Congenital cystic eye
Synonyms: Congenital anophthalmos with cyst
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal
- Status
- active
A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cystic eye | Congenital anophthalmos with cyst |
| fr | Oeil kystique congénital | Anophtalmie congénitale avec kyste |
| de | Zystenauge, kongenitales | Kongenitale Anophthalmie mit Zysten |
| es | Ojo quístico congénito | Anoftalmos congénito con quiste |
| it | Occhio cistico congenito | |
| nl | Congenitaal cystisch oog | Congenitale anoftalmie met cyste |
| pt | Quisto ocular congénito | |
| pl | Wrodzona torbiel oka | = en |
| cs | Vrozený cystický oční bulbus | = en |
| uk | Вроджена кістозна хвороба ока | Вроджений анофтальм з кістою |
| zh | 先天性囊性眼 | 先天性囊性无眼畸形 |
| tr | Doğumsal kistik göz | Kist ile seyreden doğumsal anoftalmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q11.0 | E | specific | validated |
| ICD-11 | LA10.Y | NTBT | index | validated |
| MONDO | 0022825 | E | validated | |
| UMLS | C0158543 | E | validated | |
| GARD | 10617 | E | validated | |
| MedDRA | 10011761 | 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:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; 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 | 52 cases | Worldwide | Case(s) | Validated | 35656543[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35656543[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/519384
- This record as JSON: /data/d/519384.json