Raras
Buscar doenças, sintomas, genes...
Corio-retinopatia "birdshot"
ORPHA:179CID-10 · H30.1CID-11 · 9B65.0OMIM 605808DOENÇA RARA

A corioretinopatia Birdshot é uma inflamação na parte de trás do olho (uveíte posterior) que se caracteriza por várias manchas esbranquiçadas e mais claras (com pouca pigmentação) na coroide, uma camada no fundo do olho. Ela está fortemente ligada a um marcador genético chamado HLA-A29 e seus sintomas incluem visão embaçada, pontos ou manchas que flutuam na visão (moscas volantes), flashes de luz, pontos cegos e dificuldade para enxergar no escuro.

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Introdução

O que você precisa saber de cara

📋

A corioretinopatia Birdshot é uma inflamação na parte de trás do olho (uveíte posterior) que se caracteriza por várias manchas esbranquiçadas e mais claras (com pouca pigmentação) na coroide, uma camada no fundo do olho. Ela está fortemente ligada a um marcador genético chamado HLA-A29 e seus sintomas incluem visão embaçada, pontos ou manchas que flutuam na visão (moscas volantes), flashes de luz, pontos cegos e dificuldade para enxergar no escuro.

Pesquisas ativas
1 ensaio
5 total registrados no ClinicalTrials.gov
Publicações científicas
290 artigos
Último publicado: 2026 Jan-Apr

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
0.35
Worldwide
Início
Adult
+ elderly
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H30.1
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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
16 sintomas
❤️
Coração
2 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

90%prev.
Perda da camada fotorreceptora na OCT macular
Muito frequente (99-80%)
90%prev.
Hipertensão ocular
Muito frequente (99-80%)
90%prev.
Morfologia vascular retiniana anormal
Muito frequente (99-80%)
90%prev.
Vitrite
Muito frequente (99-80%)
90%prev.
Anormalidade corioretiniana
Muito frequente (99-80%)
90%prev.
Perda visual
Muito frequente (99-80%)
28sintomas
Muito frequente (8)
Frequente (12)
Ocasional (3)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

Perda da camada fotorreceptora na OCT macularPhotoreceptor layer loss on macular OCT
Muito frequente (99-80%)90%
Hipertensão ocularOcular hypertension
Muito frequente (99-80%)90%
Morfologia vascular retiniana anormalAbnormal retinal vascular morphology
Muito frequente (99-80%)90%
VitriteVitritis
Muito frequente (99-80%)90%
Anormalidade corioretinianaChorioretinal abnormality
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico290PubMed
Últimos 10 anos200publicações
Pico202528 papers
Linha do tempo
2026Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2025Ano 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

1 gene identificado com associação a esta condição. Padrão de herança: Unknown.

HLA-AHLA class I histocompatibility antigen, A alpha chainMajor susceptibility factor inTolerante
FUNÇÃO

Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-A-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:10449296, PubMed:12138174, PubMed:12393434, PubMed:1402688, PubMed:15893615, PubMed:17189421, PubMed:19543285

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
E3 ubiquitin ligases ubiquitinate target proteins
EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
3020.0 TPM
Linfócitos
2770.5 TPM
Baço
2431.7 TPM
Pulmão
1955.9 TPM
Intestino delgado
1462.0 TPM
OUTRAS DOENÇAS (2)
birdshot chorioretinopathyStevens-Johnson syndrome
HGNC:4931UniProt:P04439

Variantes genéticas (ClinVar)

23 variantes patogênicas registradas no ClinVar.

🧬 HLA-A: NM_002116.8(HLA-A):c.*263G>A ()
🧬 HLA-A: NM_002116.8(HLA-A):c.*202A>G ()
🧬 HLA-A: NM_002116.8(HLA-A):c.1094-37T>G ()
🧬 HLA-A: NM_002116.8(HLA-A):c.1045+32C>A ()
🧬 HLA-A: NM_002116.8(HLA-A):c.1013A>T (p.Asp338Val) ()
Ver todas no ClinVar

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
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Corio-retinopatia "birdshot"

🗺️

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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

5 ensaios clínicos encontrados, 1 ativos.

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

📖Melhor nível de evidência: Revisão
Timeline de publicações
166 papers (10 anos)
#1

The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.

Investigative ophthalmology &amp; visual science2026 Jan 05

To investigate how ERAP1 and ERAP2 genotype combinations influence susceptibility and severity in birdshot chorioretinitis (BSCR), an HLA-A29-associated disease with variable visual outcomes. We analyzed ERAP1 and ERAP2 haplotypes in 406 HLA-A29-positive BSCR patients and 106 HLA-A29-positive controls. ERAP1 activity was inferred from published enzymatic efficiency data and ERAP2 activity from protein expression data. Predicted peptide trimming activity was assigned to each patient. Correlation and multivariable regression analyses were performed to evaluate associations between ERAP1 and ERAP2 genotypes and disease severity, assessed by disease onset (age at first symptoms) and visual outcomes: best-corrected visual acuity, mean deviation, pattern standard deviation, and foveal threshold. We observed high genetic diversity, with 86 distinct ERAP1-ERAP2 genotype combinations among BSCR patients. The Hap10-Hap8 ERAP1 pairing was most frequent in BSCR (13.6%) and less common in controls (6.6%). The ERAP2 HapA-HapA genotype was more frequent in patients (33.7%) than in controls (19.8%). The mean estimated total peptide trimming activity of ERAP1 per individual was significantly lower in BSCR patients than in controls (adjusted P = 6.2e-07), whereas ERAP2 activity was higher (adjusted P = 0.0025). No robust associations between ERAP1 or ERAP2 activity and visual outcomes were detected. In multivariable models, visual outcomes were predominantly driven by age and disease duration. Our findings support a model in which ERAP1 and ERAP2 contribute to BSCR susceptibility, but have limited influence on disease severity. The observed pattern of reduced ERAP1 and elevated ERAP2 activity in BSCR patients may affect peptide processing and HLA-A29-mediated presentation.

#2

NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.

American journal of ophthalmology2026 Mar 18

Non-infectious posterior and panuveitides (NIPUs) comprise a heterogeneous group of inflammatory disorders of the outer retina and choroid, historically referred to as "white dot syndromes." Recent consensus efforts by the Multimodal Imaging in Uveitis (MUV) Task Force have established standardized diagnostic criteria for the major NIPUs, including multiple evanescent white dot syndrome (MEWDS), multifocal choroiditis and panuveitis/punctate inner choroiditis (MFCPU/PIC), acute posterior multifocal placoid pigment epitheliopathy (APMPPE), serpiginous choroiditis, and birdshot chorioretinopathy (BSCR). Nevertheless, a substantial proportion of cases deviate from classical presentations and fall into diagnostic "grey zones", blurring boundaries between diseases entities and complicating both differential diagnosis and management. This review aims to describe the broad spectrum of atypical, variant, and secondary forms of NIPUs as well as masquerade syndromes. Atypical MEWDS includes bilateral presentations or complicated courses, while MFCPU/PIC with outer retinal atrophy emerges as a notable entity with unclear therapeutic implications. Inflammatory reactions resembling both MEWDS and MFCPU/PIC may also occur as secondary phenomena, triggered by other chorioretinal disorders, most notably inherited retinal diseases (IRDs). Placoid chorioretinopathies, including APMPPE, persistent placoid maculopathy, serpiginous choroiditis, and relentless placoid chorioretinitis, are often distinguished only a posteriori based on disease course, but likely represent a continuum of disorders unified by choroidal ischemia. Atypical presentations of BSCR may feature extensive outer retinal damage, mimicking IRDs. Equally important is the consideration of masquerade syndromes in all suspected cases of NIPUs, as they can present with similar features yet require entirely different treatments. Infectious masquerades include tuberculosis-associated serpiginous-like choroiditis, acute syphilitic posterior placoid chorioretinopathy, and West Nile virus chorioretinitis, whereas vitreoretinal lymphoma is the most frequent neoplastic masquerade. In conclusion, integrating clinical context with high-quality multimodal imaging remains essential to navigate the jungle of differential diagnosis in NIPUs, while future studies should aim to link imaging phenotypes with immune and molecular biomarkers to refine classification and guide targeted therapies.

#3

Birdshot Chorioretinopathy with Cystoid Macular Oedema.

Klinische Monatsblatter fur Augenheilkunde2026 Feb 23

We report the case of a 48-year-old Caucasian male who presented with progressive bilateral visual decline over more than three months. He was diagnosed with birdshot chorioretinopathy (BSCR) according to the Standardization of Uveitis Nomenclature (SUN) criteria, based on characteristic fundus findings and HLA-A29 positivity. Laboratory investigations, including angiotensin-converting enzyme (ACE) and soluble IL-2 receptor levels, were within normal limits and infectious serologies were negative. Thoracic imaging by computed tomography showed no signs suggestive of sarcoidosis or infection, and pulmonary function testing was normal. Systemic corticosteroids combined with methotrexate improved vitritis but left cystoid macular edema (CME) largely unchanged, especially in the right eye. Therapy was therefore switched to mycophenolate mofetil and adalimumab, which produced a marked reduction of CME, although some cystic changes persisted. This case highlights the therapeutic challenges in the real-world management of BSCR complicated by persistent CME. Even with reduction of intraocular inflammation, CME may remain resistant to systemic corticosteroids alone, particularly in patients presenting late in the disease course. Early diagnosis, exclusion of systemic mimics, and a flexible, imaging-guided approach to treatment are essential for optimising visual prognosis.

#4

Viral triggers and genetic predisposition in ocular autoimmunity: unraveling the breakdown of immune privilege and advancing targeted therapeutics.

Molecular aspects of medicine2026 Apr

The eye maintains vision through a distinctive immune privilege, utilizing physical barriers and active immunosuppression mediated by molecules such as FasL and PD-L1, as well as cells, including regulatory T cells and RPE cells. The emergence of sight-threatening immune-mediated ocular diseases, including non-infectious uveitis, signifies a significant disruption of this tolerance. This review analyzes the role of viral triggers and genetic predisposition in inducing immunological failure, while emphasizing the development of targeted therapeutic strategies. Viruses induce autoimmunity through molecular mimicry (Rotavirus peptides cross-reacting with retinal S-antigen), bystander activation, and active immune suppression (CMV inhibiting RPE cell IDO1 activity). HLA alleles, especially HLA-A29 (Birdshot Chorioretinopathy) and HLA-B27 (acute anterior uveitis), as well as non-MHC genes like NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome and AIRE, greatly increase the risk of genetic disorders. Treatment is progressing towards precision medicine, with targeted biologics like the IL-6 receptor inhibitor Tocilizumab being key strategies. Moreover, AAV-mediated gene therapy that expresses immunosuppressive molecules such as HLA-G demonstrates promise for the restoration of long-term tolerance in preclinical models, facilitating the development of advanced future strategies.

#5

Sex-Related Effects on the Clinical Presentation of Uveitis.

American journal of ophthalmology2026 Feb

The primary aim of this study was to determine sex-related patterns of uveitic entities. Secondary aims included sex-related patterns of uveitic complications. Retrospective clinical cohort study. 5703 participants presenting with uveitis from January 2009 to December 2023 were included. uveitis entities and complications. 2870 (50.3%) participants were female and 2831 (49.6%) were male. Males presented at a significantly younger age than females (42.2 vs 45.0). Significant sex-based differences were observed in the prevalence of specific uveitic conditions. Females were more likely to develop multifocal choroiditis (female: male ratio 1.818:1), Vogt-Koyanagi-Harada syndrome (female: male ratio 2.136:1), birdshot chorioretinopathy (female: male ratio 2.800:1, punctate inner choroidopathy (female: male ratio 6.571:1), drug-induced uveitis (female: male ratio 2.833:1), Crohn's disease (female: male ratio 3.714:1) and multiple evanescent white dot syndrome (female: male ratio 5.000:1). In contrast, males were more likely to develop acute posterior multifocal placoid pigment epitheliopathy (female: male ratio 0.364:1), sympathetic ophthalmia (female: male ratio 0.353:1) and syphilis (female: male ratio 0.404:1). Cataract was significantly more common in females, and this remained significant after adjusting for age at presentation, anatomical location and bilaterality. Cystoid macular edema and epiretinal membrane were more frequent in females, whereas retinal detachment occurred more often in males. Bilateral vision loss occurred in 238 patients (4.2%) and was significantly more common in females (4.9% vs 3.5%). Sex appears to be a key factor influencing the underlying etiology and clinical course of uveitis. These findings underscore the importance of considering sex as a biological variable in the diagnosis, monitoring, and management of uveitis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC188 artigos no totalmostrando 196

2026

NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.

American journal of ophthalmology
2026

Birdshot Chorioretinopathy with Cystoid Macular Oedema.

Klinische Monatsblatter fur Augenheilkunde
2026

Viral triggers and genetic predisposition in ocular autoimmunity: unraveling the breakdown of immune privilege and advancing targeted therapeutics.

Molecular aspects of medicine
2026

Sex-Related Effects on the Clinical Presentation of Uveitis.

American journal of ophthalmology
2026

Birdshot Chorioretinopathy in a Patient of Filipino Ancestry: A Case Report.

Cureus
2026

The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.

Investigative ophthalmology &amp; visual science
2025

Intriguing choroidal lesions in Birdshot chorioretinopathy: a diagnostic and clinical dilemma.

Journal of ophthalmic inflammation and infection
2026

Birdshot Chorioretinopathy with Double-Layer Sign and Choroidal Neovascularization: A Single-Centre Analysis.

Ocular immunology and inflammation
2025

Suprachoroidal Triamcinolone Acetonide for the Treatment of Refractory Macular Edema Secondary to Non-Infectious Uveitis.

Research square
2025

Clinical utility of ultra-widefield indocyanine green angiography in posterior uveitis.

Journal francais d'ophtalmologie
2025

Guidelines From the French-Speaking Society for Histocompatibility and Immunogenetics (SFHI) for Harmonisation of HLA Genotyping in Autoimmune Diseases, Drug Hypersensitivity and Pharmacogenetics.

HLA
2025

Birdshot Chorioretinopathy in a Patient on Tocilizumab for the Treatment of Giant Cell Arteritis.

Case reports in ophthalmological medicine
2025

The relationship between retinal vascular tortuosity and retinal vasculitis.

Journal of ophthalmic inflammation and infection
2025

Birdshot Chorioretinopathy Successfully Treated with Adalimumab: A Case Report.

Korean journal of ophthalmology : KJO
2025

Evaluation of Corticosteroids, Immunosuppressants and Biotherapies in Patients with Birdshot Retinochoroidopathy.

Ocular immunology and inflammation
2025

Minimum Imaging Sets for Diagnosis, Activity Assessment, and Complications in Noninfectious Posterior Uveitis - Multimodal Imaging in Uveitis (MUV) Task Force Report 9.

American journal of ophthalmology
2025

Noninfectious Uveitis Syndromes.

Advances in experimental medicine and biology
2025

Successful Use of Upadacitinib, a Selective JAK Inhibitor, in the Treatment of Two Cases of Recalcitrant Chronic Uveitis.

Journal of ophthalmic &amp; vision research
2025

Evidence and Consensus-based Imaging Guidelines in Birdshot Chorioretinopathy: Multimodal Imaging in Uveitis (MUV) Taskforce Report 8.

American journal of ophthalmology
2025

[Changes in global ERG in Birdshot chorioretinopathy and correlation with central macular thickness on OCT].

Journal francais d'ophtalmologie
2025

Prognostic Factors of Treatment Failure with First-Line Corticosteroid-Sparing Agents in Patients with Birdshot Chorioretinopathy: A Retrospective Study.

Ocular immunology and inflammation
2025

Risankizumab-Rzaa in the Management of Birdshot Chorioretinopathy: A Case Report.

Ocular immunology and inflammation
2025

Intravitreal Corticosteroids in the Management of Refractory Macular Edema in Birdshot Chorioretinopathy.

International medical case reports journal
2025

Electroretinography of disease activity and treatment response in birdshot chorioretinopathy.

Eye (London, England)
2025

[BIRDSHOT CHORIORETINOPATHY].

Harefuah
2025

BILATERAL SEQUENTIAL INFLAMMATORY FULL-THICKNESS MACULAR HOLES IN BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2025

Recurrent uveitic macular edema managed with intravitreal faricimab injection.

Journal of ophthalmic inflammation and infection
2025

Systemic Lymphoma Masquerading as Birdshot Chorioretinopathy.

Retinal cases &amp; brief reports
2025

Peripapillary atrophy in patients with birdshot chorioretinitis.

The British journal of ophthalmology
2025

Spectrum of Imaging Characteristics of Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2024

An update of multimodal imaging in white dot syndrome.

Oman journal of ophthalmology
2025

Indolent Nonprogressive Multifocal Choroidal Lesions: A Review of Literature and Case Report Based on Similarity.

Ocular immunology and inflammation
2024

The Impact of HLA-A29 Homozygosity and of the Second HLA-A Allele on Susceptibility and Severity of Birdshot Chorioretinitis.

Investigative ophthalmology &amp; visual science
2025

Online Patient Resources for Birdshot Uveitis: How Readable are These Resources?

Ocular immunology and inflammation
2024

CYSTOID MACULAR EDEMA IN BIRDSHOT RETINOCHOROÏDITIS: Long-Term Treatment Study in 142 Patients.

Retina (Philadelphia, Pa.)
2025

Quality of Life in Patients with Birdshot Chorioretinitis Aged 80 and Older.

Ocular immunology and inflammation
2024

HLA-A29 Negative Birdshot-like Chorioretinopathy Associated with Vitiligo-Case Report.

Journal of clinical medicine
2024

Characterization of Retinal Microvascular Abnormalities in Birdshot Chorioretinopathy Using OCT Angiography.

Ophthalmology science
2024

Single-cell profiling identifies a CD8bright CD244bright Natural Killer cell subset that reflects disease activity in HLA-A29-positive birdshot chorioretinopathy.

Nature communications
2024

Fractal Changes of the Retinal Microvasculature in Birdshot Chorioretinopathy.

Ophthalmic surgery, lasers &amp; imaging retina
2024

Assessment of Blood Flow Velocity in Retinal Vasculitis Using the Retinal Function Imager-A Pilot Study.

Journal of clinical medicine
2024

Application of Ophthalmic Electrophysiology in Inflammatory Disorders of Retina and Optic Nerve.

Journal of clinical medicine
2024

Visual acuity and visual field as a function of disease duration in patients with birdshot chorioretinitis.

The British journal of ophthalmology
2024

Optic Disc Edema Is an Under-Recognized Feature of Birdshot Chorioretinitis.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2025

INDOCYANINE GREEN ANGIOGRAPHY OF OPTIC DISK GRANULOMA IN OCULAR SARCOIDOSIS.

Retinal cases &amp; brief reports
2023

Birdshot Chorioretinopathy in Early Adulthood: Review of Current Literature and Case Report.

International medical case reports journal
2024

Optical coherence tomography angiography in birdshot chorioretinopathy.

European journal of ophthalmology
2023

Long-Term Outcomes of Birdshot Chorioretinopathy Treated with Corticosteroids: A Case Reports.

Journal of clinical medicine
2024

Non-invasive biomarkers for close activity monitoring in birdshot chorioretinitis: Optical coherence tomography angiography and beyond.

Acta ophthalmologica
2023

Reactive lymphoid hyperplasia of the uvea in a patient with birdshot chorioretinopathy.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

Atypical Unilateral Birdshot Chorioretinitis in a Hispanic Female.

Puerto Rico health sciences journal
2023

HISTOPATHOLOGIC CONFIRMATION OF LYMPHOCYTIC INFILTRATION OF THE OPTIC NERVE AND INNER RETINA IN BIRDSHOT CHORIORETINOPATHY.

Retina (Philadelphia, Pa.)
2024

Birdshot Chorioretinitis in Patients Aged 80 and Older.

Ocular immunology and inflammation
2023

Multimodal Imaging of Choroidal Lesions in an Elderly Man With Uveal Lymphoid Hyperplasia.

Journal of vitreoretinal diseases
2023

Birdshot chorioretinopathy mimicking chiasmal compression.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

Swept Source Optical Coherence Tomography Angiography Findings in Birdshot Chorioretinitis: A Cross Sectional Study of 21 Patients.

Ocular immunology and inflammation
2023

The incidence, presenting clinical findings and treatment patterns of Birdshot Retinochoroiditis in a high-prevalence region: findings from Northern Ireland, England and Wales.

Eye (London, England)
2023

Birdshot chorioretinopathy in an HLA-A29 positive Asian patient.

American journal of ophthalmology case reports
2023

Retina-arrestin specific CD8+ T cells are not implicated in HLA-A29-positive birdshot chorioretinitis.

Clinical immunology (Orlando, Fla.)
2024

High Positive Predictive Value of Fluorescein Angiography Contiguous, Perineural Retinal Vascular Leakage Pattern for Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2023

Lower fractal dimension of retinal vessel for patients with Birdshot chorioretinopathy.

Acta ophthalmologica
2022

Benefits and Limitations of OCT-A in the Diagnosis and Follow-Up of Posterior Intraocular Inflammation in Current Clinical Practice: A Valuable Tool or a Deceiver?

Diagnostics (Basel, Switzerland)
2022

Evaluating patient-reported outcome measures (PROMs) for clinical trials and clinical practice in adult patients with uveitis or scleritis: a systematic review.

Journal of ophthalmic inflammation and infection
2023

Acute macular neuroretinopathy in a patient with birdshot chorioretinopathy after intravitreal triamcinolone suspension injection.

European journal of ophthalmology
2022

Spectrally resolved autofluorescence imaging in posterior uveitis.

Scientific reports
2022

Birdshot Chorioretinopathy: A Review.

Journal of clinical medicine
2022

A Case of Birdshot Chorioretinopathy following Varicella Zoster Virus-Induced Progressive Retinal Necrosis in the Contralateral Eye.

Case reports in ophthalmology
2022

Electrophysiological Assessment in Birdshot Chorioretinopathy: Flicker Electroretinograms Recorded With a Handheld Device.

Translational vision science &amp; technology
2022

Outer Retinal Disruption in Early-Onset Birdshot Chorioretinopathy.

Ophthalmology. Retina
2022

Progress in the genetics of uveitis.

Genes and immunity
2023

Birdshot Chorioretinopathy: Resistant versus Responsive.

Ocular immunology and inflammation
2022

Treatment Outcomes in Birdshot Chorioretinitis: Corticosteroid Sparing, Corticosteroid Discontinuation, Remission, and Relapse.

Ophthalmology. Retina
2022

ROLE OF OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN DETECTING AND MONITORING INFLAMMATORY CHOROIDAL NEOVASCULARIZATION.

Retina (Philadelphia, Pa.)
2022

Anti-Tumor Necrosis Factor α versus Tocilizumab in the Treatment of Refractory Uveitic Macular Edema: A Multicenter Study from the French Uveitis Network.

Ophthalmology
2021

Not All Cases of Visual Snows are Benign: Mimics of Visual Snow Syndrome.

Neuropsychiatric disease and treatment
2021

ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers.

Investigative ophthalmology &amp; visual science
2022

Does the Interaction of KIR and HLA Affect the Development of Non-Infectious Uveitis?

Current molecular medicine
2023

Late recurrence in birdshot chorioretinopathy.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2021

IMMUNE-MEDIATED INTRAOCULAR INFLAMMATION. A REVIEW.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2021

Bilateral juxtapapillary choroidal neovascularization secondary to Birdshot chorioretinopathy-case report.

Clinical case reports
2021

Ocular manifestations of skin diseases with pathological keratinization abnormalities.

Postepy dermatologii i alergologii
2022

Recurrence of inflammatory choroidal lesions on indocyanine green angiography despite adalimumab treatment as monotherapy in two patients with birdshot retinochoroidopathy: Report of two cases.

Journal francais d'ophtalmologie
2021

Peripapillary Halo in Inflammatory Papillitis of Birdshot Chorioretinopathy.

Clinical ophthalmology (Auckland, N.Z.)
2021

Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Frontiers in immunology
2021

Analysis of peripheral inflammatory T cell subsets and their effector function in patients with Birdshot Retinochoroiditis.

Scientific reports
2021

Classification Criteria for Birdshot Chorioretinitis.

American journal of ophthalmology
2021

[Anatomic-functional correlations in birdshot chorioretinopathy: An observational single-center prospective study].

Journal francais d'ophtalmologie
2021

Electroretinogram and Visual Field Correlation in Birdshot Chorioretinopathy.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2022

Infectious Uveitis after Local Steroid and/or Methotrexate Injections at A Tertiary Referral Center in New Zealand: A Case Series.

Ocular immunology and inflammation
2021

ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29.

Frontiers in immunology
2022

Review of the Current Literature and Our Experience on the Value of OCT-angiography in White Dot Syndromes.

Ocular immunology and inflammation
2020

The Impact of the 'Mis-Peptidome' on HLA Class I-Mediated Diseases: Contribution of ERAP1 and ERAP2 and Effects on the Immune Response.

International journal of molecular sciences
2022

Evaluation of fluocinolone acetonide 0.19 mg intravitreal implant in the management of birdshot retinochoroiditis.

The British journal of ophthalmology
2021

Relationship between changes in retinal nerve fiber layer thickness measured by SD-OCT and changes in visual field parameters in birdshot chorioretinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2020

HLA-A alleles including HLA-A29 affect the composition of the gut microbiome: a potential clue to the pathogenesis of birdshot retinochoroidopathy.

Scientific reports
2020

Characteristics, Upon Presentation, of a Cohort of Hispanic Patients with Birdshot Retinochoroidopathy.

Puerto Rico health sciences journal
2020

The impact of impending / onset of vision loss on depression, anxiety, and vision-related quality of life in Birdshot-Retinochoroiditis and Serpiginous Choroiditis.

PloS one
2022

Creating a Health Utility Value for Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2022

Fixed-Luminance and Multi-Luminance Flicker Electroretinography Parameters in Patients with Early Active Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2020

Birdshot chorioretinopathy presenting in a teenager.

American journal of ophthalmology case reports
2020

Oscillatory potentials in patients with birdshot chorioretinopathy.

Documenta ophthalmologica. Advances in ophthalmology
2020

Peripheral Capillary Non-perfusion in Birdshot Retinochoroiditis: A Novel Finding on Ultra-widefield Fluorescein Angiography.

Ocular immunology and inflammation
2020

INDOLENT, NONPROGRESSIVE, MULTIFOCAL CHOROIDAL LESIONS: A Presumed Benign Choroidal Lymphoid Disease.

Retina (Philadelphia, Pa.)
2021

Activation of the interleukin-23/interleukin-17 signalling pathway in autoinflammatory and autoimmune uveitis.

Progress in retinal and eye research
2021

Not All That Flickers Is Snow.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2020

The roles of ERAP1 and ERAP2 in autoimmunity and cancer immunity: New insights and perspective.

Molecular immunology
2021

Reproducibility of Full-field Electroretinogram Measurements in Birdshot Chorioretinopathy Patients: An Intra- and Inter-visit Analysis.

Ocular immunology and inflammation
2021

IMMUNE-MEDIATED INTRAOCULAR INFLAMMATION. A REVIEW.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2019

Topographic correlation between multifocal electroretinography, microperimetry, and spectral-domain optical coherence tomography of the macula in patients with birdshot chorioretinopathy.

Journal of ophthalmic inflammation and infection
2021

High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2021

Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2022

CHOROIDAL LESIONS UNRESPONSIVE TO FLUOCINOLONE ACETONIDE INTRAVITREAL IMPLANT IN BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2019

Epidemiology of Adult Uveitis in a Northern Ireland Tertiary Referral Centre.

The Ulster medical journal
2020

Long-term outcomes of systemic corticosteroid-sparing immunomodulatory therapy for Birdshot Retinochoroidopathy.

Ocular immunology and inflammation
2019

Visual acuity loss and development of ocular complications in white dot syndromes: a longitudinal analysis of 3 centers.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2019

Association of Fundus Autofluorescence Findings and Outer Retinal Lesions on Optical Coherence Tomography With Visual Acuity in Birdshot Chorioretinopathy.

Journal of vitreoretinal diseases
2019

Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy-Reply.

JAMA ophthalmology
2019

Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy.

JAMA ophthalmology
2020

EVALUATION OF PHOTORECEPTORS, RETINAL CAPILLARY PLEXUSES, AND CHORIOCAPILLARIS IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY.

Retina (Philadelphia, Pa.)
2019

Unilateral Birdshot Chorioretinopathy in an Elderly Patient.

Rhode Island medical journal (2013)
2019

Endophthalmitis following cataract surgery and intracameral antibiotic: Moxifloxacin resistant Staphylococcus epidermidis.

American journal of ophthalmology case reports
2019

Comparison of choroidal neovascularization secondary to white dot syndromes and age-related macular degeneration by using optical coherence tomography angiography.

Clinical ophthalmology (Auckland, N.Z.)
2019

Five-Year Trends in Multifocal Electroretinogram for Patients With Birdshot Chorioretinopathy.

American journal of ophthalmology
2018

Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome.

International medical case reports journal
2019

Low-grade "benign" birdshot retinochoroiditis: prevalence and characteristics.

International ophthalmology
2018

How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins.

Frontiers in immunology
2019

The genetics, structure and function of the M1 aminopeptidase oxytocinase subfamily and their therapeutic potential in immune-mediated disease.

Human immunology
2019

Outcomes of "Early" Withdrawal of Corticosteroid Sparing Immunomodulatory Therapy for Birdshot Retinochoroidopathy.

Ocular immunology and inflammation
2018

Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy.

JAMA ophthalmology
2019

ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY.

Retina (Philadelphia, Pa.)
2018

Birdshot-like Chorioretinopathy Associated With Pembrolizumab Treatment.

JAMA ophthalmology
2019

Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2019

Choroidal Thickness in Birdshot Retinochoroiditis Over a 2-Year Period.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
2018

Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy.

Molecular &amp; cellular proteomics : MCP
2018

Need for Quantitative Measurement Methods for Posterior Uveitis: Comparison of Dual FA/ICGA Angiography, EDI-OCT Choroidal Thickness and SUN Vitreous Haze Evaluation in Stromal Choroiditis.

Klinische Monatsblatter fur Augenheilkunde
2019

PERIVASCULAR THICKENING ON OPTICAL COHERENCE TOMOGRAPHY AS A MARKER OF INFLAMMATION IN BIRDSHOT RETINOCHOROIDITIS.

Retina (Philadelphia, Pa.)
2018

Tocilizumab for the treatment of birdshot uveitis that failed interferon alpha and anti-tumor necrosis factor-alpha therapy: two cases report and literature review.

Clinical rheumatology
2018

The diagnostic usefulness of the negative electroretinogram.

Archivos de la Sociedad Espanola de Oftalmologia
2017

Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2017

Multimodal Imaging in Birdshot Retinochoroiditis.

Ocular immunology and inflammation
2018

Safety profile and efficacy of tacrolimus in the treatment of birdshot retinochoroiditis: a retrospective case series review.

The British journal of ophthalmology
2017

Antigen-specificity of antiretinal antibodies in patients with noninfectious uveitis.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2018

Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography.

The British journal of ophthalmology
2020

INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2017

Distinguishing White Dot Syndromes With Patterns of Choroidal Hypoperfusion on Optical Coherence Tomography Angiography.

Ophthalmic surgery, lasers &amp; imaging retina
2017

Fundus Autofluorescence Findings in Eyes With Birdshot Chorioretinitis.

Investigative ophthalmology &amp; visual science
2017

The Value of Diagnostic Work-Up in the Evaluation of White Dot Syndromes.

Ophthalmic surgery, lasers &amp; imaging retina
2018

Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy.

International ophthalmology
2017

IL-6 blockade in the management of non-infectious uveitis.

Clinical rheumatology
2018

TWENTY-FOUR MONTH FOLLOW-UP OF TOCILIZUMAB THERAPY FOR REFRACTORY UVEITIS-RELATED MACULAR EDEMA.

Retina (Philadelphia, Pa.)
2017

Feasibility of swept-source OCT for active birdshot chorioretinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2017

Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness.

Ophthalmology
2017

Analysis of autofluorescence pattern in birdshot chorioretinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2017

Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study.

Ocular immunology and inflammation
2017

Multi-modal imaging and anatomic classification of the white dot syndromes.

International journal of retina and vitreous
2017

Why birdshot retinochoroiditis should rather be called 'HLA-A29 uveitis'?

The British journal of ophthalmology
2018

Contribution of dual fluorescein and indocyanine green angiography to the appraisal of posterior involvement in birdshot retinochoroiditis and Vogt-Koyanagi-Harada disease.

International ophthalmology
2017

Electroretinogram and visual field changes in a case of birdshot chorioretinopathy.

Documenta ophthalmologica. Advances in ophthalmology
2018

RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY.

Retina (Philadelphia, Pa.)
2016

Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy.

International journal of retina and vitreous
2016

DELINEATION OF CHOROIDAL AND RETINAL LESIONS IN POSTERIOR UVEITIS BY MULTISPECTRAL WIDE-FIELD SCANNING LASER OPHTHALMOSCOPY.

Retina (Philadelphia, Pa.)
2016

POOR PROGNOSTIC FACTORS IN PATIENTS WITH BIRDSHOT RETINOCHOROIDOPATHY.

Retina (Philadelphia, Pa.)
2017

Efficacy of Anti-IL6-Receptor Tocilizumab in Refractory Cystoid Macular Edema of Birdshot Retinochoroidopathy Report of Two Cases and Literature Review.

Ocular immunology and inflammation
2017

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION.

Retinal cases &amp; brief reports
2017

New insights into the genetic component of non-infectious uveitis through an Immunochip strategy.

Journal of medical genetics
2016

Choroidal Findings in Eyes With Birdshot Chorioretinitis Using Enhanced-Depth Optical Coherence Tomography.

Investigative ophthalmology &amp; visual science
2016

Birdshot Retinochoroidopathy: Prognostic Factors of Long-term Visual Outcome.

American journal of ophthalmology
2016

Molecular and pathogenic effects of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in MHC-I-associated inflammatory disorders: Towards a unifying view.

Molecular immunology
2017

Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy.

Acta ophthalmologica
2017

CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2017

Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2016

Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy.

Journal of ophthalmic inflammation and infection
2016

Multimodal imaging of the disease progression of birdshot chorioretinopathy.

Acta ophthalmologica
2016

Choroidal Neovascularization Associated With Birdshot Chorioretinopathy.

Ophthalmic surgery, lasers &amp; imaging retina
2016

Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment.

Orphanet journal of rare diseases
2017

WALDENSTRÖM'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2017

Birdshot Retinochoroidopathy: Differences in Clinical Characteristics between Patients with Early and Late Age of Onset.

Ocular immunology and inflammation
2017

In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient".

Ocular immunology and inflammation
2017

Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy.

Acta ophthalmologica
2017

INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY.

Retinal cases &amp; brief reports
2016

BIRDSHOT CHORIORETINITIS LESIONS ON INDOCYANINE GREEN ANGIOGRAPHY AS AN INDICATOR OF DISEASE ACTIVITY.

Retina (Philadelphia, Pa.)
2016

ANALYSIS OF THREE-DIMENSIONAL CHOROIDAL VOLUME WITH ENHANCED DEPTH IMAGING FINDINGS IN PATIENTS WITH BIRDSHOT RETINOCHOROIDOPATHY.

Retina (Philadelphia, Pa.)
2015

Strong topical steroid, NSAID, and carbonic anhydrase inhibitor cocktail for treatment of cystoid macular edema.

International medical case reports journal
2016

Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy.

Ocular immunology and inflammation
2016

Short-Wavelength Automated Perimetry Parameters at Baseline and Following Remission in Patients With Birdshot Retinochoroidopathy.

American journal of ophthalmology
2015

Quantitative Assessment of Retinal Degeneration in Birdshot Chorioretinopathy Using Optical Coherence Tomography.

Ophthalmic surgery, lasers &amp; imaging retina
2016

HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT.

Retinal cases &amp; brief reports
2015

Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy.

Case reports in ophthalmology
2016

PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION.

Retinal cases &amp; brief reports
2015

RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

Retina (Philadelphia, Pa.)
2015

Molecular Genetic Advances in Uveitis.

Progress in molecular biology and translational science
2015

Results of intravitreal dexamethasone implant 0.7 mg (Ozurdex®) in non-infectious posterior uveitis.

International journal of ophthalmology
2015

Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy.

Journal of ophthalmology
2015

Visual Acuity in Birdshot Retinochoroidopathy Evaluation.

American journal of ophthalmology
2015

CHARACTERISTICS AND LONG-TERM OUTCOME OF PATIENTS WITH NONINFECTIOUS RETINAL VASCULITIS.

Retina (Philadelphia, Pa.)
2015

Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy.

JAMA ophthalmology

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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. The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41575441mais citado
  2. NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
    American journal of ophthalmology· 2026· PMID 41861897mais citado
  3. Birdshot Chorioretinopathy with Cystoid Macular Oedema.
    Klinische Monatsblatter fur Augenheilkunde· 2026· PMID 41730283mais citado
  4. Viral triggers and genetic predisposition in ocular autoimmunity: unraveling the breakdown of immune privilege and advancing targeted therapeutics.
    Molecular aspects of medicine· 2026· PMID 41724162mais citado
  5. Sex-Related Effects on the Clinical Presentation of Uveitis.
    American journal of ophthalmology· 2026· PMID 41642701mais citado
  6. Oral cyclophosphamide as part of the treatment regimen in patients with nonparaneoplastic autoimmune retinopathy secondary to birdshot chorioretinopathy.
    Oman J Ophthalmol· 2026· PMID 41930025recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:179(Orphanet)
  2. OMIM OMIM:605808(OMIM)
  3. MONDO:0011599(MONDO)
  4. GARD:5926(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q4916140(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

Corio-retinopatia "birdshot"
Compêndio · Raras BR

Corio-retinopatia "birdshot"

ORPHA:179 · MONDO:0011599
Prevalência
1-9 / 1 000 000
Herança
Unknown
CID-10
H30.1 · Inflamação corrorretiniana disseminada
CID-11
Ensaios
1 ativos
Início
Adult, Elderly
Prevalência
0.35 (Worldwide)
MedGen
UMLS
C1853959
EuropePMC
Wikidata
Papers 10a
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