Eales disease

Summary

Eales disease (MONDO:0018460) is a disease. A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 30

Clinical features

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0002315	Headache	Frequent (30-79%)
HP:0007902	Vitreous hemorrhage	Frequent (30-79%)
HP:0025188	Retinal vasculitis	Frequent (30-79%)
HP:0000421	Epistaxis	Occasional (5-29%)
HP:0000501	Glaucoma	Occasional (5-29%)
HP:0000543	Optic disc pallor	Occasional (5-29%)
HP:0000618	Blindness	Occasional (5-29%)
HP:0000707	Abnormality of the nervous system	Occasional (5-29%)
HP:0002019	Constipation	Occasional (5-29%)
HP:0002313	Spastic paraparesis	Occasional (5-29%)
HP:0007052	Multifocal cerebral white matter abnormalities	Occasional (5-29%)
HP:0007663	Reduced visual acuity	Occasional (5-29%)
HP:0007917	Tractional retinal detachment	Occasional (5-29%)
HP:0011497	Iris neovascularization	Occasional (5-29%)
HP:0011505	Cystoid macular edema	Occasional (5-29%)
HP:0011531	Vitritis	Occasional (5-29%)
HP:0012122	Anterior uveitis	Occasional (5-29%)
HP:0012230	Rhegmatogenous retinal detachment	Occasional (5-29%)
HP:0030329	Retinal thinning	Occasional (5-29%)
HP:0030652	Vitreous haze	Occasional (5-29%)
HP:0030667	Peripheral retinal neovascularization	Occasional (5-29%)
HP:0030773	Internuclear ophthalmoplegia	Occasional (5-29%)
HP:0030786	Photopsia	Occasional (5-29%)
HP:0040049	Macular edema	Occasional (5-29%)
HP:0100832	Vitreous floaters	Occasional (5-29%)
HP:0002140	Ischemic stroke	Very rare (<1-4%)
HP:0002196	Myelopathy	Very rare (<1-4%)
HP:0002326	Transient ischemic attack	Very rare (<1-4%)
HP:0025239	Subhyaloid hemorrhage	Very rare (<1-4%)
HP:0100014	Epiretinal membrane	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Eales disease
Mondo ID	MONDO:0018460
MeSH	C538011
Orphanet	40923
ICD-11	945788847
SNOMED CT	54122009
UMLS	C0271073
MedGen	75733
GARD	0006309
MedDRA	10057429
NORD	1076
Is cancer (heuristic)	no

Also known as: idiopathic obliterative vasculopathy · idiopathic recurrent vitreal haemorrhage · idiopathic recurrent vitreal hemorrhage · idiopathic retinal perivasculitis · idiopathic retinal vasculitis

Disease family

This is a subtype of retinal 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 › nervous system disorder › retinal disorder › Eales disease

Related subtypes (31): retinal ischemia, rubeosis iridis, retinal vascular disorder, retinitis, retinal nerve fiber layer disorder, retinal edema, retinal degeneration, night blindness, hypertensive retinopathy, macular holes, retinal detachment, iris hypoplasia with glaucoma, angioid streaks, bradyopsia, myopic macular degeneration, osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome, congenital retinal arteriovenous communication, central serous chorioretinopathy, achromatopsia, cancer-associated retinopathy, persistent placoid maculopathy, inherited vitreoretinopathy, retina neoplasm, retinal ciliopathy, melanoma associated retinopathy, isolated foveal hypoplasia, acute macular neuroretinopathy, autoimmune retinopathy, proliferative vitreoretinopathy, isolated chorioretinal dystrophy, torpedo maculopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.