Isolated optic nerve aplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated optic nerve aplasia | |
| fr | Aplasie isolée du nerf optique | |
| de | Sehnerv-Aplasie, isolierte | |
| es | Aplasia aislada del nervio óptico | |
| it | Aplasia isolata del nervo ottico | |
| nl | Geïsoleerde aplasie van oogzenuw | Geïsoleerde aplasie van nervus opticus |
| pt | Aplasia isolada do nervo óptico | |
| pl | Izolowana aplazja nerwu wzrokowego | |
| cs | Izolovaná aplázie zrakového nervu | |
| uk | Ізольована аплазія зорового нерва |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| ICD-11 | LA13.71 | E | specific | validated |
| MONDO | 0958342 | E | validated | |
| MONDO | 958342 | E | validated | |
| UMLS | C5816782 | 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 (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:522512Rare genetic optic nerve disorder
rare genetic diseases - ORPHA:519351Rare optic nerve disorder
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2705OBSOLETE: Oculocerebral dysplasia referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 29676329[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29676329[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/637064
- This record as JSON: /data/d/637064.json