Raras
Buscar doenças, sintomas, genes...
Síndrome de anomalias oculares-aracnodactilia-cardiopatia

Síndrome autossômica recessiva caracterizada por contraturas articulares, anormalidades esqueléticas, anomalias do segmento anterior do olho e letalidade precoce.

Mantido por Agente Raras·Colaborar como especialista →

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.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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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

🦴
Ossos e articulações
4 sintomas
😀
Face
3 sintomas
📏
Crescimento
2 sintomas
🫁
Pulmão
1 sintomas
👁️
Olhos
1 sintomas
💪
Músculos
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

100%prev.
Fraturas recorrentes
Obrigatório (100%)
100%prev.
Micrognatia
Obrigatório (100%)
100%prev.
Úmero arqueado
Obrigatório (100%)
100%prev.
Falange distal do dedo larga
Obrigatório (100%)
100%prev.
Alimentação por sonda gastrojejunal na infância
Obrigatório (100%)
100%prev.
Déficit de crescimento
Obrigatório (100%)
17sintomas
Muito frequente (16)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.

Fraturas recorrentesRecurrent fractures
Obrigatório (100%)100%
MicrognatiaMicrognathia
Obrigatório (100%)100%
Úmero arqueadoBowed humerus
Obrigatório (100%)100%
Falange distal do dedo largaBroad distal phalanx of finger
Obrigatório (100%)100%
Alimentação por sonda gastrojejunal na infânciaGastrojejunal tube feeding in infancy
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026192 papers
Linha do tempo
2025Hoje · 2026🧪 2000Primeiro ensaio clínico
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

Genes associados

1 gene identificado com associação a esta condição.

B3GALT6Beta-1,3-galactosyltransferase 6Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Golgi apparatus, Golgi stack membrane

VIAS BIOLÓGICAS (1)
Glycosaminoglycan-protein linkage region biosynthesis
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (3)
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEhlers-Danlos syndrome, spondylodysplastic type, 2Al-Gazali syndrome
HGNC:17978UniProt:Q96L58

Variantes genéticas (ClinVar)

232 variantes patogênicas registradas no ClinVar.

🧬 B3GALT6: NM_080605.4(B3GALT6):c.2T>G (p.Met1Arg) ()
🧬 B3GALT6: NM_080605.4(B3GALT6):c.577A>T (p.Lys193Ter) ()
🧬 B3GALT6: NM_080605.4(B3GALT6):c.197_253del (p.Ala66_Arg84del) ()
🧬 B3GALT6: NM_080605.4(B3GALT6):c.117dup (p.Arg40fs) ()
🧬 B3GALT6: NM_080605.4(B3GALT6):c.251_257del (p.Arg84fs) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.

Investigative ophthalmology & visual science2026 Mar 02

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.

#2

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 Genetics2026 Mar 16

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.

#3

Prevalence and influencing factors of dry eye syndrome among pilots: A survey study.

PloS one2026

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.

#4

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 Neuroscience2026 Apr

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.

#5

Ocular motor and vestibular examination in the unconscious patient-standard of care.

Frontiers in neurology2026

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 197

2026

SARS-CoV-2 spike S1-mediated HIF-2α activation in retinal endothelial cells suggests a mechanism contributing to post-COVID endothelial dysfunction.

Frontiers in immunology
2026

Different Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report.

Journal of binocular vision and ocular motility
2026

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.

NPJ genomic medicine
2026

EULAR recommendations for the management of Behçet's syndrome: 2025 update.

Annals of the rheumatic diseases
2026

[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]
2026

Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.

The Journal of craniofacial surgery
2026

CHARACTERIZING INTRAOCULAR LENS POSITION, STABILITY, AND IRIS MOBILITY IN EYES THAT HAVE UNDERGONE SUTURELESS INTRASCLERAL HAPTIC FIXATION.

Retina (Philadelphia, Pa.)
2026

Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.

Investigative ophthalmology &amp; visual science
2026

Building the Optometry Workforce in Somalia: A Strategic Approach to Preventing Avoidable Blindness and Expanding Access to Vision Care.

Clinical optometry
2026

Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome.

Cureus
2026

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

Ophthalmic genetics
2026

VEXAS syndrome in adults: A narrative review of genomic pathogenesis, multisystem phenotypes, diagnostic algorithms, and emerging therapeutic strategies.

Autoimmunity reviews
2026

Mucus Fishing Syndrome: Case Series and a Narrative Review of Literature.

Ophthalmology and therapy
2026

Perfluorohexyloctane eye drops in treating dry eye disease associated with meibomian gland dysfunction: a post hoc analysis by baseline severity.

International ophthalmology
2026

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.

European journal of ophthalmology
2026

A 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 Society
2026

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics
2026

Spatial transcriptomic profiling identifies lacrimal-gland-epithelial cell-driven mechanisms underlying autoimmunity in Sjögren's disease.

Frontiers in immunology
2026

Candidate Genes for Non-Syndromic Pediatric Cataracts.

Clinical ophthalmology (Auckland, N.Z.)
2026

A professional training simulator for skill acquisition in ultrasound-guided lumbar facet syndrome intervention: design and educational evaluation.

Frontiers in digital health
2025

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

Molecular vision
2025

Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.

Molecular vision
2026

Case Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.

Frontiers in ophthalmology
2026

Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.

Molecular neurobiology
2026

Retrospective study of photodynamic therapy for the GNA-Related Capillary Malformation spectrum of pediatric patients.

Photodiagnosis and photodynamic therapy
2026

Laser peripheral iridotomy for treating recurrent uveitis-glaucoma-hyphema plus syndrome with a scleral fixed intraocular lens: a case report.

BMC ophthalmology
2026

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

Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies.

Journal of medical genetics
2026

Ultra-widefield indocyanine green angiography findings of vortex veins in central serous chorioretinopathy.

Japanese journal of ophthalmology
2026

Argon laser demarcation of AIDS-related cytomegalovirus retinitis in resource-limited setting.

International ophthalmology
2026

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Kidney international reports
2026

Effects of Ketogenic Diet (KD) on Metabolic, Endocrine, and Reproductive Outcomes in Overweight/Obese Women With Polycystic Ovary Syndrome (PCOS): A Systematic Review.

Cureus
2026

Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

Frontiers in ophthalmology
2026

Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.

American journal of ophthalmology case reports
2026

Tislelizumab-induced Vogt-Koyanagi-Harada-like uveitis: a case report.

BMC ophthalmology
2026

CXCL13/CXCR5 chemokine axis promotes antiviral CXCR5+CD19+ B Cells and follicular/effector CXCR5+CD4+ T Cells in the lungs associated with protection from severe and fatal COVID-19 following infection with pathogenic SARS-CoV-2 Delta variant.

Journal of immunology (Baltimore, Md. : 1950)
2026

[Dry eye disease in young and middle-aged adults].

Vestnik oftalmologii
2025

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Frontiers in medicine
2026

Acute postoperative complications after scleral fixation of Akreos AO60 intraocular lens.

Journal of surgical case reports
2026

Isolated Unilateral Internuclear Ophthalmoplegia After Trauma: A Case Report.

Neuro-ophthalmology (Aeolus Press)
2026

Epigenetic regulation of gene expression in rare inherited retinal disorders.

Frontiers in genetics
2026

Eight-and-a-Half Syndrome: A Case Report on a Rare Pontine Neuro-Ophthalmologic Presentation.

Cureus
2026

Isocenter Optimization in WBRT: Concurrent Sparing of Lens and Lacrimal Gland via Anterior Penumbra Sharpening.

Journal of applied clinical medical physics
2026

Prevalence and influencing factors of dry eye syndrome among pilots: A survey study.

PloS one
2026

Corneal and lens densitometry in newly diagnosed polycystic ovary syndrome patients: a quantitative analysis using pentacam HR.

International ophthalmology
2026

Clinical Profile and Surgical Outcomes of Bilateral Duane Syndrome with Exotropia.

Journal of binocular vision and ocular motility
2026

Corneal epithelial thickness profiles in dry eye patients with or without primary Sjögren's syndrome.

BMC ophthalmology
2026

Idiopathic intracranial hypertension patients can be effectively managed using an OCT-based telemedicine model.

Eye (London, England)
2026

[Thumbtack needling combined with sodium hyaluronate eye drops for moderate-to-severe dry eye].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2026

[Longsha Kaihe Liuqi acupuncture in treatment of primary open angle glaucoma: a randomized controlled trial].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2026

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

Accidental Entry of Ointment in Anterior Chamber Postcataract Surgery: A Clinical Conundrum.

Annals of African medicine
2026

Immunotherapy-induced sialadenitis: sjögren's syndrome or a new sialadenitis.

Frontiers in immunology
2026

Posterior Vitreous Detachment Determines the Clinical Impact of Fibrovascular Membrane Fibrosis After Anti-VEGF Treatment in Proliferative Diabetic Retinopathy: A Real-World Study.

Clinical ophthalmology (Auckland, N.Z.)
2026

Multimodal Imaging Features of Bilateral Diffuse Uveal Melanocytic Proliferation: A Systematic Review of 82 Patients.

Ocular oncology and pathology
2026

Ocular motor and vestibular examination in the unconscious patient-standard of care.

Frontiers in neurology
2026

Bedside Smartphone-Based vHIT.

The Laryngoscope
2026

Tacrolimus for Dry Eye Disease: Translational Insights from Animal Models and Clinical Studies into Molecular Pathways and Anti-Inflammatory Mechanisms.

Current pharmaceutical design
2026

Congenital cyclic oculomotor palsy and spasms: a review of the literature and presentation of two new cases.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism.

Annals of neurology
2026

Immunomodulation of the Ocular Surface in Severe Dry Eye Disease: Expert-Driven Literature Review on Treatment Strategies with Description of Representative Challenging Cases.

Ophthalmology and therapy
2026

Visual Perception in Visual Snow Syndrome.

Annual review of vision science
2026

Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.

Frontiers in genetics
2026

Multiple Evanescent White Dot Syndrome After mRNA COVID-19 Vaccination.

Cureus
2026

Loss to Follow-Up Rates Among Pediatric Sickle Cell Disease Patients in an Ophthalmology Clinic.

Journal of vitreoretinal diseases
2026

François Pourfour du Petit (1664-1741): a pioneer in experimental medicine.

Acta neurochirurgica
2026

[A case of antiphospholipid syndrome complicated with hyperhomocysteinemia presenting initially with central retinal vein occlusion in a young male].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2026

Adverse Events and Intraocular Pressure-Lowering Effect of Topical 0.5% Apraclonidine in Childhood Glaucoma: A Retrospective Single-Center Study.

Ophthalmology. Glaucoma
2026

Risk of neuroblastoma among patients with pediatric Horner syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Mixed Autoimmune Hemolytic Anemia With Refractory Cold Agglutinin Syndrome in a Child Successfully Treated With Serial Whole Blood Exchange Transfusions and Immunosuppression.

Journal of pediatric hematology/oncology
2026

Juvenile Myasthenia Gravis: An Indian Perspective.

Neurology India
2026

Conjunctival Impression Cytology and Dry Eye Parameters in Migraine Patients.

Neurology India
2026

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype.

Frontiers in medicine
2026

Efficacy and mechanisms underlying MRI-guided HD-tDCS combined with aerobic exercise to ameliorate cognitive impairment associated with schizophrenia.

Frontiers in psychiatry
2026

Systemic metastatic retinal lymphoma masquerading as granulomatous uveitis.

GMS ophthalmology cases
2026

[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 chromatography
2026

Retinal vasoproliferative tumors in pediatric retinal dystrophies.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2026

Therapeutic efficacy and safety of a multi-wavelength LED irradiation device in a rat model of meibomian gland dysfunction.

Lasers in medical science
2026

Effect of a propylene-glycol-hydroxypropyl guar nanoemulsion on symptoms and ocular surface parameters in patients with evaporative dry eye.

Arquivos brasileiros de oftalmologia
2026

Quantitative assessment of tear film function and meibomian gland morphology in newly diagnosed atopic dermatitis.

Arquivos brasileiros de oftalmologia
2026

Evaluation of autonomic dysfunction with dynamic pupillometry in non-obese young women with polycystic ovary syndrome.

Arquivos brasileiros de oftalmologia
2026

The role of meibomian gland morphological alterations in the development of dry eye disease in type 2 diabetes.

Arquivos brasileiros de oftalmologia
2026

Open-Angle Glaucoma Presenting as Delayed-Onset Interface Fluid Syndrome in a Patient With Minimal Risk Factors.

Cureus
2026

Pediatric-Onset Multiple Sclerosis at Age 10 Following Nephrotic Syndrome: Early Recognition and Successful Treatment With Fingolimod.

Cureus
2026

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Cureus
2026

A Rare Case of Secondary Angle Closure Glaucoma Due to Soemmering's Ring in a Pseudophakic Eye: The Role of Ultrasound Biomicroscopy.

Cureus
2026

From the Ocular Surface to Neurophysiology: An Integrative Review of Digital Eye Strain.

Clinical optometry
2026

Somatic mosaicism of a novel USH2A variant in Usher syndrome.

Ophthalmic genetics
2026

Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.

Ophthalmic genetics
2026

True exfoliation syndrome.

Eye (London, England)
2026

Developing consensus definitions and methods for non-visually impairing eye conditions for population-based eye surveys in Nigeria: a Delphi study.

BMJ open
2026

Hybrid nanogel system of quercetin-loaded squalene NLCs with zinc-HA network for dry eye syndrome.

International journal of biological macromolecules
2026

Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.

International ophthalmology
2026

Anterior segment, static and dynamic pupillography changes in patients using different types of alpha-1 blockers.

Documenta ophthalmologica. Advances in ophthalmology
2025

Digital Eye Syndrome Among Tertiary Institution Students in the Post-Covid Era: A Cross-Sectional Study.

West African journal of medicine
2026

A Droplet Evaporimeter for Evaluating Eye Care Formulations.

Translational vision science &amp; technology
2026

Systemic Conditions Associated with Primary Open-Angle Glaucoma and Normal Tension Glaucoma in a Large US Adult Cohort.

Ophthalmic epidemiology
2026

Efficacy and Safety of Chinese Medicine Eye Nebulization in the Treatment of Diabetic Retinopathy: Protocol for a Double-Blind, Randomized, Placebo-Controlled Trial.

Diabetes, metabolic syndrome and obesity : targets and therapy
2026

Evaluation of the Impact of Cordyceps cicadae Mycelium on Vision Health: A Cohort Study.

International journal of medical sciences
2026

Predictive value of biochemical markers CRP, WBC, and total cholesterol for postoperative dry eye syndrome following phacoemulsification cataract surgery.

Journal of medical biochemistry
2026

Ocular social jetlag: a driver of immune-metabolic dysfunction in dry eye disease.

Frontiers in immunology
2026

Isolated 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 journal
2026

Severe Headache and Acute Blindness: A Case of Pituitary Apoplexy.

Clinical case reports
2026

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

Ophthalmic genetics
2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology
2026

Fishery-dependent data and oceanographic model hindcasts inform potential drivers of an emerging syndrome in snow crab.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences
2026

Choroidal neovascularization secondary to punctate inner choroidopathy after resolution of multiple evanescent white dot syndrome: A case report.

Medicine
2026

Trehalose: A Promising Therapeutic Agent for Diverse Pathological Conditions.

Current medical science
2026

Simultaneous quantification of lifitegrast and Rebamipide in hydrogel-based contact lenses using spectroscopic method.

International ophthalmology
2026

[Epidemiology and manifestations of Sjögren's disease].

Zeitschrift fur Rheumatologie
2026

Argon laser therapy for primary type 1 pterygium management, a randomized control trial: Six months follow up.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Effects of time-restricted eating on weight loss, sleep, and quality of life in obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with obesity: a randomized controlled trial.

Frontiers in nutrition
2025

Clinical Profile and Visual Rehabilitation with Mini-Scleral Device in Irregular Corneas at a Tertiary Eye Hospital : An Observational Study.

JNMA; journal of the Nepal Medical Association
2026

An abnormal immune response masquerading as infectious conditions.

SAGE open medical case reports
2025

Dry Eye in Post-menopausal Women Visiting Community Eye Centre: An Observational Study.

JNMA; journal of the Nepal Medical Association
2026

Routine Blood and Cerebrospinal Fluid Markers in Newly Diagnosed Idiopathic Intracranial Hypertension: An Exploratory Case-Control Study.

Eye and brain
2026

A theoretical consideration of the mechanisms underlying auditory symptoms in patients with superior semicircular canal dehiscence syndrome.

Acta oto-laryngologica
2026

Near-Constant Asymmetric Oculomotor Apraxia in an Infant with Joubert Syndrome Spectrum Disorder.

Movement disorders clinical practice
2026

Association 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 disorders
2026

Uveitis as a Disguise - Masquerade Syndromes in the Modern Era.

Ocular immunology and inflammation
2026

Magnetic resonance imaging-based detection of retinal hemorrhages in a multicenter cohort of abusive head trauma.

Pediatric radiology
2026

Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.

American journal of ophthalmology case reports
2026

A case of absent inferior rectus muscle: remedy procedure and considerations of pre- and post-operation.

American journal of ophthalmology case reports
2026

Ocular manifestations of STAT3 gain-of-function syndrome: A case of papillitis, retinitis, and retinal vasculitis.

American journal of ophthalmology case reports
2026

A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.

Journal of vitreoretinal diseases
2026

Spontaneous resolution of cystoid macular edema with concurrent axial elongation in a pediatric patient with Usher syndrome type 1B: a case report.

BMC ophthalmology
2026

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

European journal of human genetics : EJHG
2026

Therapeutic effects of Chelidonium majus on ocular surface ınflammation and tear film homeostasis in a benzalkonium chloride-ınduced rat model of dry eye disease.

International ophthalmology
2026

Ophthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.

The Journal of craniofacial surgery
2026

Left-Right Determination Factor 2 (LEFTY2) Is an Aqueous Humor Biomarker for Exfoliation Glaucoma.

Translational vision science &amp; technology
2026

CL-EVLPs Promote Corneal Repair in a BAC-Induced Corneal Injury Model via Ocular Microenvironment Reconstruction.

Investigative ophthalmology &amp; visual science
2026

Cross-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 sciences
2026

Bilateral Diffuse Uveal Melanocytic Proliferation Masquerading as Refractory Subretinal Fluid Due to Peripapillary Pachychoroid Syndrome.

Cureus
2026

Spectrum of non-ischemic oculomotor nerve palsies at a tertiary care centre - case series and literature review.

Strabismus
2026

"Pediatric Brown syndrome in the setting of hypercholesterolemia: case report of a possible new association".

Strabismus
2026

Optical 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 Neurophysiology
2026

Eye 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 Neurophysiology
2026

Hermansky-Pudlak Syndrome.

Eye (London, England)
2026

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 canadienne
2026

Correlation between ocular surface characteristics and tear lymphotoxin-alpha in patients with type 2 diabetes mellitus of different courses.

International ophthalmology
2026

Central Serous Chorioretinopathy in Parallel With Onset and Relapses of Minimal Change Nephrotic Syndrome: A 28-Year Case Follow-Up.

Cureus
2025

Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report.

JNMA; journal of the Nepal Medical Association
2026

Cataract surgery outcomes in pseudoexfoliation syndrome: a large multicenter database study.

Frontiers in ophthalmology
2026

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes.

Kidney medicine
2026

Acupuncture combined with auricular acupressure for dry eye: a SPIRIT-guided protocol for a multicenter randomized controlled trial.

Frontiers in medicine
2026

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.

Clinical case reports
2026

A novel murine model of Sjögren's disease using lacrimal autoantigen.

Frontiers in immunology
2026

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Veterinary ophthalmology
2026

[Neovascular complications of choroidal osteoma: Diagnosis and treatment].

Journal francais d'ophtalmologie
2026

Generation 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 research
2026

Landscaping evidence on first-line therapies for infantile epileptic spasms syndrome: An umbrella review.

Epilepsy research
2026

Visual search patterns in Unilateral Spatial Neglect: A review of eye-tracking evidence.

Behavioural brain research
2026

Electroacupuncture 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)
2026

Refractive Changes Associated With Pediatric Kidney Transplantation.

Pediatric transplantation
2026

Advances and Challenges in Sulcus-Implanted Intraocular Lenses: A Comprehensive Narrative Review.

Ophthalmology and therapy
2026

Comparison of Tear Function in Patients With and Without Mental Disorders: A Systematic Review and Meta-analysis.

Biomedical journal
2026

Origin, 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 Ophthalmologie
2026

Advances in the Diagnosis and Treatment of Obstructive Sleep Apnea in Women.

Pulmonary therapy
2026

Ly93 Inhibits Sphingomyelin Synthesis and Attenuates Inflammation and Injury in Dry Eye Conjunctival Organoids.

Investigative ophthalmology &amp; visual science
2026

The impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome.

bioRxiv : the preprint server for biology
2026

Integrated Bioinformatics Analysis of a TF-miRNA-mRNA Regulatory Network in Retinal Vein Occlusion with Metabolic Syndrome and its Association with Clinical Predictors.

Current eye research
2026

Varicella-Zoster Virus and the Eye: Clinical Spectrum, Management, and Vaccination.

Pathogens (Basel, Switzerland)
2026

Alterations in the Crystallization Pattern of Tear Fluid Induced by Increases in the Body Mass Index.

Life (Basel, Switzerland)
2026

Tear-Based Oxidative Stress Biomarkers in Primary and Sarcoidosis-Associated Dry Eye Disease.

International journal of molecular sciences
2026

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

International journal of molecular sciences
2026

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

International journal of molecular sciences
2026

Ocular Symptoms as a Marker of Dysautonomia in Long-COVID Patients: A Cross-Sectional Analysis.

Brain sciences
2026

Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model.

Nature communications
2026

Study 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 open
2026

Metastatic Intraocular Tumor Likely from Hepatocellular Carcinoma Mimicking Panuveitis.

Acta medica Okayama
2026

Defining Discordance Between Signs and Symptoms in Dry Eye Disease: Insights From the DRy Eye Assessment and Management (DREAM) Study.

American journal of ophthalmology
2026

The eye as a diagnostic key: the ophthalmologist's role in an atypical case of Miller Fisher Syndrome.

Archivos de la Sociedad Espanola de Oftalmologia
2026

The link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.

Experimental eye research
2026

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

JCI insight
2026

Metabolic Syndrome Predisposes Ossabaw Minipig Retina to an Early Neurodegenerative Milieu.

Cells
2026

[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 &amp; moxibustion
2026

Fortified Long-acting Ocular Gel Laden with Nanoformulated Dexamethasone for Dry Eye Therapy.

AAPS PharmSciTech
2026

The effects of elevated CO2 on brain and ocular signal intensity with intravenous contrast MRI.

Journal of neurophysiology
2026

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey.

Immunity, inflammation and disease
2026

Assessment 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 optometry
2026

Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.

Eye (London, England)
2026

A transient receptor potential vanilloid 1-dependent corneal-trigeminal neuroinflammatory circuit promotes corneal neuropathy.

Experimental &amp; molecular medicine
2026

Retinal BioAge is associated with indicators of cardiovascular-kidney-metabolic syndrome in UK and US populations.

Scientific reports
2025

Global prevalence of dry Eye: A systematic review and meta-analysis.

Contact lens &amp; anterior eye : the journal of the British Contact Lens Association
2026

Green vessel signal on multicolor imaging as an early sign of ischemic vasculitis in IRVAN Syndrome: A case report.

American journal of ophthalmology case reports
2026

Prevalence and predictors of dry eye syndrome among the young population in Jordan: A cross-sectional survey study.

Medicine
2026

Short-term efficacy of intense pulsed light in the treatment of hordeolum: A prospective cohort study.

Medicine
2026

A 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 Oftalmologia
2026

Lacrimal gland spheroids in tissue specific hydrogel for dry eye modelling.

The ocular surface
2026

Assessing facial asymmetry before and after early treatment of abnormal head posture caused by ocular problems.

Clinical &amp; experimental optometry
2026

The floppy thyroid eye disease.

International ophthalmology
2026

VKH-Like Syndrome in a Patient on Tofacitinib.

Journal of vitreoretinal diseases
2026

Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.

Clinical medicine insights. Pediatrics
2026

Comparison of individuals with radiologically isolated syndrome, early multiple sclerosis patients, and healthy controls using a digital neurological examination.

Multiple sclerosis (Houndmills, Basingstoke, England)
2026

Proanthocyanidins inhibit the inflammation response of dry eye by regulating IRAK4/JAK1/STAT1 signaling pathway.

Experimental eye research
2026

Complications after radiotherapy in patients with Graves' orbitopathy: A nationwide cohort study.

Eye (London, England)
2026

Ophthalmic screening in down syndrome: A DSMIG UK Best practice recommendation (Revised 2025).

Eye (London, England)

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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.

  1. Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41873899mais citado
  2. 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
  3. Prevalence and influencing factors of dry eye syndrome among pilots: A survey study.
    PloS one· 2026· PMID 41843563mais citado
  4. 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
  5. Ocular motor and vestibular examination in the unconscious patient-standard of care.
    Frontiers in neurology· 2026· PMID 41835076mais citado
  6. New insight into the features of Behçet's disease with gastrointestinal ulcer: a cross-sectional observational study.
    Orphanet J Rare Dis· 2021· PMID 34674734recente
  7. Hypersensitivity pneumonitis.
    Orphanet J Rare Dis· 2006· PMID 16817954recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2725(Orphanet)
  2. OMIM OMIM:609465(OMIM)
  3. MONDO:0012282(MONDO)
  4. GARD:10054(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. 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

Compêndio · Raras BR

Síndrome de anomalias oculares-aracnodactilia-cardiopatia

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