Cancer-associated retinopathy

Summary

Cancer-associated retinopathy (MONDO:0019112) is a cancer. A subtype of retinal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 36

Clinical features

Signs & symptoms

Clinical features (HPO)

36 HPO clinical features (Orphanet curated; top 36 by frequency):

HPO ID	Term	Frequency
HP:0000572	Visual loss	Frequent (30-79%)
HP:0000613	Photophobia	Frequent (30-79%)
HP:0006758	Malignant genitourinary tract tumor	Frequent (30-79%)
HP:0007663	Reduced visual acuity	Frequent (30-79%)
HP:0007830	Adult-onset night blindness	Frequent (30-79%)
HP:0007984	Electronegative electroretinogram	Frequent (30-79%)
HP:0007987	Progressive visual field defects	Frequent (30-79%)
HP:0030057	Autoimmune antibody positivity	Frequent (30-79%)
HP:0030357	Small cell lung carcinoma	Frequent (30-79%)
HP:0030786	Photopsia	Frequent (30-79%)
HP:0033020	Female reproductive system neoplasm	Frequent (30-79%)
HP:0100013	Neoplasm of the breast	Frequent (30-79%)
HP:6000882	Anti-recoverin antibody positivity	Frequent (30-79%)
HP:0000543	Optic disc pallor	Occasional (5-29%)
HP:0000603	Central scotoma	Occasional (5-29%)
HP:0001105	Retinal atrophy	Occasional (5-29%)
HP:0001133	Constriction of peripheral visual field	Occasional (5-29%)
HP:0004377	Hematological neoplasm	Occasional (5-29%)
HP:0007641	Dyschromatopsia	Occasional (5-29%)
HP:0007722	Retinal pigment epithelial atrophy	Occasional (5-29%)
HP:0007793	Granular macular appearance	Occasional (5-29%)
HP:0010784	Uterine neoplasm	Occasional (5-29%)
HP:0010788	Testicular neoplasm	Occasional (5-29%)
HP:0012189	Hodgkin lymphoma	Occasional (5-29%)
HP:0030528	Paracentral scotoma	Occasional (5-29%)
HP:0030627	Foveal hyporeflective spaces on macular OCT	Occasional (5-29%)
HP:0100275	Diffuse cerebellar atrophy	Occasional (5-29%)
HP:0100522	Thymoma	Occasional (5-29%)
HP:0000648	Optic atrophy	Very rare (<1-4%)
HP:0002367	Visual hallucinations	Very rare (<1-4%)
HP:0002894	Neoplasm of the pancreas	Very rare (<1-4%)
HP:0003003	Colon cancer	Very rare (<1-4%)
HP:0006725	Pancreatic adenocarcinoma	Very rare (<1-4%)
HP:0011531	Vitritis	Very rare (<1-4%)
HP:0012056	Cutaneous melanoma	Very rare (<1-4%)
HP:0012125	Prostate cancer	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cancer-associated retinopathy
Mondo ID	MONDO:0019112
MeSH	D059545
Orphanet	71505
ICD-11	1216073790
SNOMED CT	404663008
UMLS	C1321315
MedGen	729915
GARD	0018912
Is cancer (heuristic)	yes

Also known as: CAR syndrome · paraneoplastic retinopathy

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 › cancer-associated retinopathy

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, Eales disease, central serous chorioretinopathy, achromatopsia, 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.