Acute zonal occult outer retinopathy
Synonyms: AZOOR
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute zonal occult outer retinopathy | AZOOR |
| fr | Rétinopathie occulte externe zonale aiguë | = en |
| de | Retinopathie, akute äußere okkulte zonale | = en |
| es | Retinopatía aguda zonal oculta externa | = en |
| it | Retinopatia acuta occulta periferica | = en |
| nl | Acute zonale occulte perifere retinopathie | = en |
| pt | Retinopatia oculta externa zonal aguda | |
| pl | Ostra zewnętrzna utajona retinopatia strefowa | = en |
| cs | Akutní zonální okultní zevní retinopatie | = en |
| uk | Гостра зональна прихована зовнішня ретинопатія | = en |
| zh | 急性带状隐匿性外视网膜病变 | = en |
| tr | Akut zonal gizli dış retinopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.0 | NTBT | attributed | validated |
| ICD-11 | 9B65.0 | NTBT | index | validated |
| MONDO | 0017298 | E | validated | |
| UMLS | C0730298 | E | validated | |
| GARD | 8640 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:730376Rare acquired isolated progressive generalized retinal disorder
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 21056448[PMID] | |
| 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.
HPO phenotypes
24 annotations · validated 2021-03-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030604 | Abnormal fundus fluorescein angiography | |
| HP:0000539 | Abnormality of refraction | |
| HP:0030644 | Blind-spot enlargment | |
| HP:0000622 | Blurred vision | |
| HP:0001133 | Constriction of peripheral visual field | |
| HP:0200057 | Marcus Gunn pupil | |
| HP:0000545 | Myopia | |
| HP:0030786 | Photopsia | |
| HP:0000575 | Scotoma | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000603 | Central scotoma | |
| HP:0012377 | Hemianopia | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0007663 | Reduced visual acuity | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0030662 | Vitreous inflammatory cells | |
| HP:0011531 | Vitritis | |
| Very rare (<4-1%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0030499 | Macular drusen | |
| HP:0000572 | Visual loss | |
Annotation source: 30578522[PMID]_30042791[PMID]_32796345[PMID]_21056448[PMID]_29572353[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284454
- This record as JSON: /data/d/284454.json