Bilateral acute depigmentation of the iris
Synonyms: BADI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral acute depigmentation of the iris | BADI |
| fr | Dépigmentation aiguë bilatérale des iris | = en |
| de | Irisdepigmentierung, akute bilaterale | = en |
| es | Despigmentación aguda bilateral del iris | = en |
| it | Depigmentazione bilaterale acuta dell'iride | |
| nl | Bilaterale acute irisdepigmentatie | = en |
| pt | Despigmentação aguda bilateral da íris | |
| pl | Ostre obustronne odbarwienie tęczówki | = en |
| cs | Akutní bilaterální depigmentace duhovky | = en |
| uk | Двостороння гостра депігментація райдужної оболонки | = en |
| zh | 急性双侧虹膜色素脱失 | = en |
| tr | İrisin iki taraflı akut depigmentasyonu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | 9A90.1 | NTBT | index | validated |
| MONDO | 0019074 | E | validated | |
| UMLS | C4304058 | 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:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 62 cases | Worldwide | Case(s) | Validated | 23812527[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23812527[PMID] |
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
10 annotations · validated 2016-08-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008034 | Abnormal iris pigmentation | Diagnostic criterion |
| HP:0007990 | Hypoplastic iris stroma | |
| Frequent (79-30%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0011488 | Abnormal corneal endothelium morphology | |
| HP:0012372 | Abnormal eye morphology | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
| Occasional (29-5%) | ||
| HP:0012634 | Iris pigment dispersion | |
| HP:0012631 | Pigment deposition in the trabecular meshwork | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21531477[PMID]_27224078[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69736
- This record as JSON: /data/d/69736.json