Congenital stationary night blindness
Synonyms: Congenital essential nyctalopia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital stationary night blindness | Congenital essential nyctalopia |
| fr | Cécité nocturne stationnaire congénitale | Héméralopie congénitale essentielle |
| de | Nachtblindheit, kongenitale stationäre | Nyktalopie, essentielle kongenitale |
| es | Ceguera nocturna estacionaria congénita | Ceguera nocturna estable congénita · Nictalopia esencial congénita |
| it | Cecità notturna stazionaria congenita | Nictalopia essenziale congenita |
| nl | Congenitale stationaire nachtblindheid | Congenitale essentiële nyctalopie |
| pt | Cegueria noturna estacionária congénita | Hemeralopia congénita essencial |
| pl | Wrodzona stacjonarna ślepota nocna | Wrodzona ślepota nocna |
| cs | Vrozená stacionární noční slepota | Vrozená nyktalopie |
| uk | Вроджена нічна сліпота | Вроджена есенціальна нікталопія |
| zh | 先天性静止性夜盲症 | 先天性原发夜盲症 |
| tr | Doğumsal sabit gece körlüğü | Doğumsal esansiyel niktalopi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H53.6 | NTBT | attributed | validated |
| ICD-11 | 9D45 | NTBT | index | validated |
| MONDO | 0016293 | E | validated | |
| MONDO | 16293 | E | validated | |
| MeSH | C536122 | E | validated | |
| UMLS | C0339535 | E | validated | |
| GARD | 3995 | 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:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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
15 annotations · validated 2020-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030469 | Abnormal dark-adapted electroretinogram | |
| HP:0000545 | Myopia | |
| HP:0000662 | Nyctalopia | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0030639 | Congenital stationary night blindness with abnormal fundus | |
| HP:0030638 | Congenital stationary night blindness with normal fundus | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0031705 | Compensatory head posture | |
| HP:0007984 | Electronegative electroretinogram | |
| HP:0000540 | Hypermetropia | |
| HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | |
| Very rare (<4-1%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000551 | Color vision defect | |
| HP:0030329 | Retinal thinning | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301423[PMID]_30578486[PMID]_25307992[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/215
- This record as JSON: /data/d/215.json