Uveitis

Summary

Uveitis (MONDO:0020283) is a disease (an umbrella term covering 9 Mondo subtypes) with 13 GWAS associations across 12 studies and 206 clinical trials. Top therapeutic interventions include daclizumab, fluocinolone acetonide, and secukinumab. A subtype of uveal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-5 / 10 000 (Europe)
• Umbrella term: 9 Mondo subtypes
• GWAS associations: 13
• Clinical trials: 206

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-5 / 10 000	17	Europe	Not yet validated
Point prevalence	1-5 / 10 000	38	Europe	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	uveitis
Mondo ID	MONDO:0020283
EFO	EFO:1001231
MeSH	D014605
Orphanet	98715
DOID	DOID:13141
NCIT	C26909
SNOMED CT	128473001
UMLS	C0042164
MedGen	52961
GARD	0019549
MedDRA	10046851
Is cancer (heuristic)	no

Also known as: inflammation of uvea · uvea inflammation · uveitis · uveitis (disease)

Data availability: 13 GWAS associations (12 studies) · 1 HPO phenotype.

Disease family

This is a subtype of uveal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › uveal disorder › uveitis

Related subtypes (3): optic choroid disorder, iris disorder, uvea neoplasm

Subtypes (9): chorioretinitis, anterior uveitis, intermediate uveitis, iritis, posterior uveitis, suppurative uveitis, panuveitis, idiopathic posterior uveitis, autoimmune uveitis

Genetics & variants

GWAS landscape

13 GWAS associations across 12 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs114615123	2e-229	MICA-AS1	C	1.03
rs116135464	8e-191	MICA	T	1.84
rs188239880	2e-80	MICA-AS1	?
rs570160466	1e-34	MICA-AS1	C	1.33
rs146683910	8e-19	HLA-B - RNU6-283P	?	2.73
HLA-DRB1*08	1e-15		?	12.49
rs748670681	5e-15	TNRC18	T	0.71
rs1667392	1e-13	HERC2	G	0.42
rs28580505	4e-09	CAST, ERAP1	G	0.18
rs549331938	7e-09	SELENOV - EID2B	G	1.15
chr11:75315166	9e-09		G	5.49
HLA-DRB1*11	1e-06		?	3.36

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477735	Verma A	2024	4,512	443,739	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475886	Verma A	2024	3,411	116,840	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480085	Verma A	2024	3,411	116,840	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90018938	Sakaue S	2021	2,616	478,126	A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90651129	Liu TY	2025	775	217,632	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477734	Verma A	2024	743	58,756	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436006	Zhou W	2018	486	399,306	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST006126	Haasnoot AJW	2018	192	0	An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis.
GCST006127	Haasnoot AJW	2018	192	0	An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis.
GCST90492698	Lyu X	2024	153	220,687	A genome-wide cross-trait analysis identifying shared genetic basis and causal relationships between Hunner-type interstitial cystitis and autoimmune diseases in East Asian populations.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	12

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	1
rare (<0.01)	1
unknown	6

Functional consequences

Consequence	Count
intron_variant	8
unknown	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs114615123	6	31384787	C>T	0.034	intron_variant	MICA-AS1	2e-229	Tier 4: intronic/intergenic
rs116135464	6	31403207	C>T	0.05	intron_variant	MICA	8e-191	Tier 4: intronic/intergenic
rs188239880	6	31392309	T>C		intron_variant	MICA-AS1	2e-80	Tier 4: intronic/intergenic
rs570160466	6	31388556	C>A,T	0.007	intron_variant	MICA-AS1	1e-34	Tier 4: intronic/intergenic
rs146683910	6	31368220	C>T	0.05	intron_variant	HLA-B - RNU6-283P	8e-19	Tier 4: intronic/intergenic
HLA-DRB1*08							1e-15	Tier 4: intronic/intergenic
rs748670681	7	5397122	C>T		intron_variant	TNRC18	5e-15	Tier 4: intronic/intergenic
rs1667392	15	28288419	G>A,C,T	0.112	intron_variant	HERC2	1e-13	Tier 4: intronic/intergenic
rs28580505	5	96765516	A>G	0.05	intron_variant	CAST, ERAP1	4e-09	Tier 4: intronic/intergenic
rs549331938	19	39525774	C>A,G,T		intergenic_variant	SELENOV - EID2B	7e-09	Tier 4: intronic/intergenic
chr11:75315166							9e-09	Tier 4: intronic/intergenic
HLA-DRB1*11							1e-06	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

4 approved, 11 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Adalimumab	Approved (phase 4)
Dexamethasone	Approved (phase 4)
Fluocinolone Acetonide	Approved (phase 4)
Methylprednisolone Acetate	Approved (phase 4)
Baricitinib	Phase 3 (in late-stage trials)
Bevacizumab	Phase 3 (in late-stage trials)
Difluprednate	Phase 3 (in late-stage trials)
Gevokizumab	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Mycophenolate Mofetil	Phase 3 (in late-stage trials)
Prednisolone Acetate	Phase 3 (in late-stage trials)
Prednisone	Phase 3 (in late-stage trials)
Secukinumab	Phase 3 (in late-stage trials)
Triamcinolone Acetonide	Phase 3 (in late-stage trials)
Voclosporin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Abatacept, Anakinra, Basiliximab, Corticotropin, Daclizumab, Everolimus, Filgotinib, Fingolimod, Folic Acid, Izokibep, Leflunomide, Prednisolone, Sarilumab, Simvastatin, Tocilizumab, Ustekinumab.

Clinical trials & evidence

Clinical trials

Clinical trials: 206.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	102
PHASE2	31
PHASE3	29
PHASE4	16
PHASE1/PHASE2	11
PHASE1	11
PHASE2/PHASE3	5
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05105347	PHASE4	NOT_YET_RECRUITING	Efficacy and Safety of Adalimumab Plus Medium Dose Oral Glucocorticosteroid for Refractory Behçet’s Uveitis
NCT06390436	PHASE4	NOT_YET_RECRUITING	Therapeutic Drug Monitoring-baSed adalimuMab De-escalatiOn in nOn-infecTious cHronic Uveitis
NCT00132691	PHASE4	COMPLETED	Multicenter Uveitis Steroid Treatment (MUST) Trial
NCT00314665	PHASE4	TERMINATED	Use of Thalidomide in Chronic Uveitis
NCT00543296	PHASE4	COMPLETED	Re-implantation of a Fluocinolone Acetonide Implant for Non-infectious Uveitis Affecting the Posterior Segment
NCT00589628	PHASE4	COMPLETED	Multi Center Prospective Registry of Infliximab Use for Childhood Uveitis
NCT00720928	PHASE4	UNKNOWN	Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet’s Disease
NCT01870440	PHASE4	COMPLETED	TAHOE: Intravitreal Dexamethasone Implant (Ozurdex) for Uveitic Macular Edema
NCT01939691	PHASE4	TERMINATED	Macular Edema Nepafenac vs. Difluprednate Uveitis Trial
NCT02598869	PHASE4	WITHDRAWN	Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema
NCT02764697	PHASE4	COMPLETED	Study of H.P. ACTHAR Subcutaneous Gelatin (Gel)(Highly Purified Gel Injection) in Uveitis Patients
NCT02769702	PHASE4	TERMINATED	Open Label Study of Acthar SQ Gel Injection in Patients With Active Anterior Uveitis
NCT03816397	PHASE4	COMPLETED	Adalimumab in JIA-associated Uveitis Stopping Trial
NCT04150770	PHASE4	UNKNOWN	A Clinical Trial of Infliximab for Childhood Uveitis
NCT05180526	PHASE4	UNKNOWN	Assessment of Safety , Clinical Efficacy with QLETLI in Non-infectious Uveitis (UV)
NCT06613919	PHASE4	COMPLETED	Six-months Versus Nine-months ATT for Ocular TB
NCT04088409	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Baricitinib (LY3009104) in Participants From 2 Years to Less Than 18 Years Old With Active JIA-Associated Uveitis or Chronic Anterior Antinuclear Antibody-Positive Uveitis
NCT05486468	PHASE3	RECRUITING	The Use of Two YUTIQ Versus Sham for Treatment of Chronic Non Infectious Intraocular Inflammation Affecting the Posterior Segment
NCT06431373	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Brepocitinib in Adults With Active, Non-Infectious, Non-Anterior Uveitis
NCT00000124	PHASE3	UNKNOWN	Collaborative Ocular Melanoma Study (COMS)
NCT00012506	PHASE3	UNKNOWN	The Safety and Efficacy of a Tumor Necrosis Factor Receptor Fusion Protein on Uveitis Associated With Juvenile Rheumatoid Arthritis
NCT00348153	PHASE2/PHASE3	UNKNOWN	Adalimumab in Uveitis Refractory to Conventional Therapy (ADUR Trial)
NCT00407056	PHASE3	COMPLETED	Study of Difluprednate Ophthalmic Emulsion in the Treatment of Severe Uveitis
NCT00501579	PHASE3	COMPLETED	Study of Difluprednate in the Treatment of Uveitis
NCT01093846	PHASE3	TERMINATED	38 Week Extension Study to CAIN457C2303
NCT01095250	PHASE3	TERMINATED	Safety and Efficacy of AIN457 in Patients With Active Non-infectious Uveitis
NCT01095809	PHASE3	TERMINATED	Efficacy, Safety and Tolerability of Repeated Dosis of Intravitreous Bevacizumab in Uveitic Macular Oedema
NCT01103024	PHASE3	WITHDRAWN	Extension Study to Assess Safety and Efficacy of AIN457 in Patients With Active Non-infectious Uveitis
NCT01124838	PHASE3	COMPLETED	Efficacy and Safety of Adalimumab in Subjects With Inactive Uveitis
NCT01138657	PHASE3	COMPLETED	Efficacy and Safety of Adalimumab in Patients With Active Uveitis
NCT01148225	PHASE3	COMPLETED	A Study of the Long-term Safety and Efficacy of Adalimumab in Subjects With Intermediate-, Posterior-, or Pan-uveitis
NCT01232920	PHASE3	COMPLETED	First-line Antimetabolites as Steroid-sparing Treatment Uveitis Pilot Trial
NCT01327664	PHASE3	WITHDRAWN	Study to Evaluate the Long Term Use of Treatment With AIN457 for Uveitis
NCT01385826	PHASE2/PHASE3	COMPLETED	Effect of Adalimumab for the Treatment of Uveitis in Juvenile Idiopathic Arthritis
NCT01684345	PHASE3	TERMINATED	Safety and Efficacy Study of Gevokizumab to Treat Active Non-infectious Uveitis
NCT01747538	PHASE3	TERMINATED	Safety and Efficacy Study of Gevokizumab to Treat Non-infectious Uveitis Controlled With Systemic Treatment
NCT01829295	PHASE3	COMPLETED	Methotrexate and Mycophenolate Mofetil for UVEITIS
NCT02252328	PHASE2/PHASE3	UNKNOWN	Use of Simvastatin as a Steroid Sparing Agent for Uveitis Patients
NCT02258854	PHASE3	TERMINATED	An Open-label, Rollover Study Providing Continued Dosing of Gevokizumab in Order to Assess Long-term Gevokizumab Safety Data
NCT02374060	PHASE3	COMPLETED	PeriOcular and INTravitreal Corticosteroids for Uveitic Macular Edema Trial

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DACLIZUMAB	4	5
FLUOCINOLONE ACETONIDE	4	4
SECUKINUMAB	4	4
ADALIMUMAB	4	2
DIFLUPREDNATE	4	2
INFLIXIMAB	4	2
INTERFERON GAMMA-1B	4	2
PREDNISOLONE ACETATE	4	2
TRIAMCINOLONE	4	2
TRIAMCINOLONE ACETONIDE	4	2
USTEKINUMAB	4	2
ABATACEPT	4	1
ACYCLOVIR	4	1
ANAKINRA	4	1
APREMILAST	4	1
BARICITINIB	4	1
CORTICOTROPIN	4	1
EFALIZUMAB	4	1
GOLIMUMAB	4	1
INTERFERON ALFA-2A	4	1
LEFLUNOMIDE	4	1
MYCOPHENOLATE SODIUM	4	1
NEPAFENAC	4	1
OCRIPLASMIN	4	1
SARILUMAB	4	1
THALIDOMIDE	4	1
TOFACITINIB	4	1
IZOKIBEP	3	2
CONBERCEPT	3	1
DENUFOSOL TETRASODIUM	3	1