Isolated optic nerve hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
A rare developmental defect during embryogenesis characterized by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the ''double-ring'' sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated optic nerve hypoplasia | |
| fr | Hypoplasie isolée du nerf optique | |
| de | Sehnerv-Hypoplasie, isolierte | |
| es | Hipoplasia aislada del nervio óptico | |
| it | Ipoplasia isolata del nervo ottico | |
| nl | Geïsoleerde hypoplasie van oogzenuw | Geïsoleerde hypoplasie van nervus opticus |
| pt | Hipoplasia isolada do nervo óptico | |
| pl | Izolowana hipoplazja nerwu wzrokowego | |
| cs | Izolovaná hypoplázie zrakového nervu | |
| uk | Ізольована гіпоплазія 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 | LA13.70 | E | specific | validated |
| MONDO | 0008136 | E | validated | |
| MONDO | 8136 | E | validated | |
| MeSH | C563492 | E | validated | |
| UMLS | C4510723 | 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:137902OBSOLETE: Isolated optic nerve hypoplasia/aplasia 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 | 25 cases | Worldwide | Case(s) | Validated | 24082663[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24082663[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/637061
- This record as JSON: /data/d/637061.json