ORPHA:71505
Cancer-associated retinopathy
Synonyms: CAR syndrome · Paraneoplastic retinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare paraneoplastic disease of the eye characterized by the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cancer-associated retinopathy | CAR syndrome · Paraneoplastic retinopathy |
| fr | Rétinopathie paranéoplasique | |
| de | Retinopathie, karzinomassoziierte | CAR · Krebs-assoziierte Retinopathie · Retinopathie, paraneoplastische |
| es | Retinopatía asociada a cancer | Retinopatía paraneoplásica · Síndrome CAR |
| it | Retinopatia associata al tumore | Retinopatia paraneoplastica · Sindrome CAR |
| nl | Kankergeassocieerde retinopathie | CAR-syndroom · Paraneoplastische retinopathie |
| pt | Retinopatia associada a cancro | Retinopatia paraneoplásica · Síndrome CAR |
| pl | Retinopatia towarzysząca nowotworom | Retinopatia paraneoplastyczna · Zespół CAR |
| cs | Retinopatie asociovaná s rakovinou | CAR syndrom · Paraneoplastická retinopatie |
| uk | Ретинопатія, асоційована з раком | CAR-синдром · Паранеопластична ретинопатія |
| zh | 肿瘤相关视网膜病 | 副肿瘤性视网膜病变 |
| tr | Kanser-ilişkili retinopati | CAR sendromu · Paraneoplastik retinopati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.8 | NTBT | attributed | validated |
| ICD-11 | 9B71.4 | E | specific | validated |
| MONDO | 0019112 | E | validated | |
| MeSH | D059545 | E | validated | |
| UMLS | C0730307 | E | validated | |
| MedDRA | 10065311 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:36388Paraneoplastic neurologic syndrome
rare neurological diseases - ORPHA:730376Rare acquired isolated progressive generalized retinal disorder
rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
36 annotations · validated 2021-01-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007830 | Adult-onset night blindness | |
| HP:6000882 | Anti-recoverin antibody positivity | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0007984 | Electronegative electroretinogram | |
| HP:0033020 | Female reproductive system neoplasm | |
| HP:0006758 | Malignant genitourinary tract tumor | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0000613 | Photophobia | |
| HP:0030786 | Photopsia | |
| HP:0007987 | Progressive visual field defects | |
| HP:0007663 | Reduced visual acuity | |
| HP:0030357 | Small cell lung carcinoma | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0000603 | Central scotoma | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0007641 | Dyschromatopsia | |
| HP:0030627 | Foveal hyporeflective spaces on macular OCT | |
| HP:0007793 | Granular macular appearance | |
| HP:0004377 | Hematological neoplasm | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0000543 | Optic disc pallor | |
| HP:0030528 | Paracentral scotoma | |
| HP:0001105 | Retinal atrophy | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0010788 | Testicular neoplasm | |
| HP:0100522 | Thymoma | |
| HP:0010784 | Uterine neoplasm | |
| Very rare (<4-1%) | ||
| HP:0003003 | Colon cancer | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0000648 | Optic atrophy | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0012125 | Prostate cancer | |
| HP:0002367 | Visual hallucinations | |
| HP:0011531 | Vitritis | |
Annotation source: 31670788[PMID]_29784239[PMID]_31712238[PMID]_31742740[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71505
- This record as JSON: /data/d/71505.json