Tear Fluid Induced by Increases in the Body Mass Index.
Life (Basel, Switzerland)Tear-Based Oxidative Stress Biomarkers in Primary and Sarcoidosis-Associated Dry Eye Disease.
International journal of molecular sciencesSleep-Disordered Breathing in Chung-Jansen Syndrome.
International journal of molecular sciencesNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
International journal of molecular sciencesOcular Symptoms as a Marker of Dysautonomia in Long-COVID Patients: A Cross-Sectional Analysis.
Brain sciencesDisrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model.
Nature communicationsStudy protocol for a randomised controlled trial to evaluate the prophylactic efficacy of combined intense pulsed light (IPL) and low-level light therapy (LLLT) in preventing laser corneal refractive surgery-induced dry eye: the Treat Eye Before Laser induced Dry (TEBeLiD) study.
BMJ openMetastatic Intraocular Tumor Likely from Hepatocellular Carcinoma Mimicking Panuveitis.
Acta medica OkayamaDefining Discordance Between Signs and Symptoms in Dry Eye Disease: Insights From the DRy Eye Assessment and Management (DREAM) Study.
American journal of ophthalmologyThe eye as a diagnostic key: the ophthalmologist's role in an atypical case of Miller Fisher Syndrome.
Archivos de la Sociedad Espanola de OftalmologiaThe link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.
Experimental eye researchSplicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
JCI insightMetabolic Syndrome Predisposes Ossabaw Minipig Retina to an Early Neurodegenerative Milieu.
Cells[Effects of thumbtack needle therapy for Yangxin Shengyang on ocular blood flow parameters in treatment of low myopia in children with heart yang insufficiency].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionFortified Long-acting Ocular Gel Laden with Nanoformulated Dexamethasone for Dry Eye Therapy.
AAPS PharmSciTechThe effects of elevated CO2 on brain and ocular signal intensity with intravenous contrast MRI.
Journal of neurophysiologyClinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.
Immunity, inflammation and diseaseAssessment of Dry Eye Disease Symptoms in Health Science University Students: A Combined Approach Using CVS-Q and Schirmer Tear Test to Evaluate the Influence of Digital Devices.
Clinical optometryFeasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Eye (London, England)A transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.
Experimental & molecular medicineRetinal BioAge is associated with indicators of cardiovascular-kidney-metabolic syndrome in UK and US populations.
Scientific reportsGlobal prevalence of dry Eye: A systematic review and meta-analysis.
Contact lens & anterior eye : the journal of the British Contact Lens AssociationGreen vessel signal on multicolor imaging as an early sign of ischemic vasculitis in IRVAN Syndrome: A case report.
American journal of ophthalmology case reportsPrevalence and predictors of dry eye syndrome among the young population in Jordan: A cross-sectional survey study.
MedicineShort-term efficacy of intense pulsed light in the treatment of hordeolum: A prospective cohort study.
MedicineA case of MEWDS like retinopathy associated with peripheral exudative haemorrhagic chorioretinopathy: Un caso de síndrome de múltiples puntos blancos evanescentes (SMPBE) secundario a coriorretinopatía hemorrágica exudativa periférica.
Archivos de la Sociedad Espanola de OftalmologiaLacrimal gland spheroids in tissue specific hydrogel for dry eye modelling.
The ocular surfaceAssessing facial asymmetry before and after early treatment of abnormal head posture caused by ocular problems.
Clinical & experimental optometryThe floppy thyroid eye disease.
International ophthalmologyVKH-Like Syndrome in a Patient on Tofacitinib.
Journal of vitreoretinal diseasesStridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
Clinical medicine insights. PediatricsComparison of individuals with radiologically isolated syndrome, early multiple sclerosis patients, and healthy controls using a digital neurological examination.
Multiple sclerosis (Houndmills, Basingstoke, England)Proanthocyanidins inhibit the inflammation response of dry eye by regulating IRAK4/JAK1/STAT1 signaling pathway.
Experimental eye researchComplications after radiotherapy in patients with Graves' orbitopathy: A nationwide cohort study.
Eye (London, England)Ophthalmic screening in down syndrome: A DSMIG UK Best practice recommendation (Revised 2025).
Eye (London, England)Associações
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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.
- Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.
- Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41860019mais citado
- Prevalence and influencing factors of dry eye syndrome among pilots: A survey study.
- Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience· 2026· PMID 41839214mais citado
- Ocular motor and vestibular examination in the unconscious patient-standard of care.
- New insight into the features of Behçet's disease with gastrointestinal ulcer: a cross-sectional observational study.
- Hypersensitivity pneumonitis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2725(Orphanet)
- OMIM OMIM:609465(OMIM)
- MONDO:0012282(MONDO)
- GARD:10054(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar