Isolated foveal hypoplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated foveal hypoplasia | |
| fr | Hypoplasie fovéale isolée | |
| de | Foveahypoplasie, isolierte | |
| es | Hipoplasia foveal aislada | |
| it | Ipoplasia isolata della fovea | |
| nl | Geïsoleerde foveale hypoplasie | |
| pt | Hipoplasia isolada da fóvea | |
| pl | Izolowana hipoplazja dołka środkowego siatkówki oka | |
| cs | Izolovaná foveální hypoplázie | |
| uk | Ізольована фовеальна гіпоплазія | |
| zh | 孤立性中央凹发育不良 | |
| tr | İzole foveal hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H35.8 | NTBT | attributed | validated |
| ICD-11 | 9B75.Y | NTBT | attributed | validated |
| MONDO | 0034978 | E | validated | |
| MeSH | C565005 | E | validated | |
| UMLS | C1850993 | 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 (2):
- ORPHA:717330Rare genetic isolated non-progressive predominantly macular disorder
rare genetic diseases - ORPHA:716419Rare isolated non-progressive predominantly macular disorder
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/519398
- This record as JSON: /data/d/519398.json