Raras
Buscar doenças, sintomas, genes...
Paralisia oculomotora
ORPHA:98685CID-10 · H49.3DOENÇA RARA

Paralisia do nervo que move o olho.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Paralisia do nervo que move o olho.

🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H49.3
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
32 sintomas
👁️
Olhos
20 sintomas
🦴
Ossos e articulações
20 sintomas
😀
Face
16 sintomas
💪
Músculos
14 sintomas
👂
Ouvidos
7 sintomas

+ 121 sintomas em outras categorias

Características mais comuns

Prosódia da fala anormal
Anormalidade de movimento da língua
Anormalidade dos músculos da mandíbula
Reflexo corneano diminuído
Deficiência intelectual, moderada
Talipes equinovarus bilateral
247sintomas
Sem dados (247)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 247 características clínicas mais associadas, ordenadas por frequência.

Prosódia da fala anormalAbnormal speech prosody
Anormalidade de movimento da línguaMovement abnormality of the tongue
Anormalidade dos músculos da mandíbulaAbnormality of jaw muscles
Reflexo corneano diminuídoDecreased corneal reflex
Deficiência intelectual, moderadaIntellectual disability, moderate

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa6
Últimos 10 anos200publicações
Pico202145 papers
Linha do tempo
20202020Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

6 genes identificados com associação a esta condição.

MAFBTranscription factor MafBDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Activation of anterior HOX genes in hindbrain development during early embryogenesis
MECANISMO DE DOENÇA

Multicentric carpotarsal osteolysis syndrome

A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Baço
181.0 TPM
Skin Sun Exposed Lower leg
133.1 TPM
Skin Not Sun Exposed Suprapubic
83.0 TPM
Tecido adiposo
63.3 TPM
Mama
50.0 TPM
OUTRAS DOENÇAS (4)
multicentric carpo-tarsal osteolysis with or without nephropathyDuane retraction syndrome 3 with or without deafnessDuane retraction syndromeDuane retraction syndrome with congenital deafness
HGNC:6408UniProt:Q9Y5Q3
SALL4Sal-like protein 4Candidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (3)
Transcriptional regulation of pluripotent stem cellsRegulation of PTEN gene transcriptionPOU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
MECANISMO DE DOENÇA

Duane-radial ray syndrome

Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

EXPRESSÃO TECIDUAL(Tecido-específico)
Tireoide
11.9 TPM
Testículo
8.9 TPM
Próstata
3.7 TPM
Pâncreas
1.3 TPM
Glândula salivar
1.2 TPM
OUTRAS DOENÇAS (5)
Duane-radial ray syndromeIVIC syndromeOkihiro syndrome due to 20q13 microdeletionOkihiro syndrome due to a point mutation
HGNC:15924UniProt:Q9UJQ4
REV3LDNA polymerase zeta catalytic subunitCandidate gene tested inAltamente restrito
FUNÇÃO

Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Translesion synthesis by POLKTranslesion synthesis by REV1Translesion synthesis by POLI
EXPRESSÃO TECIDUAL(Ubíquo)
Útero
46.6 TPM
Cervix Endocervix
40.3 TPM
Fibroblastos
40.0 TPM
Cervix Ectocervix
36.1 TPM
Cerebelo
33.0 TPM
OUTRAS DOENÇAS (1)
Mobius syndrome
HGNC:9968UniProt:O60673
PLXND1Plexin-D1Candidate gene tested inAltamente restrito
FUNÇÃO

Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in respons

LOCALIZAÇÃO

Cell membraneCell projection, lamellipodium membrane

VIAS BIOLÓGICAS (3)
NOTCH3 Intracellular Domain Regulates TranscriptionOther semaphorin interactionsRND2 GTPase cycle
MECANISMO DE DOENÇA

Congenital heart defects, multiple types, 9

An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
106.9 TPM
Tecido adiposo
104.0 TPM
Nervo tibial
94.8 TPM
Cervix Endocervix
89.0 TPM
Adipose Visceral Omentum
88.6 TPM
OUTRAS DOENÇAS (3)
congenital heart defects, multiple types, 9Mobius syndromepersistent truncus arteriosus
HGNC:9107UniProt:Q9Y4D7
CHN1N-chimaerinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance

LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
RAC1 GTPase cycleCDC42 GTPase cycle
MECANISMO DE DOENÇA

Duane retraction syndrome 2

A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.

OUTRAS DOENÇAS (2)
Duane retraction syndrome 2Duane retraction syndrome
HGNC:1943UniProt:P15882
MAPTMicrotubule-associated protein tauDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isofo

LOCALIZAÇÃO

Cytoplasm, cytosolCell membraneCytoplasm, cytoskeletonCell projection, axonCell projection, dendriteSecreted

VIAS BIOLÓGICAS (1)
Caspase-mediated cleavage of cytoskeletal proteins
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
223.0 TPM
Cérebro - Hemisfério cerebelar
218.9 TPM
Córtex cerebral
161.2 TPM
Brain Frontal Cortex BA9
156.7 TPM
Brain Anterior cingulate cortex BA24
104.1 TPM
OUTRAS DOENÇAS (10)
Pick diseaseprogressive supranuclear palsy-parkinsonism syndromesemantic dementiasupranuclear palsy, progressive, 1
HGNC:6893UniProt:P10636

Variantes genéticas (ClinVar)

528 variantes patogênicas registradas no ClinVar.

🧬 MAFB: GRCh37/hg19 20q11.21-13.12(chr20:31010829-44560369)x1 ()
🧬 MAFB: NM_005461.5(MAFB):c.509C>A (p.Ser170Ter) ()
🧬 MAFB: NM_005461.5(MAFB):c.284T>A (p.Met95Lys) ()
🧬 MAFB: NM_005461.5(MAFB):c.618C>A (p.Ser206Arg) ()
🧬 MAFB: NM_005461.5(MAFB):c.136T>C (p.Cys46Arg) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

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Onde tratar no SUS

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pediatric Cranial Nerve Palsies.

International ophthalmology clinics2026 Apr 01

Cranial nerve palsies in children offer unique challenges distinct from those in adults, and typically arise from congenital, traumatic, neoplastic, or postinfectious inflammatory disease. With rare reports of diplopia, diagnosis depends on indirect signs such as abnormal head posture, strabismus, or abnormal gaze. The oculomotor (III), trochlear (IV), and abducens (VI) nerves follow sometimes long, intricate courses from the brainstem to the target muscle(s) within the orbit. Accurate diagnosis requires integrating anatomic understanding with subtle clinical presentations and imaging findings, and management must emphasize limitations of congenital disease while relying on neural plasticity and adaptive behaviors. Advances in neuroimaging, molecular genetics, and surgical techniques have greatly improved time to diagnosis and treatment outcomes.

#2

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics2026 Apr 01

Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies.

#3

Selective Nasal Anterior Superior Oblique Tenectomy for the Treatment of Superior Oblique Myokymia.

Journal of binocular vision and ocular motility2026

Superior oblique myokymia is a rare condition characterized by spontaneous episodes of high frequency, low amplitude, usually unilateral torsional oscillopsia. Surgical treatment is indicated when medical therapy fails to improve symptoms. The traditional surgical recommendation is an ipsilateral full-tendon superior oblique tenectomy to remove all attachments of the superior oblique tendon to the sclera. This approach will likely result in a secondary superior oblique palsy, requiring simultaneous weakening of the ipsilateral inferior oblique muscle. We report a patient presenting with diplopia and oscillopsia in the setting of superior oblique paresis and myokymia with persistent symptoms after initial superior oblique tuck. An alternative surgical approach consisting of superior oblique anterior one-third nasal tenectomy and contralateral inferior rectus recession resulted in marked improvement of oscillopsia associated with superior oblique myokymia while minimizing the risk of inducing downgaze diplopia often observed with superior oblique tenectomy.

#4

Cranial nerve neuropathies: a rare manifestation of cat scratch disease.

BMC infectious diseases2026 Jan 24

Cranial nerve neuropathies represent a rare manifestation of cat scratch disease (CSD). Only a few case reports have been published, and the full clinical spectrum remains poorly characterized. We aimed to describe the clinical presentation, diagnostic approach, and prognosis of cat scratch disease (CSD)-associated cranial nerve neuropathies, a manifestation that is poorly characterized. Using data from a national CSD surveillance study, we identified patients with CSD-associated cranial neuropathies confirmed by serology and/or PCR for Bartonella henselae. Clinical, epidemiological, and imaging data were analyzed. Follow-up was conducted. Seven immunocompetent patients with cranial nerve neuropathies were identified among approximately 4100 CSD patients diagnosed over a 28-year period (1997–2025). Affected cranial nerves included the facial (n = 3), abducens (n = 2), oculomotor (n = 1), and glossopharyngeal (n = 1) nerves, the latter two not previously reported in patients with CSD. All patients reported cat exposure. Neuropathies were accompanied by other CSD-related features, including fever (71%), lymphadenitis (57%), neuroretinitis (43%), and encephalitis (14%). Three patients received antibiotic therapy and five were treated with systemic corticosteroids. Six patients fully recovered within a median of 4 weeks; one patient showed marked improvement after 3 months and was subsequently lost to follow-up. CSD-associated cranial neuropathies are rare and possibly underdiagnosed. Diagnostic clues include cat contact and concurrent CSD features such as fever, lymphadenopathy, or neuroretinitis. These findings are hardly observed in idiopathic cranial nerve palsies such as Bell’s palsy, for which guidelines recommend against routine serologic evaluation. Although outcomes are generally favorable, optimal treatment remains undefined. We suggest testing for B. henselae infection in patients with cranial neuropathies when CSD is suspected. Increased clinical awareness is warranted to facilitate timely diagnosis and management.

#5

Ocular Myasthenia Gravis following strabismus surgery and presenting as refractory strabismus.

Strabismus2026 Mar

Ocular myasthenia gravis is a protean disorder and can present with myriad disorders of ocular motility. The diagnosis may not be obvious at presentation and strabismus surgery has occasionally been performed with unexpected outcomes. Strabismus surgery can be performed on patients with ocular myasthenia gravis who have stable ocular deviations, although outcomes may vary. We report two patients who were operated for strabismus and were diagnosed as ocular myasthenia gravis later, when classic signs appeared. The first patient underwent right medial rectus recession and left lateral rectus plication for a left sixth nerve palsy surgery. He developed recurrent strabismus and ptosis 3 months after surgery and was diagnosed as ocular myasthenia gravis on the basis of positive ice test, fatigue test and repetitive nerve stimulation test. He was started on a tapering regime of oral steroids and pyridostigmine. This reduced the deviations to a level correctable by prisms eventually becoming orthophoric in primary position. The second patient had a severe undercorrection of strabismus after large recess resect procedure on the right eye for large angle exotropia. Five months after surgery, he presented with right eye ptosis and a recurrence of strabismus. He tested positive for anti-acetylcholine receptor antibodies. The ptosis improved with oral steroids and pyridostigmine and he eventually went into a natural remission. The ocular deviation, however, remained unchanged. The emergence of ocular myasthenia in patients undergoing strabismus surgery is a rare occurrence but should be suspected in patients with unexpected outcomes after strabismus surgery.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Pediatric Cranial Nerve Palsies.

International ophthalmology clinics
2026

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics
2026

Selective Nasal Anterior Superior Oblique Tenectomy for the Treatment of Superior Oblique Myokymia.

Journal of binocular vision and ocular motility
2026

Cranial nerve neuropathies: a rare manifestation of cat scratch disease.

BMC infectious diseases
2025

A Ruptured Tri-Lobulated ICA-PCom Aneurysm Presenting with Preserved Neurological Function: Case Report and Clinical-Anatomical Analysis.

Diagnostics (Basel, Switzerland)
2025

Ophthalmoplegia and vision loss in extrapulmonary tuberculosis with bilateral cavernous sinus involvement.

IDCases
2025

Incidence, Clinician Misdiagnosis Rate, Radiologist Missed Diagnosis Rate, and Lesion Distribution of Isolated Medial Longitudinal Fasciculus Infarction: A Retrospective Study.

International journal of general medicine
2025

The Hidden Cavernous Mystery Behind a Headache: A Case Report of Tolosa-Hunt Syndrome.

Cureus
2025

A Rare Presentation of Guillain-Barré Syndrome: A Case Report and Literature Review.

Cureus
2025

Rare oculomotor nerve palsy after interventional treatment of anterior communicating artery aneurysm: A case report.

Medicine
2025

Isolated oculomotor nerve palsy following mild traumatic brain injury: diagnostic challenges and insights from High-Resolution MRI.

Emergency radiology
2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Genes
2025

Strabismus fixus convergens secondary to protracted hydrocephalus.

BMJ case reports
2025

Oculomotor nerve palsy from unruptured cavernous internal carotid artery aneurysms: a case series and report of an anatomical variant.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Neurosarcoidosis With Cranial Nerve Polyneuropathy: A Case Report Highlighting the Potential Role of Serial Systemic Immune-Inflammatory Indices (SSIIi).

Cureus
2026

Ocular Myasthenia Gravis following strabismus surgery and presenting as refractory strabismus.

Strabismus
2025

Periocular Management of Pediatric Facial Nerve Palsy.

American journal of ophthalmology
2025

Transformative Dental Care in Pediatric Moebius Syndrome: Bridging Oral Health and Systemic Management During Prolonged Hospitalization.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

Isolated congenital third nerve ophthalmoplegia due to potential neurovascular conflict of the posterior cerebral artery.

BMJ case reports
2025

Facial reanimation in Moebius syndrome - 25-Year experience in treating bilateral facial paralysis.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2025

Ocular neurolymphomatosis: a case report and systematic review of ocular cranial nerve neurolymphomatosis.

Orbit (Amsterdam, Netherlands)
2025

The Etiology of Moebius Syndrome-Making the Case for Animal Models.

International journal of molecular sciences
2025

Botulinum Toxin Injection in Acute Sixth Nerve Palsy in a 1-Year-Old Child: Case Report, Management Strategy, and Review of Literature.

Romanian journal of ophthalmology
2025

Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal age.

European journal of pediatrics
2025

Biological pathways leading to septo-optic dysplasia: a review.

Orphanet journal of rare diseases
2025

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.

International journal of molecular sciences
2025

Horizontal gaze palsy with ipsilateral esotropia with substituted convergence in a child with medulloblastoma.

Strabismus
2025

Third nerve palsy as first presenting symptom of Guillain-Barre Syndrome spectrum clinical variant.

American journal of ophthalmology case reports
2025

Ocular ischaemic syndrome due to giant cell arteritis.

BMJ case reports
2025

A Rare Guillain-Barré Syndrome Variant with Multi-Ganglioside Reactivity: A Case of Severe Cranial Nerve Involvement.

Revista de neurologia
2025

Pediatric isolated oculomotor nerve palsy induced by peduncular atypical teratoid/rhabdoid tumor: case report and literature review.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Inverse Duane's retraction syndrome: rare presentation of orbital myocysticercosis.

Strabismus
2025

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Brain communications
2025

Isolated oculomotor nerve palsy due to mesencephalic infarction diagnosed by ZOOM DWI.

BMC neurology
2025

Features of myositis and myasthenia gravis in patients treated with immune checkpoint inhibitors: a multicentric, retrospective cohort study.

The Lancet regional health. Europe
2025

Sleep health of adults and children with Moebius syndrome.

Research in developmental disabilities
2025

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

Journal of pediatric endocrinology & metabolism : JPEM
2025

Tolosa-Hunt syndrome in children and adolescents: A systematic review.

Headache
2025

Contralateral oculomotor nerve palsy associated with PHACES syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Successful outcome in synergistic divergence after unilateral lateral rectus recession and medial rectus resection.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Management of Herpes Zoster Ophthalmicus with Optic Neuritis and Cavernous Sinus Involvement: A Case Report.

Ocular immunology and inflammation
2024

Pupil sparing oculomotor nerve palsy with concomitant Horner syndrome as a presentation of mantle cell lymphoma relapse.

BMJ case reports
2025

Galloway-Mowat syndrome with retinal involvement associated with a novel WDR73 variant: case report and review of the literature.

Ophthalmic genetics
2024

Orbital Myositis after Herpes Zoster Ophthalmicus: A Case Report and a Narrative Review of the Literature.

Pathogens (Basel, Switzerland)
2024

Recurrent VI cranial nerve paralysis secondary to idiopathic cavernous sinus pachymeningitis: a case report.

Archivos de la Sociedad Espanola de Oftalmologia
2025

Clinical, laboratory and neuroimaging profile of patient's cohort with septo-optic dysplasia treated at a pediatric university hospital.

Jornal de pediatria
2024

Clinical profile and outcomes in Tolosa-Hunt Syndrome; a systematic review.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2024

Rare Case of Post-Traumatic Abducens-Oculomotor Nerve Synkinesis Exhibiting Unusual Ocular Motility.

The American journal of case reports
2024

A rare case of isolated medial rectus palsy in a young female.

Medical journal, Armed Forces India
2024

Complete Third Nerve Palsy: A Rare Occurrence in Fulminant IIH Case Report.

The Neurohospitalist
2025

Paresis of the Oculomotor Nerve due to Neurovascular Conflict with Superior Cerebellar Artery.

Journal of neurological surgery. Part A, Central European neurosurgery
2024

Through their eyes: Navigating life with limited eyelid closure in patients with Moebius syndrome.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS
2024

Microvascular Decompression for Oculomotor Nerve Palsy Due to Nonaneurysmal Neurovaslur Conflict: 5 Cases Report and Literature Review.

World neurosurgery
2024

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Genes
2024

Exploring Treatments for a Rare Guillain-Barré Variant: A Case Report of Miller-Fisher Syndrome.

Cureus
2024

Duane syndrome associated with Rubinstein-Taybi syndrome type II.

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

A Rare Case of Adult-Onset Bilateral Nonspecific Orbital Inflammation (NSOI) With Concomitant Unilateral Third Cranial Nerve Palsy.

Cureus
2024

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.

Orphanet journal of rare diseases
2024

Isolated unilateral ptosis as a complication of sinusitis: A case report and literature review.

Clinical case reports
2025

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

Annals of clinical and translational neurology
2024

Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

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

Temporal arteritis presenting as third nerve palsy - a case report and review of literature.

Rheumatology international
2025

Clinical features and surgical management of traumatic acquired isolated superior rectus palsy.

European journal of ophthalmology
2024

Joubert syndrome presenting bilateral peroneal neuropathies: A case report.

Medicine
2024

Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Two cases of Duane retraction syndrome with abnormal orbital structures.

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

Right-sided Herpes Zoster Ophthalmicus Complicated by Bilateral Third, Fourth, and Sixth Cranial Nerve Palsies and Syndrome of Inappropriate Antidiuretic Hormone Secretion.

Internal medicine (Tokyo, Japan)
2024

Successful surgical treatment of oculomotor palsy due to schwannoma of the cavernous sinus in a 7-year-old girl: a case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Isolated Inferior Division Oculomotor Nerve Palsy as the First Manifestation of Human Immunodeficiency Virus and Syphilis Co-Infection: A Rare Case Report.

Neuro-ophthalmology (Aeolus Press)
2024

Oral findings and comprehensive dental management of Moebius syndrome: a systematic review.

BMC oral health
2024

Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories.

Pediatric neurology
2024

Oculomotor nerve cavernous malformation: case report and operative video.

Acta neurochirurgica
2024

Medial strabismus (esotropia) at rest associated with contralateral paramedian thalamic ischemic infarction in 2 dogs.

Journal of veterinary internal medicine
2023

Decision-Making in Clival Mass Lesions: Risk Factors for Malignant Disease and an Illustrative Case Example.

Journal of neurological surgery reports
2024

Orbital Fibrotic Band as Cause of Monocular Elevation Deficiency.

Ophthalmic plastic and reconstructive surgery
2024

Recurrence and long-term outcomes of Tolosa-Hunt syndrome.

Journal of neurology
2024

Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish.

Journal of human genetics
2024

Isolated unilateral oculomotor palsy caused by pure midbrain infarction: a case report.

The International journal of neuroscience
2024

Temporal lobe uncal herniation with contralateral superior cerebellar artery infarct.

Journal of forensic sciences
2024

Moebius syndrome and gastroschisis-The second case of a rare association.

American journal of medical genetics. Part A
2023

Ross syndrome with chronic cough and RF positivity: a case report.

Acta neurologica Taiwanica
2023

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

Ophthalmic genetics
2023

Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.

Molecular autism
2023

[Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Neuropediatrics
2023

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2023

Postoperative Third Nerve Palsy after Endoscopic Endonasal Transsphenoidal Surgery for Pituitary Adenoma: Elucidating its Mechanism.

Neurology India
2024

The challenging management of Moebius syndrome using orthodontic camouflage: A case report.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

Bilateral Oculomotor Ocular Neuromyotonia-A Rare Case Due to Nasopharyngeal Carcinoma Radiotherapy.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2023

Clinical Features of Pituitary or Parasellar Tumor Onset with Cranial Nerve Palsy: Surgical Intervention Considerations.

World neurosurgery
2023

Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.

Fetal diagnosis and therapy
2023

Is Guillain-Barre syndrome following chickenpox a parainfectious disease? A case report and literature review.

BMC neurology
2024

Anti-Ri paraneoplastic neurological syndrome presenting with bilateral cranial nerve VI palsy and jaw dystonia-a distinctive syndrome within the anti-Ri spectrum? : Case report and literature review.

Wiener medizinische Wochenschrift (1946)
2023

Orbital leiomyoma presenting as inverse globe retraction syndrome: a unique presentation of a rare disease.

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

Surgical approach for traumatic chiasmal syndrome and complete third nerve palsy following severe head trauma.

BMJ case reports
2023

Electrophysiology of ataxia-telangiectasia-like disorder 1.

Sudanese journal of paediatrics
2022

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

BMC pediatrics
2023

Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease.

Neuropediatrics
2022

Benedikt syndrome in a 74-year-old hypertensive woman: A case report.

Clinical case reports
2022

A rare cause of pediatric oculomotor nerve palsy: neurobrucellosis.

Heliyon
2022

Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.

Orphanet journal of rare diseases
2022

Supernumerary Extraocular Muscle: A Rare Cause of Atypical Restrictive Strabismus.

Medicina (Kaunas, Lithuania)
2023

Wildervanck syndrome: clinical case report.

Archivos argentinos de pediatria
2023

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2023

Alternating adduction hypertropia as a rare presentation of midbrain hemorrhage.

Journal of neurology
2022

Difficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report.

BMC anesthesiology
2022

Delineating septo-optic dysplasia.

Birth defects research
2022

Oculomotor nerve palsy in neurofibromatosis type 2.

Radiology case reports
2022

CD20-positive subcutaneous panniculitis-like T-cell lymphoma presenting as polycranial neuropathy: A CARE-compliant case report and literature review.

Medicine
2022

Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.

European journal of neurology
2022

A Case Report on a Unique Explanation for Headache With Ophthalmoplegia: The Tolosa-Hunt Syndrome.

Cureus
2022

Recurrent Painful Ophthalmoplegic Neuropathy with Unilateral Oculomotor and Trochlear Nerve Palsy in an 8-year-old Girl.

Journal of binocular vision and ocular motility
2022

[Septo optic dysplasia plus: about a case].

The Pan African medical journal
2022

Recurrent Painful Ophthalmoplegic Neuropathy in an Adult Patient: A Case Report With Literature Review.

Cureus
2024

Bilateral enlargement of all extraocular muscles: a presenting ophthalmic sign of hematologic malignancy.

Orbit (Amsterdam, Netherlands)
2021

Abduction Deficit Mimicking Sixth Nerve Palsy due to Metastasis in Systemic Malignancy: Rare Case Report.

Middle East African journal of ophthalmology
2022

[A case of Coexistent Persistent Trigeminal and Hypoglossal Arteries Manifested with Neurovascular Compression Syndrome by Hypertension].

Brain and nerve = Shinkei kenkyu no shinpo
2022

[Claude syndrome: Incomplete third cranial nerve palsy and contralateral ataxia].

Medicina
2022

[Ophthalmic complications of endoscopic sinus surgery].

Vestnik oftalmologii
2022

Surgical Management of Pre-Chiasmatic Intraorbital Optic Nerve Gliomas in Children after Loss of Visual Function-Resection from Bulbus to Chiasm.

Children (Basel, Switzerland)
2023

Incomplete Third Nerve Palsy Due to a Carotid-Cavernous Fistula.

The neurologist
2022

Hypopituitarism and cranial nerve involvement mimicking Tolosa-Hunt syndrome as the initially presenting feature of diffuse large B-cell lymphoma: a case report.

BMC endocrine disorders
2022

Post-traumatic Oculomotor Nerve Palsy due to Intraneural Hemorrhage: A Case Report.

Neurology India
2022

Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins.

Journal of binocular vision and ocular motility
2023

Post-COVID simultaneous onset of Graves' disease and ocular myasthenia gravis in a patient with a complex ocular motility impairment.

European journal of ophthalmology
2022

A long-term survival case with proton beam therapy for advanced sphenoid sinus cancer with hypopituitarism.

International cancer conference journal
2021

A Case of Invasive Sphenoid Sinus Aspergillosis Presenting as Oculomotor Nerve Palsy in a Healthy Patient.

NMC case report journal
2022

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Archivos de la Sociedad Espanola de Oftalmologia
2021

Febrile episode unmasking neuropsychiatric systemic lupus erythematosus with lytic lesions caused by secondary autoimmune myelofibrosis: Case report.

Medicine
2022

Bevacizumab-induced isolated oculomotor nerve palsy in glioblastoma multiforme.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2021

Immunoglobulin G4-related disease of the cavernous sinus with orbit invasion - A case report.

Surgical neurology international
2022

Oculomotor nerve schwannoma: case series and literature review.

Survey of ophthalmology
2022

Flow diversion for internal carotid artery aneurysms with compressive neuro-ophthalmologic symptoms: clinical and anatomical results in an international multicenter study.

Journal of neurointerventional surgery
2022

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

American journal of medical genetics. Part A
2021

Recurrent painful ophthalmoplegic neuropathy: a cause for recurrent third nerve palsy in a child.

BMJ case reports
2021

Rare presentation of sarcoidosis with optic neuropathy and third nerve palsy.

BMJ case reports
2021

Bilateral carotid cavernous fistula after trauma: a case report and literature review.

Chinese neurosurgical journal
2021

Splenogonadal fusion associated with Moebius and Poland syndromes: first case reported.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2022

[Paraneoplastic ophthalmopathies].

Journal francais d'ophtalmologie
2021

Neuromyelitis optica with brain stem involvement in a middle-aged Ethiopian woman: a case report and review of literature.

Journal of medical case reports
2022

Large sphenoid mucocele presenting with cranial neuropathies in a 10-year-old boy: case report and literature review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Herpes Simplex Virus-2 Meningoencephalitis With Abducens Nerve Palsy With Literature Review.

Cureus
2021

Delayed oculomotor nerve palsy associated with a ruptured anterior communicating aneurysm: Case report.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2024

Inverse Marcus Gunn jaw winking phenomenon: a rare inhibitory synkinesis.

Orbit (Amsterdam, Netherlands)
2021

Septo-Optic Dysplasia with Cerebellar Hemiagenesis: A Rare Congenital Malformation.

Neurology India
2021

Isolated oculomotor nerve palsy secondary to acute sinusitis.

The journal of the Royal College of Physicians of Edinburgh
2021

Transient oculomotor paralysis after cerebral angiography: A case report.

Medicine
2021

Ocular neuromyotonia caused by a recurrent sphenoidal ridge meningioma.

Surgical neurology international
2021

Varied presentations of congenital ocular synkinesis: do they all fit congenital cranial dysinnervation disorder spectrum?

Arquivos brasileiros de oftalmologia
2021

Disorders of the Fourth Cranial Nerve.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2021

The phenotypic spectrum associated with OTX2 mutations in humans.

European journal of endocrinology
2021

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Ophthalmic genetics
2021

Oculomotor Paresis with Cyclic Spasms in Chinese Populations: A Review of the Chinese Literature and a Case Report.

Pediatric neurosurgery
2021

Compressive optic neuropathy (CON) in Graves' disease caused by hypertrophy of levator and superior rectus muscles: A case report.

Medicine
2021

The epidemiology of Moebius syndrome in Italy.

Orphanet journal of rare diseases
2021

Isolated third cranial nerve palsy as the first presentation of multiple myeloma.

BMJ case reports
2020

A rare case of orbital myositis.

Journal of Ayub Medical College, Abbottabad : JAMC
2021

Early Recurrence of an Infantile Endodermal Oculomotor Nerve Cyst following Surgical Fenestration: A Case Report.

Pediatric neurosurgery
2021

Postpartum Recovery From Meningioma-Related Oculomotor Palsy.

Obstetrics and gynecology
2021

Pseudo-Duane retraction syndrome after orbital myositis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2021

Variant types of Duane retraction syndrome: synergistic divergences and convergences.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2021

Adie-Holmes syndrome associated with COVID-19 infection: A case report.

Indian journal of ophthalmology
2021

Masquerading Guillain-Barré syndrome: uncommon, in-hospital presentation of Miller-Fisher syndrome shadowed by secondary diseases.

BMJ case reports
2021

Tolosa-Hunt Syndrome Misdiagnosed as Surgical Complication After Frontal Balloon Sinuplasty.

The Journal of craniofacial surgery
2021

A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita.

Strabismus
2021

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.

Journal of molecular medicine (Berlin, Germany)
2021

Acute Complete Oculomotor Nerve Palsy in a Young Male Due to a Skull Base Myofibroma.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2021

Sinus Arrest and Bradycardia Induced by Carotid Baroreceptor Reflex Activation during Rotational Angiography: A Case Report.

Journal of neuroendovascular therapy
2020

Isolated contralateral abducens palsy in direct carotid-cavernous fistula.

BMJ case reports
2021

A Rare Case of Oculomotor Nerve Palsy after Endovascular Treatment in a Patient with Internal Carotid Artery Dissection.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2021

A Presentation of Pediatric Sjögren's Syndrome with Abducens Nerve Palsy.

Neuropediatrics
2021

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Ophthalmic genetics
2020

Isolated Oculomotor Nerve Palsy - A Rare Initial Manifestation of Tuberculous Meningitis.

The Journal of the Association of Physicians of India
2020

Nasopharyngeal B-cell lymphoma with pan-hypopituitarism and oculomotor nerve palsy: a case report and review of the literature.

BMC endocrine disorders
2021

A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.

American journal of medical genetics. Part A
2023

Glioblastoma multiforme with oculomotor nerve involvement: case report and literature review.

British journal of neurosurgery
2020

Ocular neuromyotonia of the right third cranial nerve.

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

Third Cranial Nerve Palsy Presenting with Unilateral Diplopia and Strabismus in a 24-Year-Old Woman with COVID-19.

The American journal of case reports
2021

Ankyloglossia Superior Syndrome With Complex Craniofacial Anomalies: Case Report and Literature Review.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

Skull Base Metastasis of Breast Cancer With Oculomotor and Trochlear Nerve Palsy.

Ear, nose, & throat journal
2020

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

Journal of intellectual disability research : JIDR
2021

Review of the MRI brain findings of septo-optic dysplasia.

Clinical radiology
2021

A Rare Intracranial Collision Tumor of Meningioma and Metastatic Uterine Adenocarcinoma: Case Report and Literature Review.

World neurosurgery
2023

Posterior communicating artery infundibulum with oculomotor nerve palsy treated with microvascular decompression: a case report and 2-dimensional technical operative video.

British journal of neurosurgery
2020

Differential Diagnosis of Acquired Esotropia in the Elderly.

Klinische Monatsblatter fur Augenheilkunde
2020

A Case of Meningioma Originating from the Oculomotor Nerve.

World neurosurgery
2020

Fatal high-grade skull osteosarcoma 30 years following radiotherapy for Cushing's disease.

Endocrinology, diabetes & metabolism case reports
2021

A Case of Recurrent Painful Ophthalmoplegic Neuropathy Successfully Treated with Beta-blocker Eye Drop Instillation.

Neuro-ophthalmology (Aeolus Press)
2020

Plus-minus lid syndrome with ataxia and severe apathy-A rare manifestation of midbrain infarct.

Journal of postgraduate medicine
2020

Tonic pupil caused by adenoid cystic carcinoma versus postradiation changes to the ciliary ganglion.

BMJ case reports
2020

Sixth cranial nerve palsy secondary to compression by dolichoectatic vertebrobasilar artery.

BMJ case reports
2021

Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

International journal of environmental research and public health
2020

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

American journal of medical genetics. Part A
2020

Septo-optic dysplasia with fovea plana: A case report.

European journal of ophthalmology
2020

The oculomotor neurovascular conflict: Literature review and proposal of management.

Clinical neurology and neurosurgery
2020

The rare phenomenon of Marcus-Gunn jaw winking without ptosis: Report of 14 cases and review of the literature.

Indian journal of ophthalmology
2021

Isolated Oculomotor Nerve Palsy in Takayasu Arteritis-A Rare Complication.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases

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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. Pediatric Cranial Nerve Palsies.
    International ophthalmology clinics· 2026· PMID 41870108mais citado
  2. Update on Congenital Cranial Dysinnervation Disorders (CCDDs).
    International ophthalmology clinics· 2026· PMID 41870107mais citado
  3. Selective Nasal Anterior Superior Oblique Tenectomy for the Treatment of Superior Oblique Myokymia.
    Journal of binocular vision and ocular motility· 2026· PMID 41773485mais citado
  4. Cranial nerve neuropathies: a rare manifestation of cat scratch disease.
    BMC infectious diseases· 2026· PMID 41580648mais citado
  5. Ocular Myasthenia Gravis following strabismus surgery and presenting as refractory strabismus.
    Strabismus· 2026· PMID 40598873mais citado
  6. Rare oculomotor nerve palsy after interventional treatment of anterior communicating artery aneurysm: A case report.
    Medicine (Baltimore)· 2025· PMID 41204585recente
  7. Isolated oculomotor nerve palsy following mild traumatic brain injury: diagnostic challenges and insights from High-Resolution MRI.
    Emerg Radiol· 2025· PMID 41177833recente
  8. The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.
    Genes (Basel)· 2025· PMID 41153399recente
  9. Oculomotor nerve palsy from unruptured cavernous internal carotid artery aneurysms: a case series and report of an anatomical variant.
    J Clin Neurosci· 2025· PMID 40803188recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98685(Orphanet)
  2. MONDO:0001309(MONDO)
  3. GARD:19544(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1723331(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

Paralisia oculomotora
Compêndio · Raras BR

Paralisia oculomotora

ORPHA:98685 · MONDO:0001309
CID-10
H49.3 · Oftalmoplegia total (externa)
MedGen
UMLS
C0029089
Wikidata
Wikipedia
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