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Síndrome Cogan
ORPHA:1467CID-10 · H16.3CID-11 · 4A44.YDOENÇA RARA

A Síndrome de Cogan (SC) é uma doença autoimune rara, de causa desconhecida. Ela se caracteriza por uma inflamação nos olhos (principalmente na córnea, chamada ceratite intersticial) e por problemas no ouvido e no equilíbrio, como perda súbita da audição, zumbido e tontura intensa (vertigem). Isso ocorre quando os exames para sífilis dão negativo. A doença tem um risco variável de se espalhar e afetar outros órgãos do corpo (se tornar uma doença sistêmica). Sintomas que afetam o corpo todo podem surgir em mais de 70% dos casos.

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Introdução

O que você precisa saber de cara

📋

A Síndrome de Cogan (SC) é uma doença autoimune rara, de causa desconhecida. Ela se caracteriza por uma inflamação nos olhos (principalmente na córnea, chamada ceratite intersticial) e por problemas no ouvido e no equilíbrio, como perda súbita da audição, zumbido e tontura intensa (vertigem). Isso ocorre quando os exames para sífilis dão negativo. A doença tem um risco variável de se espalhar e afetar outros órgãos do corpo (se tornar uma doença sistêmica). Sintomas que afetam o corpo todo podem surgir em mais de 70% dos casos.

Publicações científicas
149 artigos
Último publicado: 2026 Apr 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.15
Worldwide
Casos conhecidos
300
pacientes catalogados
Início
Adolescent
+ adult, childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H16.3
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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

👁️
Olhos
5 sintomas
👂
Ouvidos
3 sintomas
🩸
Sangue
3 sintomas
❤️
Coração
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Ceratite
Muito frequente (99-80%)
90%prev.
Acuidade visual reduzida
Muito frequente (99-80%)
90%prev.
Fotofobia
Muito frequente (99-80%)
90%prev.
Função vestibular anormal
Muito frequente (99-80%)
90%prev.
Zumbido
Muito frequente (99-80%)
90%prev.
Vertigem
Muito frequente (99-80%)
20sintomas
Muito frequente (6)
Frequente (6)
Ocasional (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

CeratiteKeratitis
Muito frequente (99-80%)90%
Acuidade visual reduzidaReduced visual acuity
Muito frequente (99-80%)90%
FotofobiaPhotophobia
Muito frequente (99-80%)90%
Função vestibular anormalAbnormal vestibular function
Muito frequente (99-80%)90%
ZumbidoTinnitus
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico149PubMed
Últimos 10 anos200publicações
Pico201925 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2019Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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.
2Fase 21
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 — Síndrome Cogan

🗺️

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

8 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
70 papers (10 anos)
#1

Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

International journal of molecular sciences2026 Jan 29

This study describes the clinical and genetic features of Meesmann epithelial corneal dystrophy (MECD) in two unrelated families and reports new genotype-phenotype associations. Ten patients from a Lebanese family (n = 4) (Family 1) and a Spanish family (n = 6) (Family 2) underwent ophthalmologic evaluation, in vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with epithelial thickness mapping (ET-map), and targeted next-generation sequencing (NGS) using a custom-designed 133-gene panel associated with anterior segment dystrophies. In Family 1, a novel homozygous KRT12 c.1181T>C (p.Leu394Pro) variant was identified in the symptomatic proband and his clinically asymptomatic brother, while both parents, who were first cousins, were heterozygous for this nucleotide variant. The proband also carried the heterozygous KRT3 c.250C>T (p.Arg84Trp) variant, which has been previously reported but, to our knowledge, has not been described in co-occurrence until now. In addition, the proband showed a complex phenotype with signs of MECD and epithelial basal membrane alterations consistent with epithelial basement membrane dystrophy (EBMD). In Family 2, four affected members carried the KRT3 c.1492G>A (p.Glu498Lys) variant in heterozygosity, which has been previously described. The elderly members affected showed typical signs of MECD and EBMD. To our knowledge, these concomitant alterations have not been previously described with genetical confirmation. In conclusion, this study provides the first evidence that the co-occurrence of variants in two Meesmann corneal dystrophy-associated genes (KRT3 and KRT12) can jointly account for the disease phenotype. We also highlight the association of MECD with EBMD in both families. Characterization using IVCM and AS-OCT ET-Map provides a deeper understanding of the morphological changes and phenotypic variability in MECD, confirming the utility of this multimodal imaging approach for diagnosis and management. Cogan syndrome is a rare systemic vasculitis characterized by inflammation of the inner ear and eyes. Baumgartner and Morgan first described the condition in 1934 as non–syphilitic interstitial keratitis associated with vestibular dysfunction in a patient with Ménière disease. Dr David G. Cogan later defined it as a distinct clinical entity in 1947. The diagnosis of Cogan syndrome is one of exclusion. This condition typically affects young adults in their second or third decade of life. The proposed pathogenesis involves autoantibodies directed against antigens in the cornea, inner ear, and vascular endothelium.  Cogan syndrome is classified into typical and atypical forms. Typical Cogan syndrome is defined by the onset of ophthalmologic and audiovestibular symptoms within 2 years of each other, usually within 3 to 90 days. Atypical Cogan syndrome is diagnosed when this interval exceeds 2 years. Systemic manifestations may include fever, arthralgias, myalgias, arthritis, headache, and aortitis. Cogan syndrome is generally managed with corticosteroids to reduce the frequency and severity of flares and prevent irreversible complications such as sensorineural hearing loss, vestibular dysfunction, blindness, and cardiovascular involvement. Progressive or refractory cases may require biologic or immunomodulatory therapy, and severe cases may need surgical intervention.

#2

Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.

International ophthalmology2026 Jan 07

To investigate wavefront aberrations, as well as corneal optical densitometry (COD), in eyes with epithelial basement membrane dystrophy (EBMD) and the influence on visual acuity. In this cross-sectional study, 70 eyes of 70 patients (mean age 55.9 ± 14.0 years) with the central cornea involving EBMD were compared to 50 healthy eyes of 50 patients (mean age 58.8 ± 14.1 years) serving as controls. Wavefront aberrations of the anterior corneal surface and the total cornea were measured with the Pentacam AXL (Oculus Optikgeräte GmbH, Wetzlar, Germany), and calculated for the 6 mm central corneal zone. In addition, the COD (corneal light backscatter measured in grey scale units) of the anterior 120 µm of the central 0-2 mm, 2-6 mm, and 6-10 mm of the cornea was evaluated. Corrected distance visual acuity (CDVA) was correlated with wavefront aberrations and COD using Spearman correlation analysis. EBMD resulted in significant higher peak-to-valley (PTV; median: 15.0 [interquartile range: 9] µm), square root of the sum of the squared higher-order aberrations (RMS-HOA; 0.77 [0.52] µm), astigmatism (1.06 [1.04] µm), coma (0.41 [0.44] µm), and trefoil (0.28 [0.40] µm) (all p ≤ 0.01). A moderate correlation was found especially between CDVA and PTV as well as RMS-HOA. EBMD led to a statistically significant higher COD (p < 0.01) in the central corneal 6-mm and correlated moderately with CDVA outcomes. Our study revealed a significant correlation between elevated wavefront aberrations and backscattering in eyes affected by epithelial basement membrane dystrophy. While COD demonstrates potential for diagnostic purposes, additional studies are necessary to ascertain its specificity and distinguish EBMD from other ocular surface disorders.

#3

Atypical Cogan's syndrome with delayed auditory and ocular manifestations.

BMJ case reports2025 Aug 27

A woman in her 20 s with a remote history of chronic iritis and bilateral sensorineural hearing loss presented with proptosis, eye pain, blurred vision and elevated intraocular pressures. Her medical history was significant for end-stage renal disease and congestive heart failure. Imaging was limited due to cochlear implants and a cardioverter defibrillator. Infectious and autoimmune investigations were negative. After initial management with topical pressure-lowering drops, she was started on systemic corticosteroids with rapid improvement in visual acuity and resolution of symptoms. The diagnosis of atypical Cogan syndrome was made by exclusion, based on her exam findings, ocular and auditory history, systemic features and positive clinical response to treatment. This case highlights the diagnostic challenges of atypical Cogan syndrome, particularly in the setting of delayed symptom onset and systemic involvement. Early recognition is essential, as timely corticosteroid therapy may prevent irreversible vision and hearing loss.

#4

Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.

Journal of clinical neurology (Seoul, Korea)2025 Jan
#5

Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.

Epidemiologia (Basel, Switzerland)2025 Aug 07

Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04-0.59]/p = 0.004, 0.09 [95% CI 0.01-0.62]/p = 0.008 and 0.23 [95% CI 0.06-0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC102 artigos no totalmostrando 196

2026

Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.

International journal of molecular sciences
2026

Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.

International ophthalmology
2025

Atypical Cogan's syndrome with delayed auditory and ocular manifestations.

BMJ case reports
2025

Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.

Epidemiologia (Basel, Switzerland)
2025

Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.

Oxford medical case reports
2025

Overlap Syndrome of Cogan's and Tubulointerstitial Nephritis and Uveitis (TINU) in a Case with Uveitis, Hearing Loss, and Kidney Involvement.

Ocular immunology and inflammation
2025

Bálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.

Clinical neuropharmacology
2025

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Cerebellum (London, England)
2025

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Molecular medicine (Cambridge, Mass.)
2025

Cogan's syndrome. A comprehensive review.

European journal of internal medicine
2025

[Challenges of differential diagnosis in the verification of Behçet's disease with neurological manifestations].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

[COGAN SYNDROME - CASE PRESENTATION WITH PROGRESSIVE OCULAR INVOLVEMENT].

Harefuah
2025

A rare case of aggressive pyoderma gangrenosum with Cogan syndrome in a person with skin of colour.

Skin health and disease
2025

Managing Complex Coronary Revascularization of Acute Coronary Syndrome During Cogan Syndrome.

JACC. Case reports
2025

Beyond Eyes and Ears: Inflammation Provoking Infarction in Cogan Syndrome.

JACC. Case reports
2025

The Role of 18 F-FDG PET/CT Combined With MPI in Cogan's Syndrome With Multiple Arteritis and Coronary Involvement: A Case Report.

Clinical nuclear medicine
2024

Case Report: Atypical post-COVID Cogan's syndrome.

F1000Research
2025

Clinical significance of endolymphatic hydrops on MRI in Cogan's syndrome: a case series of five patients.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.

Journal of clinical neurology (Seoul, Korea)
2024

Multidisciplinary unravelling Cogan's syndrome post-C-section: insights into diagnosis, treatment and a possible identified new trigger.

BMJ case reports
2025

First Reported Case of atypical Cogan's Syndrome in Central America.

Archivos de la Sociedad Espanola de Oftalmologia
2024

Atypical Cogan syndrome: a case report.

Journal of medical case reports
2025

French protocol for diagnosis and management of Cogan's syndrome.

La Revue de medecine interne
2024

Rare primary vasculitis: update on multiple complex diseases and the new kids on the block.

Advances in rheumatology (London, England)
2024

A Case of Bilateral Retinal Vasculitis in Atypical Cogan Syndrome.

Cureus
2024

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Pediatric neurology
2025

Audiovestibular outcomes in adult patients with cogan syndrome: a systematic review.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2024

Anterior STEMI in a 25-year-old with Cogan syndrome.

Journal of cardiology cases
2024

Temporal Bone Histopathology of Atypical Cogan Syndrome.

The Laryngoscope
2024

Cogan-Like Syndrome Following Nivolumab Immunotherapy for Metastatic Cutaneous Melanoma.

Ocular immunology and inflammation
2024

Discontinuation of infliximab leading to auditory loss in a patient with Cogan syndrome: A case report.

Joint bone spine
2024

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.

Movement disorders clinical practice
2024

Multi-Modality Imaging in Vasculitis.

Diagnostics (Basel, Switzerland)
2024

Neuro-ophthalmic challenges and multi-morbidity in vasculitis among the older adults.

Expert review of clinical immunology
2024

Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.

Parkinsonism &amp; related disorders
2024

Potential causal association between leisure sedentary behaviors and osteoporosis: A two-sample Mendelian randomization analysis.

Medicine
2024

A pediatric case of Cogan's syndrome with tubulointerstitial nephritis and vasculitis: lessons for the clinical nephrologist.

Journal of nephrology
2024

Tocilizumab Successfully Treating Refractory Hearing Impairment in a Patient With Cogan Syndrome: A Case Report and Review of the Literature.

Ear, nose, &amp; throat journal
2024

Clinical outcomes of epithelial basement membrane dystrophy after keratorefractive lenticule extraction.

Journal of cataract and refractive surgery
2024

Atypical Cogan's syndrome: A case report.

Journal francais d'ophtalmologie
2024

[Behçet's and Cogan's syndromes - The Variable Vessel Vasculitides].

Laryngo- rhino- otologie
2023

Paediatric Cogan Syndrome masquerading as IgA vasculitis.

Modern rheumatology case reports
2023

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.

Journal of lipid research
2023

Cogan syndrome: a case report and review of the literature.

Digital journal of ophthalmology : DJO
2023

The causal effect of schizophrenia on fractures and bone mineral density: a comprehensive two-sample Mendelian randomization study of European ancestry.

BMC psychiatry
2023

Cogan Syndrome: A Case Study and Review of the Literature.

Ear, nose, &amp; throat journal
2023

Speech reception after cochlear implantation for Cogan's syndrome: Case series following CARE guidelines.

European annals of otorhinolaryngology, head and neck diseases
2023

Target temperature in post-arrest comatous patients. Is something changed in the postpandemic era?

The American journal of emergency medicine
2023

Paediatric Cogan´s syndrome - review of literature, case report and practical approach to diagnosis and management.

Pediatric rheumatology online journal
2023

Cogan syndrome following SARS-COV-2 infection.

Clinical rheumatology
2023

Teaching Video NeuroImage: Oculomotor Apraxia as the Only Presentation of Diffuse Intrinsic Pontine Glioma.

Neurology
2023

Cogan's syndrome is more than just keratitis: a case-based literature review.

BMC ophthalmology
2023

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Orphanet journal of rare diseases
2023

[Epithelial basement membrane corneal dystrophy: A case report].

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2023

Atypical Cogan's Syndrome with Large-vessel Vasculitis Successfully Treated with Tocilizumab.

Internal medicine (Tokyo, Japan)
2023

Cogan syndrome: A challenging diagnosis.

Journal francais d'ophtalmologie
2022

Partial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma.

Neurocase
2023

Anterior Segment Swept Source Optical Coherence Tomography and In Vivo Confocal Microscopy Findings in a Case With Bleb-Like Epithelial Basal Membrane Dystrophy.

Cornea
2024

Persistence of Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia): An Update on a Young Adult.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2023

Intrathecal injection of methotrexate combined with dexamethasone for Cogan's syndrome with neurological involvement: A case report and literature review.

International journal of rheumatic diseases
2023

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.

European journal of medical genetics
2023

Report of 2 pediatric cases with atypical Cogan's syndrome and a systematic review.

International journal of rheumatic diseases
2022

[Clinical and morphological characteristics of corneal epithelial dystrophy (clinical observations)].

Vestnik oftalmologii
2022

[Non-infectious diseases of the aorta and large arteries].

Terapevticheskii arkhiv
2022

[Vertigo and ocular inflammation: Cogan syndrome].

Nederlands tijdschrift voor geneeskunde
2022

Posterior Scleritis: A Unique Sequela of Cogan Syndrome.

Rhode Island medical journal (2013)
2023

Snakebite envenomation-induced posterior reversible encephalopathy syndrome presenting with Bálint syndrome.

Neurologia
2022

Bowman Layer Onlay Graft for Recurrent Corneal Erosions in Map-Dot-Fingerprint Dystrophy.

Cornea
2023

RETINAL CHANGES IN PORETTI-BOLTSHAUSER SYNDROME: RETINA AS A WINDOW TO THE BRAIN.

Retinal cases &amp; brief reports
2022

High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.

Ophthalmic genetics
2022

Acute Limb Ischemia in Cogan Syndrome.

The American journal of case reports
2022

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Movement disorders : official journal of the Movement Disorder Society
2022

[Atypical Cogan syndrome as a differential diagnosis of sudden sensorineural hearing loss].

HNO
2022

Autoimmune Vestibulopathy-A Case Series.

Brain sciences
2022

[Phototherapeutic keratectomy for epithelial basement membrane dystrophy : Impact of excimer laser systems used on the changes of visual acuity, refraction and astigmatism].

Die Ophthalmologie
2022

NPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder.

Journal of neurology
2023

Phototherapeutic keratectomy versus epithelial debridement combined with anterior stromal puncture or diamond burr for recurrent corneal erosions.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2022

Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.

Journal of pediatric ophthalmology and strabismus
2022

Acute ischemic stroke in a patient with Cogan's syndrome.

Journal of integrative neuroscience
2022

Case 4-2022: A 55-Year-Old Man with Bilateral Hearing Loss and Eye Redness.

The New England journal of medicine
2022

A rare case of atypical Cogan's syndrome presenting as encephalitis.

Modern rheumatology case reports
2023

Delayed Diagnosis of Childhood-Onset Huntington Disease in an 8-Year-Old Boy With Ocular Motor Apraxia.

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

A case report of a severe form of cogan syndrome.

Annals of medicine and surgery (2012)
2022

Cogan Syndrome with Aortic Regurgitation and Multiple Vasculopathy.

Internal medicine (Tokyo, Japan)
2021

A Case of Atypical Cogan's Syndrome Associated with Reversible Cerebral Vasoconstriction Syndrome.

Neurology India
2021

Cogan syndrome masquerading as corneal ectasia.

American journal of ophthalmology case reports
2022

Atypical Cogan's Syndrome Mimicking Giant Cell Arteritis Successfully Treated with Early Administration of Tocilizumab.

Internal medicine (Tokyo, Japan)
2021

Selected Otologic Disorders Causing Dizziness.

Continuum (Minneapolis, Minn.)
2022

Combination Cataract Extraction, Goniotomy, Ahmed Valve and Retrobulbar tube in a patient with bilateral Uveitic Glaucoma and Cogan's Syndrome.

Journal of the National Medical Association
2022

Balint's syndrome revealing Creutzfeldt-Jakob disease.

Revue neurologique
2021

Spectrum and Outcome of Noninfectious Aortitis.

The Journal of rheumatology
2021

A Case of Balint Syndrome Due to Left Basal Ganglia Hemorrhagic Stroke: Exploring the Pathogenesis Through Parietal Lobe Circuits.

The primary care companion for CNS disorders
2022

Integrating visual search, eye movement training and reversing prism exposure in the treatment of Balint-Holmes syndrome: a single case report.

Topics in stroke rehabilitation
2021

Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020

Case Report: Effective and Safe Treatment With Certolizumab Pegol in Pregnant Patients With Cogan's Syndrome: A Report of Three Pregnancies in Two Patients.

Frontiers in immunology
2019

Cogan syndrome: An autoimmune eye and ear disease with systemic manifestations.

The National medical journal of India
2021

Poretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration.

Ophthalmic genetics
2020

Assessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy.

PloS one
2021

Clinical and Histological Characterization of Toxic Keratopathy From Depatuxizumab Mafodotin (ABT-414), an Antibody-Drug Conjugate.

Cornea
2020

Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area.

Neurocase
2021

Successful treatment of Cogan's syndrome with tocilizumab.

Scandinavian journal of rheumatology
2020

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.

Movement disorders : official journal of the Movement Disorder Society
2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Cogan Reese Syndrome, a Unilateral Puzzling Cause of Secondary Glaucoma.

Ophthalmology. Glaucoma
2020

[Syncope, pain in the large joints, and painful swelling of the right eye in a 51-year-old patient : Pitfalls in the diagnosis and treatment of a rare disease].

Der Internist
2021

Atypical Cogan Syndrome Featuring Orbital Myositis and Dacryoadenitis.

Ophthalmic plastic and reconstructive surgery
2021

Teaching Video NeuroImages: Posterior Cortical Atrophy Presenting With Balint Syndrome.

Neurology
2021

Aseptic Liver Abscesses as an Exceptional Finding in Cogan's Syndrome.

Hepatology (Baltimore, Md.)
2020

Neck pain, red eyes and hearing loss.

Rheumatology (Oxford, England)
2021

Cogan syndrome: Descriptive analysis and clinical experience of 7 cases diagnosed and treated in two third level hospitals.

Reumatologia clinica
2020

Cogan's Syndrome: Clinical Presentations and Update on Treatment.

Current allergy and asthma reports
2020

Familial HLA-B*52 Vasculitis: Maternal, Atypical Cogan's Syndrome with Takayasu Arteritis-mimicking Aortitis and Filial Takayasu Arteritis.

Internal medicine (Tokyo, Japan)
2022

OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY.

Retinal cases &amp; brief reports
2019

Clinical Presentation of Ataxia-Telangiectasia.

Archives of Iranian medicine
2019

Off-label application of intravenous immunoglobulin (IVIG) for treatment of Cogan's syndrome during pregnancy.

BMJ case reports
2019

[Screening for ocular involvement in deaf children].

The Pan African medical journal
2019

Teaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome.

Neurology
2021

Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy.

European journal of ophthalmology
2019

Nail Lichen Planus in a Patient with Cogan Syndrome: Report of a Case and Discussion.

Case reports in dermatology
2019

Hepatic vasculitis mimicking multiple liver abscesses in Cogan's Syndrome.

Acta reumatologica portuguesa
2019

Pearls & Oy-sters: Cogan syndrome: A potentially grave disorder of audiovestibulopathy with many faces.

Neurology
2019

Aortic valve perforation in the setting of Cogan's syndrome.

Echocardiography (Mount Kisco, N.Y.)
2019

Efficacy of a Topical Heparan Sulfate Mimetic Polymer on Ocular Surface Discomfort in Patients with Cogan's Epithelial Basement Membrane Dystrophy.

Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics
2019

Combination of olfactory aplasia and congenital ocular motor apraxia: a previously unreported association.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2019

Interstitial keratitis diagnosis and treatment.

Journal francais d'ophtalmologie
2019

Cogan's syndrome: new therapeutic approaches in the biological era.

Expert opinion on biological therapy
2019

[Cogan syndrome with audiovestibular disfunction: 2 cases report].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2019

A CARE-compliant article: optical coherence tomography for epithelial basement membrane dystrophy: A case report.

Medicine
2019

Refractive surprise after routine cataract surgery with multifocal IOLs attributable to corneal epithelial basement membrane dystrophy.

Journal of cataract and refractive surgery
2019

Immune-mediated conditions affecting the brain, eye and ear (BEE syndromes).

Journal of neurology, neurosurgery, and psychiatry
2019

Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2019

Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2019

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Reproductive biomedicine online
2019

A new MRI marker of ataxia with oculomotor apraxia.

European journal of radiology
2018

[Beethoven and Cogan syndrome].

Revista medica de Chile
2019

An unusual case of post-cochlear implant performance degradation in a patient with suspected Cogan's syndrome.

Cochlear implants international
2019

The utility of a normal tear osmolarity test in patients presenting with dry eye disease like symptoms: A prospective analysis.

Contact lens &amp; anterior eye : the journal of the British Contact Lens Association
2018

Cutaneous Vasculitis in Cogan's Syndrome: A Report of Two Cases Associated with Chlamydia Infection.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2018

Art is long, life is short. Francisco José de Goya y Lucientes (1746-1828), the suffering artist.

Medical hypotheses
2018

Cogan's syndrome with pyoderma gangrenosum: management of two uncommon disorders with aggressive presentation in a patient.

BMJ case reports
2018

[Recurrent Corneal Erosions in Epithelial Corneal Dystrophies].

Klinische Monatsblatter fur Augenheilkunde
2018

Fever of unknown origin: a challenging case.

BMJ case reports
2018

Autoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome.

Journal of immunology research
2018

Fever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome.

BMJ case reports
2018

Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.

Parkinsonism &amp; related disorders
2018

Pearls & Oy-sters: Ocular motor apraxia as essential differential diagnosis to supranuclear gaze palsy: Eyes up.

Neurology
2018

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

Clinical genetics
2018

Interstitial Keratitis in Cogan's Syndrome.

The New England journal of medicine
2017

Cogan's syndrome - A rare aortitis, difficult to diagnose but with therapeutic potential.

Revista da Associacao Medica Brasileira (1992)
2018

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

JAMA neurology
2019

Cogan's Syndrome and Spondyloarthritis: Case Report.

Reumatologia clinica
2018

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.

Clinical genetics
2018

Asymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area.

Cognitive neuropsychiatry
2018

Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome.

JAMA ophthalmology
2017

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Scientific reports
2017

Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review.

Autoimmunity reviews
2017

An unusual presentation of Roth spots in Cogan's syndrome.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2018

Ocular Dysfunctions Presenting in Tacrolimus-Induced Posterior Reversible Encephalopathy Syndrome: A Case Presentation.

PM &amp; R : the journal of injury, function, and rehabilitation
2017

CT Features of Vasculitides Based on the 2012 International Chapel Hill Consensus Conference Revised Classification.

Korean journal of radiology
2017

Histopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation.

Audiology &amp; neuro-otology
2017

An elusive ciliopathy: Joubert syndrome.

BMJ case reports
2019

Late-onset Cogan's syndrome associated with large-vessel vasculitis.

Reumatologia clinica
2016

Successful Pregnancy in a Patient with Atypical Cogan's Syndrome.

The Israel Medical Association journal : IMAJ
2017

Systemic Lupus Erythematosus and hearing disorders: Literature review and meta-analysis of clinical and temporal bone findings.

The Journal of international medical research
2017

A unique case of keratoconus with Cogan-Reese syndrome and secondary glaucoma.

Indian journal of ophthalmology
2017

Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients.

Autoimmunity reviews
2017

Atypical Ulcerated Lesions in a Patient With Cogan Syndrome.

Actas dermo-sifiliograficas
2017

Visual and cross-modal cues increase the identification of overlapping visual stimuli in Balint's syndrome.

Journal of clinical and experimental neuropsychology
2017

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.

Nature
2017

Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response.

Lupus
2016

Bilateral injury of the superior longitudinal fasciculus in a patient with Balint syndrome.

Neurology
2016

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Orphanet journal of rare diseases
2016

Cogan syndrome with severe medium and large vessel vasculitis.

Digital journal of ophthalmology : DJO
2016

Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2016

[Unilateral photophobia as initial symptom of severe systemic disease].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2017

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

Cerebellum (London, England)
2017

Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.

Ophthalmic genetics
2016

[Cogan syndrome – when several of our senses are affected].

Lakartidningen
2016

Cogan's syndrome and treatment-resistant psychosis.

The Australian and New Zealand journal of psychiatry
2016

[Epithelial basement membrane dystrophy in a patient with keratoconus].

Journal francais d'ophtalmologie
2015

Surgical Treatment in a Case of Cogan's Syndrome Complicated With Proximal Aortic Vasculitis.

The Annals of thoracic surgery
2015

SEROUS NEUROSENSORY RETINAL DETACHMENT ASSOCIATED WITH ATYPICAL COGAN SYNDROME: A CASE REPORT.

Retinal cases &amp; brief reports
2015

Acute Bilateral Pulmonary Opacities Associated With Use of Tocilizumab.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2015

[Complete remission under azathioprine in a corticoresistant case of Cogan's syndrome].

Presse medicale (Paris, France : 1983)
2015

Lamotrigine-induced tubulointerstitial nephritis and uveitis-atypical Cogan syndrome.

European journal of ophthalmology
2016

Diagnosing Beethoven: A New Take on an Old Patient.

The American journal of medicine
2016

Histopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis.

The Annals of otology, rhinology, and laryngology
2015

Cogan's Syndrome in Patients With Inflammatory Bowel Disease--A Case Series.

Journal of Crohn's &amp; colitis
2015

[Description of the case of Cogan syndrome].

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2015

Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.

Neurobiology of aging
2015

Consensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology: I. Inflammatory diseases.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2015

Cogan's syndrome and other ocular vasculitides.

Current rheumatology reports
2015

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.

Journal of neurology
2015

Sudden hearing loss and Crohn disease: when Cogan syndrome must be suspected.

American journal of otolaryngology
2015

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2015

Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

Current neurology and neuroscience reports

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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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. Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
    International journal of molecular sciences· 2026· PMID 41683752mais citado
  2. Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.
    International ophthalmology· 2026· PMID 41499048mais citado
  3. Atypical Cogan's syndrome with delayed auditory and ocular manifestations.
    BMJ case reports· 2025· PMID 40866103mais citado
  4. Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.
    Journal of clinical neurology (Seoul, Korea)· 2025· PMID 39778574mais citado
  5. Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.
    Epidemiologia (Basel, Switzerland)· 2025· PMID 40843703mais citado
  6. Unexpected Death in a Young Child With Cogan Syndrome.
    Pediatrics· 2026· PMID 41980717recente
  7. Cogan Syndrome.
    · 2026· PMID 35593853recente
  8. Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.
    Oxf Med Case Reports· 2025· PMID 40843044recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1467(Orphanet)
  2. MONDO:0015453(MONDO)
  3. GARD:1421(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q1106923(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

Síndrome Cogan
Compêndio · Raras BR

Síndrome Cogan

ORPHA:1467 · MONDO:0015453
Prevalência
1-9 / 1 000 000
Casos
300 casos conhecidos
Herança
Not applicable
CID-10
H16.3 · Ceratites intersticial e profunda
CID-11
Início
Adolescent, Adult, Childhood
Prevalência
0.15 (Worldwide)
MedGen
UMLS
C0271270
EuropePMC
Wikidata
Papers 10a
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