Optic disc pit
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Optic disc pit | |
| fr | Fossette colobomateuse de la papille | |
| de | Grubenpapille | |
| es | Fosa del disco óptico | |
| it | Infossamento del disco ottico | |
| nl | Putje in papil | |
| pt | Disco óptico escavado | |
| pl | Dołek rozwojowy tarczy nerwu wzrokowego | |
| cs | Jamka terče zrakového nervu | |
| uk | Яма оптичного диска | |
| zh | 视神经盘凹陷 | |
| tr | Optik disk çukuru |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q14.2 | NTBT | attributed | validated |
| ICD-11 | LA13.7Y | NTBT | index | validated |
| MONDO | 0034981 | E | validated | |
| UMLS | C0338504 | E | validated | |
| MedDRA | 10079967 | 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:519333Congenital optic disc excavation
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/519404
- This record as JSON: /data/d/519404.json