Isolated megalopapilla
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated megalopapilla | |
| fr | Mégalopapille isolée | |
| de | Megalopapille, isolierte | |
| es | Megalopapila aislada | |
| it | Megalopapilla isolata | |
| nl | Geïsoleerde megalopapilla | |
| pt | Megalopapila isolada | |
| pl | Izolowane powiększenie tarczy nerwu wzrokowego | |
| cs | Izolovaná megalopapila | |
| uk | Ізольований мегалопапілляр | |
| zh | 孤立性大视乳头 | |
| tr | İzole megalopapilla |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q14.2 | NTBT | attributed | validated |
| ICD-11 | LA13.74 | E | specific | validated |
| MONDO | 0034980 | E | validated | |
| UMLS | C4302055 | 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/519402
- This record as JSON: /data/d/519402.json