Raras
Buscar doenças, sintomas, genes...
Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular
ORPHA:352682CID-10 · Q04.3OMIM 615191DOENÇA RARA

A lisencefalia de paralelepípedos sem envolvimento muscular ou ocular é uma forma de lisencefalia de paralelepípedos caracterizada por uma constelação de malformações cerebrais que podem existir isoladamente ou em conjunto com anormalidades musculares e oculares mínimas. As características clínicas da doença incluem atraso grave no desenvolvimento, aumento do perímetro cefálico, hidrocefalia e convulsões.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A lisencefalia de paralelepípedos sem envolvimento muscular ou ocular é uma forma de lisencefalia de paralelepípedos caracterizada por uma constelação de malformações cerebrais que podem existir isoladamente ou em conjunto com anormalidades musculares e oculares mínimas. As características clínicas da doença incluem atraso grave no desenvolvimento, aumento do perímetro cefálico, hidrocefalia e convulsões.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
6
pacientes catalogados
Início
Childhood
+ infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q04.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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

🧠
Neurológico
15 sintomas
👁️
Olhos
2 sintomas
👂
Ouvidos
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

100%prev.
Hidrocefalia
Frequente (79-30%)
100%prev.
Morfologia anormal da substância branca cerebral
Frequente (79-30%)
100%prev.
Lissencefalia tipo II
Frequente (79-30%)
100%prev.
Convulsão
Ocasional (29-5%)
100%prev.
Hipoplasia do tronco cerebral
Frequente (79-30%)
100%prev.
Deficiência intelectual
Frequência: 4/4
29sintomas
Muito frequente (9)
Frequente (9)
Ocasional (2)
Muito raro (1)
Sem dados (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.

HidrocefaliaHydrocephalus
Frequente (79-30%)100%
Morfologia anormal da substância branca cerebralAbnormal cerebral white matter morphology
Frequente (79-30%)100%
Lissencefalia tipo IIType II lissencephaly
Frequente (79-30%)100%
ConvulsãoSeizure
Ocasional (29-5%)100%
Hipoplasia do tronco cerebralHypoplasia of the brainstem
Frequente (79-30%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2026Hoje · 2026🧪 2009Primeiro 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

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.

LAMB1Laminin subunit beta-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of the cerebral cortex (PubMed:23472759). It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical bar

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix, basement membrane

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Lissencephaly 5

An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
416.2 TPM
Nervo tibial
271.7 TPM
Adipose Visceral Omentum
245.7 TPM
Pulmão
216.7 TPM
Cólon sigmoide
161.6 TPM
OUTRAS DOENÇAS (1)
cobblestone lissencephaly without muscular or ocular involvement
HGNC:6486UniProt:P07942
TMTC3Protein O-mannosyl-transferase TMTC3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic re

LOCALIZAÇÃO

MembraneEndoplasmic reticulum

MECANISMO DE DOENÇA

Lissencephaly 8

A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
21.6 TPM
Skin Sun Exposed Lower leg
13.9 TPM
Skin Not Sun Exposed Suprapubic
13.7 TPM
Vagina
10.3 TPM
Esôfago - Mucosa
10.1 TPM
OUTRAS DOENÇAS (3)
lissencephaly 8periventricular nodular heterotopiacobblestone lissencephaly without muscular or ocular involvement
HGNC:26899UniProt:Q6ZXV5

Variantes genéticas (ClinVar)

196 variantes patogênicas registradas no ClinVar.

🧬 TMTC3: NM_181783.4(TMTC3):c.785del (p.Pro262fs) ()
🧬 TMTC3: NM_181783.4(TMTC3):c.2616_2619del (p.Lys872fs) ()
🧬 TMTC3: NM_181783.4(TMTC3):c.1123G>A (p.Glu375Lys) ()
🧬 TMTC3: NM_181783.4(TMTC3):c.212G>A (p.Arg71His) ()
🧬 TMTC3: NM_181783.4(TMTC3):c.2642dup (p.Thr882fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 60 variantes classificadas pelo ClinVar.

33
27
Patogênica (55.0%)
VUS (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
LAMB1: LAMB1, EX23-EX24DEL [Pathogenic]
LAMB1: LAMB1, NT5201_5224+28DEL [Pathogenic]
LAMB1: LAMB1, ASN788SER [Pathogenic]
LAMB1: C1182Y [Pathogenic]
LAMB1: NM_002291.3(LAMB1):c.3803_3804dup (p.Val1269fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Geometric Decomposition of OCT Angiography in RVO: Unmasking Congestive Versus Compensatory Phenotypes and Deep Retina-Choroid Coupling.

Translational vision science &amp; technology2026 Mar 02

To characterize microvascular remodeling in retinal vein occlusion (RVO) by distinguishing "congestion" from "compensation" using morphologic decomposition and to evaluate translaminar retina-choroid coupling. Swept-source optical coherence tomography angiography was performed on 226 eyes (88 RVO-affected, 88 fellow, 50 healthy controls). Vessel density (VD) was geometrically decomposed into vessel length density (VLD; abundance) and vessel diameter index (VDI; caliber). Linear mixed-effects models were used to account for intereye correlation. In the deep capillary plexus (DCP), fellow eyes exhibited "inefficient compensation" characterized by significantly increased VLD (25.17 ± 4.98 vs. 20.83 ± 4.02 mm/mm²) and decreased VDI (1.42 ± 0.07 vs. 1.47 ± 0.04) compared to controls (P < 0.001). Affected eyes demonstrated "congestive failure" with decreased VLD (16.06 ± 4.84 mm/mm²) and increased VDI (1.51 ± 0.09) (P < 0.05). DCP ischemia was strongly correlated with total retinal thickness (TRT, representing macular edema severity; ρ = -0.43, P < 0.001). A numerical "disease gradient" in retina-choroid coupling (DCP-choroidal vascularity index correlation) was identified: healthy (ρ = 0.37), fellow (ρ = 0.42), and affected eyes (ρ = 0.54). Sensitivity analysis revealed a biphasic synchronization sequence: temporary functional decoupling in mild edema (ρ = 0.30), followed by profound pathologic synchronization in severe congestive disease (TRT ≥400 µm, ρ = 0.63). RVO is a bilateral, hierarchical disorder. Morphologic decomposition reveals subclinical compensatory remodeling in fellow eyes that is obscured by conventional VD analysis. The progressive synchronization of deep retinal and choroidal degeneration suggests that RVO involves a pathologic collapse of neurovascular autoregulation. Decomposing density into length and diameter provides superior biomarkers for detecting early subclinical changes and monitoring the congestive status of RVO eyes.

#2

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

Investigative ophthalmology &amp; 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.

#3

Characterizing autonomic nervous system alterations in hospitalized patients with delirium: A scoping review.

Autonomic neuroscience : basic &amp; clinical2026 Mar 09

To characterize autonomic nervous system alterations in patients with delirium, focusing on cardiovascular, respiratory, ocular, exocrine, and gastrointestinal functions, as well as neurotransmitter levels. This review aims to synthesize current evidence and explore potential clinical implications for monitoring delirium. A scoping review was conducted in accordance with PRISMA-ScR guidelines and the Joanna Briggs Institute framework. Searches were performed on the Web of Science, PubMed, Scopus, and EBSCOhost. Eligible studies included experimental, quasi-experimental, observational, or descriptive designs involving hospitalized adults with delirium, diagnosed using standardized tools and accompanied by documented evaluation of the autonomic nervous system. Twenty-seven studies were included. Four domains were identified: cardiovascular activity (18 studies), which addressed heart rate variability, blood pressure variability, and blood flow. Several studies have reported changes in heart rate variability, increased blood pressure variability, and a reduction in mean arterial pressure associated with delirium. Four studies examined ocular changes, reporting reduced pupillary reflex responses in delirium. Gastrointestinal function was assessed in three studies through gut microbiota analysis, showing reduced microbial diversity and increased pathogenic taxa. Two studies examined neurotransmitter levels, reporting elevated norepinephrine in blood and urine associated with delirium. This scoping review reveals that autonomic alterations are commonly reported in delirium across various domains, including cardiovascular, ocular, gastrointestinal, and neurochemical systems. The evidence is heterogeneous in terms of measures, timing, and study designs, which limits the integration of findings. Autonomic measures may reflect physiological vulnerability, highlighting the need for standardized and longitudinal research.

#4

Association of Air Pollution Exposure with Incident Cataract Surgery and Neovascular Age-Related Macular Degeneration in 2 French Nationwide Cohorts.

Ophthalmology science2026 Apr

Age-related macular degeneration (AMD) and cataracts are part of the leading causes of blindness globally, with oxidative stress being a key factor in their development. Air pollution, known to exacerbate oxidative stress, may contribute to the progression of these diseases. This study aims at investigating the association between ambient air pollution exposure and the incidence of cataract surgery and neovascular AMD (nAMD). Two nationwide prospective French cohorts. The study involved 36 140 participants, including 17 911 Electricité de France-Gaz de France employees from the Gazel cohort and 18 229 individuals from the general French population in the Constances cohort, all aged over 53 years at inclusion and followed up for 10 years. Cataract surgery and nAMD cases were identified using the French National Health Data System (SNDS), which provided medical procedures and prescriptions. Air pollution exposure to nitrogen dioxide (NO2), fine particulate matter, and black carbon (BC) were estimated using land-use regression models. Cox proportional hazards models adjusted for age, sex, and education were used to assess associations. Analyses were stratified by area of residence (urban vs. rural), because of significant interactions. Neovascular AMD was identified through intravitreal anti-VEGF injections, and cataract surgery by the first surgery date, both extracted from SNDS data. Among the 36 140 participants included (39% women, mean age 60.2 years), 5543 incident cataract surgery and 266 nAMD cases were identified. In the combined Constances and Gazel populations, urban individuals exposed to more than 34.8 μg/m3 of NO2 had an 8% higher risk of cataract surgery (HR = 1.08, 95% confidence interval [CI]: 1.01-1.16, P = 0.017), while no significant effect was observed among rural participants. Additionally, in the Constances cohort, participants exposed to the fourth quartile (≥2.33 10-5/m) of BC had an 88% increased risk of nAMD compared to those exposed to the first quartile (HR = 1.88, 95% CI: 1.03-3.45, P = 0.041). No significant association with BC was observed in the combined Constances and Gazel populations. This study provides new insights into the impact of air pollution on ocular aging at a national level, highlighting the distinct effects observed between urban and rural populations. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

#5

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Mar 18

Glaucoma is a leading cause of irreversible blindness worldwide. One hallmark of glaucoma is the degeneration of retinal ganglion cells (RGCs). In this study, a dual role for growth hormone-releasing hormone receptor (GHRHR) modulation under glaucoma-relevant conditions and complementary injury paradigms involving the RGCs is identified. Using acute IOP elevation (retinal ischemia-reperfusion), chronic ocular hypertension (microbead-induced), and traumatic axonal injury (optic nerve crush) models, we show that GHRHR deficiency preserves RGC survival and uniquely restores visual functions-contrasting with GHRHR activation, which solely promotes cellular survival. Single-cell transcriptomic analysis uncovers RGC-specific alterations in genes associated with ferroptosis, lipid metabolism, oxidative stress, and mitochondrial dynamics. At the mechanistic level, GHRHR deficiency prevents the pathological downregulation of key anti-ferroptotic mediators GPX4 and FTH1 while suppressing pro-ferroptotic factors ACSL4 caused by glaucomatous neurodegeneration. This multifaceted regulation attenuated iron accumulation, lipid peroxidation, and reactive oxygen species (ROS) accumulation, effects that are diminished by the ferroptosis inducer RSL3. Notably, in mitochondria damaged primary RGCs, pharmacological GHRHR inhibition replicates these benefits, reducing lipid peroxidation and mitochondrial ROS to bolster RGC survival. Collectively, these findings establish GHRHR inhibition as a potent therapeutic strategy for glaucomatous neurodegeneration, synergistically rescuing both structural and functional integrity of the retina.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Comparison of Toric and Spherical Orthokeratology Lenses on High-Order Aberrations and Axial Length Elongation in Patients With Astigmatism.

Eye &amp; contact lens
2026

Corneal Endothelium Cell Loss after Ahmed and Baerveldt Glaucoma Drainage Device Implantation: A Systematic Review and Meta-analysis.

Journal of glaucoma
2026

Corneal thinning and perforation: a narrative review of diagnostic and stepwise management strategies.

International ophthalmology
2026

Simultaneous Analysis of Microsaccades and Pupil Size Variations in Age-Related Cognitive Impairment Using Eye-Tracking Technology.

Journal of eye movement research
2026

Geometric Decomposition of OCT Angiography in RVO: Unmasking Congestive Versus Compensatory Phenotypes and Deep Retina-Choroid Coupling.

Translational vision science &amp; technology
2026

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

Investigative ophthalmology &amp; visual science
2026

Facial Herpes Zoster With Hutchinson's Sign Complicated by Secondary Bacterial Superinfection: A Case Report.

Cureus
2026

Successful Treatment of Acanthamoeba Keratitis Using 0.08% Polyhexamethylene Biguanide Monotherapy: A Report of a Case in Latin America.

Cureus
2026

Vestibular functioning in people with Parkinson's disease.

International journal of audiology
2026

Real-world evaluation of belumosudil for chronic ocular graft-versus-host-disease: Efficacy and outcomes.

Bone marrow transplantation
2026

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

Ophthalmic genetics
2026

A Quantitative Measurement of Ocular Rotation in Small Incision Lenticule Extraction: Double Marking of Corneal Limbus and Sclera.

Journal of visualized experiments : JoVE
2026

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

Ophthalmology and therapy
2026

Baseline Features of Optic Neuritis in South Korea: A Retrospective Multicenter Study.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2026

Retinal Vasculopathy in Inflammatory Cerebral Amyloid Angiopathy: A Case Report of Peripheral Marker of Treatment Response.

Case reports in ophthalmology
2026

A Case of Nevus of Ota Associated with Agminated Blue Nevus.

Clinical, cosmetic and investigational dermatology
2026

A mouse model of allergic conjunctivitis with mucosal immune-related gene and circRNA dysregulation.

Frontiers in immunology
2026

NRF2 Deficiency Disrupts Mitochondrial Homeostasis via NDUFS7 in Trabecular Meshwork.

Research (Washington, D.C.)
2026

First Clinical Results of a Multicentric Prospective Study on the Visual Performance of Patients Implanted with a New Trifocal Aspheric Hydrophobic Intraocular Lens.

Clinical ophthalmology (Auckland, N.Z.)
2025

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.

Molecular vision
2026

Redefining Dry Eye Disease Management: Emerging Pharmacologic and Device-Based Therapies in the Era of Precision Care: A Narrative Review.

Ophthalmology and therapy
2026

Quantifying Orbital Segmentation in Thyroid Eye Disease- Fat to Muscle Ratio correlates with Restrictive Strabismus.

American journal of ophthalmology
2026

Anterior uveal morphometrics in complex central serous chorioretinopathy: insights from ultrasound biomicroscopy and anterior segment optical coherence tomography.

Clinical &amp; experimental optometry
2026

Characterizing autonomic nervous system alterations in hospitalized patients with delirium: A scoping review.

Autonomic neuroscience : basic &amp; clinical
2026

Lacrimal gland ultrasonography as an adjunct tool for Sjögren disease (SjD) diagnosis from undifferentiated connective tissue diseases.

Clinical rheumatology
2026

Yi Qi Cong Ming Decoction control the progression of lens-induced myopia in rats by modulating the cAMP/PKA/HIF-1α pathway.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Pediatric-Onset Multiple Sclerosis Presenting With Persistent Vertigo, Ataxia, and Optic Nerve Atrophy in a 15-Year-Old Girl: A Case Report.

Cureus
2026

Ocular Surface Changes and Glaucoma: A Prospective Contralateral Study of IOP-Reducing Eyedrops versus iStent Inject Surgery.

Clinical ophthalmology (Auckland, N.Z.)
2026

Region-Specific Retinal and Choroidal Biomarkers Associated with Visual Outcomes After Anti-VEGF Treatment in Center-Involved Diabetic Macular Edema.

Clinical ophthalmology (Auckland, N.Z.)
2026

Ocular multimodal imaging of a patient with malignant atrophic papulosis (Degos disease).

American journal of ophthalmology case reports
2026

Band keratopathy and conjunctival calcification in end-stage kidney disease: epidemiology, pathophysiology and clinical management.

Clinical kidney journal
2026

Ocular complications from glucagon-like peptide-1 receptor agonists: Clinical evidence, potential mechanisms, and clinical recommendations.

Journal of the Chinese Medical Association : JCMA
2026

Atopic Keratoconjunctivitis: From Molecular Mechanisms to Clinical Implications.

Survey of ophthalmology
2026

Ferroptosis modulation by Toxoplasma gondii suppresses sodium iodate-driven age-related macular degeneration.

Genes &amp; genomics
2026

The deviation between achieved net corneal thinning and predicted lenticule thickness after keratorefractive lenticule extraction surgery.

International ophthalmology
2026

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

International ophthalmology
2026

Ocular Complications of Cosmetic Laser Use in Patients and Treating Doctors/Estheticians: A Systematic Review of Case Reports and Case Series.

Indian dermatology online journal
2026

Exercise Attenuates Aortic Dissection Via PDE5A-Mediated Inhibition of Vascular Smooth Muscle Cell Phenotypic Switch.

Arteriosclerosis, thrombosis, and vascular biology
2026

Association of Air Pollution Exposure with Incident Cataract Surgery and Neovascular Age-Related Macular Degeneration in 2 French Nationwide Cohorts.

Ophthalmology science
2026

Multisystem Lomentospora prolificans progression on fosmanogepix despite in vitro activity: a call for expanding clinical research on novel antifungals.

ASM case reports
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

Sarcoid Uveitis with Choroidal Involvement.

Clinical ophthalmology (Auckland, N.Z.)
2026

The evolution of healthcare through the eye: From ancient superstition to the ophthalmoscope.

Frontiers in medicine
2026

Besifloxacin-eluting contact lens with sustained drug delivery and enhanced bioavailability.

International journal of pharmaceutics: X
2026

Identification of the Causative Pathogen in the 2023 Conjunctivitis Outbreak of Nepal Using Unbiased Metagenomic Next Generation Sequencing.

Journal of Nepal Health Research Council
2026

Prevalence and Risk Factors of Myopia among Undergraduate Students.

Journal of Nepal Health Research Council
2026

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Noninvasive brain stimulation of the left frontal eye field alters fixational control but leaves visually guided saccades unchanged.

Optometry and vision science : official publication of the American Academy of Optometry
2026

[Morphometric OCT parameters of the lens under accommodative stimulus. Report 2. Pilot study of the relationship between changes in the curvature of the anterior lens surface and the biomechanics of the anterior capsule].

Vestnik oftalmologii
2026

Management of Dry Eye Disease with Artificial Tears Containing Hyaluronic Acid and Trehalose: A Narrative Review.

Clinical ophthalmology (Auckland, N.Z.)
2026

B Vitamins and Ocular Health.

Clinical ophthalmology (Auckland, N.Z.)
2026

Association between endothelin-1 and diabetic retinopathy: a systematic review and meta-analysis.

Frontiers in endocrinology
2026

Cohort profile: the Resilient Minds national study of mental health and cognitive resilience in community dwelling adults aged 18 to 93.

Frontiers in digital health
2026

Strabismus as the Initial Manifestation of En Coup De Sabre in Adult Patients.

Neuro-ophthalmology (Aeolus Press)
2026

The Hidden Culprit Unraveled by Dermoscopy: A Rare Case of Pediatric Facial Demodicosis.

Cureus
2026

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

PloS one
2026

Whole-genome sequencing and analysis of Nocardia veterana isolates from keratitis patients.

Molecular genetics and genomics : MGG
2026

Integrated Radiomics-Enhanced machine learning models for accurate diagnosis and prediction of oGVHD-Related ocular complications.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

A Patient With Ocular Penetration and Traumatic Cataract During Double-Eyelid Blepharoplasty.

The Journal of craniofacial surgery
2026

Reconstruction of Full-Thickness Eyelid and Periorbital Defects Using the Paramedian Forehead Flap.

The Journal of craniofacial surgery
2026

Efficacy and Safety of Preservative-Free versus Preserved Latanoprost in Glaucoma and Ocular Hypertension: A Systematic Review and Meta-analysis.

Journal of glaucoma
2026

Guide for Managing Vascular Occlusion Due to Fillers with Extended Neuro-Ophthalmic Involvement: A Review of Diagnosis, Classification and Treatment.

Aesthetic plastic surgery
2026

Endothelial NMDA receptor involvement in retinal neurovascular damage following prenatal alcohol exposure in mouse model.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2026

Conjunctival Microvascular Characteristics as New Ocular Surface Inflammatory Indicators in Mild Dry Eye.

Ocular immunology and inflammation
2026

Case Report: Anti-GT1a antibody-associated ocular flutter.

Frontiers in immunology
2026

Scratching the Surface: Re-evaluating the Management of Corneal Abrasions.

Cureus
2026

Bridging the Gap: A Case of Unique Anterior Segment Optical Coherence Tomography Presentation of Retrocorneal Membrane and Fibrous Bridging After Birth-Related Descemet's Membrane Detachment.

Cureus
2026

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

Frontiers in neurology
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

Focus on Lactate and Lactylation Modification: The Potential Role in Ophthalmic Disease Treatment.

International journal of molecular sciences
2026

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.

Journal of clinical medicine
2026

Dual Evaluation of Malva Extract in Eye-Drop Formulations: Antioxidant Efficacy and Physicochemical Properties Relevant to the Treatment of Dry Eye Disease.

Journal of clinical medicine
2026

Impact of PAX6-Related Congenital Aniridia on Corneal Diameter, Central Corneal Thickness and Keratometry.

Journal of clinical medicine
2026

Correlation between anti-retinal antibodies and lupus retinopathy in systemic lupus erythematosus.

Scientific reports
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

Automated Measurement of Horizontal Strabismus in Children's Primary Gaze Photographs Using Deep Learning and Computer Vision.

Photodiagnosis and photodynamic therapy
2026

Gas Concentration Errors in Vitreoretinal Surgery: Insights from a Model of Gas Mass Transfer Dynamics.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
2026

Retinal and extra-retinal contributions of blinking to perceptual alternation in bistable apparent motion.

Journal of vision
2026

Genetic Regulation of Wnt/PCP Components Through Fgf10/Fgfr2/Sox9 Module in Tear Duct Development.

Investigative ophthalmology &amp; visual science
2026

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

Frontiers in genetics
2026

Impact of traumatic lens injury on visual and anatomical prognosis following open globe injuries: an analysis from a tertiary trauma referral center.

Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma &amp; emergency surgery : TJTES
2026

Development of a predictive model based on aqueous cytokines data for response to anti-VEGF therapy in diabetic macular edema.

Eye and vision (London, England)
2026

GazePlotter: An open-source solution for the automatic generation of scarf plots from eye-tracking data.

Behavior research methods
2026

[Analysis of clinical, pathological and molecular genetic characteristics of conjunctival melanoma].

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

[Recurrence of peripheral anterior synechiae following phacoemulsification combined with intraocular lens implantation and goniosynechialysis in primary angle-closure glaucoma: an intermediate and long-term analysis].

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

Comparative pathogenesis and management of orbital/conjunctival and gastric MALT lymphoma: Microbial drivers, molecular mechanisms, and therapeutic implications.

Survey of ophthalmology
2026

Clinical Guidelines for the Diagnosis and Management of Retinal Artery Occlusions by the Spanish Society of Retina and Vitreous (SERV).

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
2026

Nerve-rattling infections! Clinical and radiological tracing of cranial nerve palsies to infectious skull base osteomyelitis.

Indian journal of ophthalmology
2026

Targeted Multidomain Treatment for Mild Traumatic Brain Injury: A Randomized Clinical Trial.

JAMA network open
2026

Associations Between Body Mass Index and Intraocular Pressure in a Chinese Adult Population.

Diabetes/metabolism research and reviews
2026

Conjunctival Impression Cytology and Dry Eye Parameters in Migraine Patients.

Neurology India
2026

Autophagy in ocular diseases: from mechanisms to therapeutic potential.

Frontiers in cell and developmental biology
2026

Systemic metastatic retinal lymphoma masquerading as granulomatous uveitis.

GMS ophthalmology cases
2026

Serial Aqueous Humor Proteomics in Diabetic Macular Edema: Correlation of Novel Targets with Retinal Fluid Volume.

Ophthalmology science
2026

Baseline histological and morphometric description of the retina in the Pied Crow (Corvus albus).

BMC research notes
2026

VEGF and Neurotrophins Interaction in the Retinal Neurovascular Unit Homeostasis: A Target for Ocular Disease Treatment and Management.

Pharmaceutical research
2026

Progression of Vestibular Deficits Following Moderate-Intensity Blast Overpressure in Rats.

Journal of the Association for Research in Otolaryngology : JARO
2026

Validation of the Eyerobo FC Portable Fundus Camera for Diabetic Retinopathy Screening Using Public Datasets and Deep Learning.

Ophthalmology and therapy
2026

Retinal Phenotype in Mucopolysaccharidosis Type III.

American journal of ophthalmology
2026

In Vitro Ocular Cytotoxicity of BEE Venom in ARPE-19, NTM5, HCET, and HCEC-12 Cell Lines.

Cell biochemistry and biophysics
2026

Post-Visual Diagnosis Distress: The Weight of Threatened Sight.

Ophthalmology and therapy
2026

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.

Investigative ophthalmology &amp; visual science
2025

Foreign Body Presenting as Golden Hypopyon.

Surgeries
2026

Exploring the Link between Hematological Parameters and Ocular Surface Disease: Insights from Pterygium.

International journal of applied &amp; basic medical research
2026

Surgical management of acute choroidal neovascularization related submacular hemorrhage: Three case reports.

World journal of clinical cases
2026

Combined PRP and Contact Lens for Corneal Ulcer Perforation: A Case Report.

International medical case reports journal
2026

Determinants of cataract types following pars plana vitrectomy: roles of underlying diseases, age, surgery duration, and silicone oil tamponade.

BMC ophthalmology
2026

Evaluation of 7 modern IOL power calculation formulas in two PARTIAL-Range of Field IOL designs and a new constant optimization method.

BMC ophthalmology
2026

FPR2/ALX stimulation modulates microglia and natural killer cells to restrict autoimmune astrocytopathy.

Acta pharmacologica Sinica
2026

Prevalence and management practices of ophthalmic lesions in laboratory mice.

Scientific reports
2026

Living with "Bathroom Issues": Inflammatory Bowel Disease in Pediatric and Adolescent Athletes.

Current sports medicine reports
2026

Role of Glutamate Receptor-Related Genes in Myopia Occurrence and Visual Development.

Current eye research
2026

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

Clinical optometry
2026

Quality and reliability of glaucoma-related online Chinese videos on Douyin and Bilibili: Cross-sectional content analysis study.

Digital health
2026

Radiomics in glioblastoma recurrence: advances in prediction, localization, and differentiation from treatment-related effects.

Journal of translational medicine
2026

The m5C demethylase TET1 is identified as a key regulator of scleral remodeling in myopia.

Clinical epigenetics
2026

Dynamic velocity scaling for industrial collaborative robots: a gaze-driven approach.

Scientific reports
2026

Clinical phenotype and long-term damage in paediatric Behçet's disease: comparative performance of ISG, ICBD and PEDBD classification criteria in a retrospective endemic cohort.

RMD open
2026

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

International journal of biological macromolecules
2026

Evaluation of Optical Coherence Tomography Angiography Parameters in Pulmonary, Ocular and Extrapulmonary Sarcoidosis.

Ocular immunology and inflammation
2026

Silicone Oil Migration During Intravitreal Anti-VEGF Injections: A Review of Clinical Evidence and Factors Related to Transmission.

Retina (Philadelphia, Pa.)
2026

Ocular adnexa follicular lymphoma: clinicopathological study of 23 patients.

Virchows Archiv : an international journal of pathology
2025

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

West African journal of medicine
2026

Expanding the role of avacopan beyond renal involvement: Clinical insights from two cases.

Modern rheumatology case reports
2026

Retinal Capillary Density Reduction Contributes to Dysthyroid Optic Neuropathy via an L-Arginine-NO Pathway: A Metabonomics and Clinical Trial Study.

MedComm
2026

De novo and quiescent cGVHD are distinguishable in a prognostic biomarker panel.

Frontiers in immunology
2026

Multimodal imaging of stellate nonhereditary idiopathic foveomacular retinoschisis with midperipheral retinoschisis and microvasculopathy.

American journal of ophthalmology case reports
2026

Ocular Manifestations of Multiple Sclerosis: A Retrospective, Population-Based Single-Center Study.

Cureus
2026

A Rare Case of Fluoxetine-Induced Vortex Keratopathy.

Cureus
2026

Bilateral Electric Cataracts With Markedly Disparate Onset Times.

Cureus
2026

Successful upadacitinib treatment in anti-TNF-refractory intestinal Behçet's disease: a case report and literature review.

Frontiers in medicine
2026

Beyond the orbit: Odontogenic cellulitis with an unusual retinal complication.

Archivos de la Sociedad Espanola de Oftalmologia
2026

Efficacy and safety of conbercept, ranibizumab and laser in retinopathy of prematurity: a systematic review and network meta-analysis.

Survey of ophthalmology
2026

Educational quality of ocular and orbital anatomy videos on YouTube: a student- and patient-centered evaluation.

BMC medical education
2026

Intraocular Metastasis: Differential Diagnosis and Management.

Clinical &amp; experimental ophthalmology
2026

Establishment of a strategy using alternative methods to the use of animals to evaluate the ocular irritant potential of cosmetics for styling, braiding, or fixing hair.

Toxicology mechanisms and methods
2026

A prospective comparison of ultrawide-field and two-field fundus imaging for diabetic retinopathy assessment.

BMC medical imaging
2026

Iberian Registry of Ocular Syphilis (IBERSOS) report 1: epidemiology, clinical spectrum and treatment outcomes of ocular syphilis in the Iberian Peninsula.

The British journal of ophthalmology
2026

Treatment-resistant arterial hypertension revealing giant cell arteritis: A case report.

The American journal of medicine
2026

SIRT3 mediates mitochondrial protection and attenuates mtROS-TXNIP-NLRP3 signaling activation in dry eye disease.

Experimental eye research
2026

Immunohistochemistry analysis of P16INK4a in pre-invasive ocular surface squamous neoplasia tissue samples infected and not infected by human papilloma virus at an academic laboratory in Northern Tshwane.

Experimental eye research
2026

Dysregulated hyaluronan metabolism drives inflammation and angiogenesis in proliferative diabetic retinopathy.

Frontiers in immunology
2026

Tolcapone Interferes With Key Pathological Features in Alzheimer's Disease.

Bioinorganic chemistry and applications
2026

In vivo characterization of a retinal cellular biomarker of inflammation in multiple sclerosis.

Brain communications
2026

Clinical features, treatment and outcomes of sarcoidosis in New Zealand: a comparative study between Māori and New Zealand European patients.

Internal medicine journal
2026

Cutaneous T-Cell Lymphoma With Conjunctival T-Lymphocyte Infiltration in a Dog.

Veterinary ophthalmology
2025

Melanoma of unknown primary presenting as intestinal obstruction: a diagnostic challenge.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2026

Predictors of Survival and Length of Stay in Steven Johnson syndrome and toxic epidermal necrolysis: A single centre retrospective study of 111 patients.

Journal of burn care &amp; research : official publication of the American Burn Association
2026

Comparison of IgG4 related disease in patients aged≤25 years (pediatric, adolescent, and young adult) and those aged≥50 years.

Reumatologia clinica
2026

Dysregulation of human corneal miRNAs and their cognate targets in Fusarium spp. keratitis and its implication in disease progression.

The ocular surface
2026

Application of photoresponsive materials in ophthalmology.

Nanomedicine : nanotechnology, biology, and medicine
2026

Effect of osteopathic vs sham treatment and test-retest improvements on smooth pursuit eye movements.

Complementary therapies in medicine
2026

Sequential multifocal ocular adnexal recurrence of blastic plasmacytoid dendritic cell neoplasm.

Orbit (Amsterdam, Netherlands)
2026

Retinal and choroidal microvascular alterations in ıdiopathic pulmonary fibrosis: an OCTA study.

International ophthalmology
2026

Acute Posterior Multifocal Placoid Pigment Epitheliopathy Spectrum on Multimodal Imaging: A Severity-Driven Ischemic Continuum.

Ocular immunology and inflammation
2026

Orbital Myiasis Secondary to Neglected Maxillary Sinus Squamous Cell Carcinoma in an 85-Year-Old Woman: A Case Report.

International medical case reports journal
2026

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot.

American journal of ophthalmology case reports
2025

Posterior Segment Involvement and Treatment Outcomes of Closed Globe Injury at Tertiary Eye Care Center: An Observational Study.

JNMA; journal of the Nepal Medical Association
2026

Crucial involvement of transforming growth factor beta (TGF-β)/Smad signaling regulation by miR-204-5p in cataract and posterior capsular opacification.

Biochemistry and biophysics reports
2026

Medication adherence rates in patients with ocular inflammatory disease.

Frontiers in medicine
2026

Efficacy and safety of aflibercept biosimilars compared to aflibercept in the treatment of neovascular age-related macular degeneration: a systematic review and meta-analysis.

Frontiers in pharmacology
2026

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Clinical nephrology. Case studies
2026

Development of a patient advocate committee for a pediatric biobank.

Research involvement and engagement
2026

Uncovering the relationship between the human ocular surface microbiome and gut microbiome.

BMC microbiology
2026

Reduced Accommodation Without Mydriasis After Micropulse Cyclophotocoagulation in a Young Congenital Glaucoma Patient: A Case Report.

The American journal of case reports
2026

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

American journal of ophthalmology case reports
2026

Large-scale study of ocular biometry in Korean adults: age-related trends and associations.

Eye (London, England)
2026

Large language model-based scribing tools for ophthalmology: performance and safety evaluation using simulated clinical encounters.

Eye (London, England)
2026

Clinical characteristics and treatment outcome of conjunctival myxoma.

Eye (London, England)
2026

Ocular syphilis: Clinical characteristics, HIV status, and outcomes in a 10-year case series from Türkiye.

International journal of STD &amp; AIDS
2026

Multimodal imaging evaluation and management of orbital metastasis: experience at a single institution.

International ophthalmology
2026

High-Resolution Ultrasonography for Detecting Peripheral Neuropathy in Leprosy: A Systematic Review and Meta-Analysis.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2026

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

Investigative ophthalmology &amp; visual science
2026

Dupilumab-Associated Ocular Surface Disease in a Local Asian Chinese Population.

Cureus
2026

Efficacy and safety of immunosuppressants and immunomodulators in juvenile myasthenia gravis: a systematic review and meta-analysis.

Journal of translational medicine
2026

Unravelling the Contribution of Matrix Metalloproteinase-3 Genotype-Phenotype to Pterygium Risk.

Cancer genomics &amp; proteomics
2026

Visual outcomes after blunt ocular trauma: clinical findings, management, and prognostic factors.

International ophthalmology
2026

Break in Corneal Shine due to Lime: Successful Restoration of Cornea after Accidental Chemical Injury - A Case Report.

Annals of African medicine
2026

Comparative Evaluation of Visual Outcomes and Patient Satisfaction After Eyecryl SERT Versus TECNIS Eyhance Intraocular Lens Implantation in Cataract Patients.

Cureus
2026

Evaluation of the Benefits of a Pharmacist-led Educational Program on Achievement of Intra-ocular Pressure Target among Patients with Open Angle Glaucoma: A Qusai-experimental Study.

Journal of research in pharmacy practice
2026

Viral mechanisms, tropism, and clinical relevance regarding the ophthalmic manifestations of SARS-CoV-2 infection.

International journal of ophthalmology
2026

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

Frontiers in immunology
2026

Herpetic panophthalmitis in a patient with a history of neonatal herpetic encephalitis.

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

Refractive-State-Specific Acute Ocular Structural Changes Induced by Full-Spectrum Light in Children with Intermittent Exotropia.

Photodiagnosis and photodynamic therapy
2026

Presenting Clinical Features of Vitreoretinal Lymphoma.

Clinical &amp; experimental ophthalmology
2026

Perfluorooctane sulfonate (PFOS) induces Caspase-8-mediated pyroptosis via GSDMD and GSDME to drive retinal disease: Evidence from epidemiological and experimental studies.

Environmental pollution (Barking, Essex : 1987)
2026

Retinal toxicity following SBP-101 combined with gemcitabine and nab-paclitaxel chemotherapy.

Journal francais d'ophtalmologie
2026

Fibrous ingrowth: an overlooked cause of Ahmed Glaucoma Valve failure.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

Health impacts of micro- and nanoplastics in humans: systematic review of in vivo evidence.

Environmental health : a global access science source
2026

An Individualized Surgical Approach for the Management of Recurrent Pterygium: A Case Report.

Case reports in ophthalmology
2026

An In Vitro Evaluation of the Effect and Protection of Artificial Tear Formulations on Human Corneal Epithelial Cells in Normal and Dry Eye Disease States.

Pharmaceutics
2026

Ischemia-Induced Neurodegeneration in Glaucoma: Mechanistic Insights and Translational Opportunities for Psychoplastogen-Based Therapies.

Pharmaceuticals (Basel, Switzerland)
2026

Ocular Involvement as a Key Marker of Systemic Disease in Dogs Naturally Infected with Leishmania infantum: Clinical, Laboratory, and Histopathological Insights.

Pathogens (Basel, Switzerland)
2026

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

Pathogens (Basel, Switzerland)
2026

Reactive Infectious Mucocutaneous Eruption (RIME) Associated with Mycoplasma pneumoniae: Clinical and Immunological Insights from Pediatric Cases.

Microorganisms
2026

Air Pollution, Pollen, and Indoor Exposures in Allergic Conjunctivitis: A Systematic Review.

Life (Basel, Switzerland)
2026

FOXC1 Regulates Cytokine Signaling, Inflammatory Pathways, and Retinoid Metabolism to Maintain Limbal Epithelial Cell Homeostasis In Vitro.

International journal of molecular sciences
2026

SIRT1 rs7069102 Polymorphism Confers Increased Risk of Diabetic Retinopathy in T2DM.

Genes
2026

Inflammation-Mediated Immune Imbalance in the Pathogenesis of Diabetic Cataracts.

Biomedicines
2026

Applications of Artificial Intelligence in Corneal Nerve Images in Ophthalmology.

Diagnostics (Basel, Switzerland)

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Geometric Decomposition of OCT Angiography in RVO: Unmasking Congestive Versus Compensatory Phenotypes and Deep Retina-Choroid Coupling.
    Translational vision science &amp; technology· 2026· PMID 41873904mais citado
  2. Ocular Surface Microbiota-Derived Lipoteichoic Acid Promotes Dry Eye Disease by Inducing Corneal Inflammation.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41873899mais citado
  3. Characterizing autonomic nervous system alterations in hospitalized patients with delirium: A scoping review.
    Autonomic neuroscience : basic &amp; clinical· 2026· PMID 41863915mais citado
  4. Association of Air Pollution Exposure with Incident Cataract Surgery and Neovascular Age-Related Macular Degeneration in 2 French Nationwide Cohorts.
    Ophthalmology science· 2026· PMID 41853568mais citado
  5. GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41849678mais citado
  6. Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.
    BMC Ophthalmol· 2025· PMID 41188778recente
  7. Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.
    Brain Dev· 2025· PMID 40914050recente
  8. Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.
    Neuropsychopharmacol Rep· 2025· PMID 40814256recente
  9. Fukuyama Congenital Muscular Dystrophy.
    · 1993· PMID 20301385recente
  10. Urinary prostaglandin D(2) and E(2) metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy.
    Sci Rep· 2025· PMID 40011677recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:352682(Orphanet)
  2. OMIM OMIM:615191(OMIM)
  3. MONDO:0014077(MONDO)
  4. GARD:17526(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q56003205(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

Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular
Compêndio · Raras BR

Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular

ORPHA:352682 · MONDO:0014077
Prevalência
<1 / 1 000 000
Casos
6 casos conhecidos
Herança
Autosomal recessive
CID-10
Q04.3 · Outras deformidades por redução do encéfalo
Início
Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3554657
Wikidata
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