ORPHA:75374
Bradyopsia
Synonyms: PERRS · Prolonged electroretinal response suppression
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bradyopsia | PERRS · Prolonged electroretinal response suppression |
| fr | Bradyopsie | Suppression de réponse électrorétinienne prolongée |
| de | Bradyopsie | Verzögerte Zapfenadaptation (Prolonged electroretinal response supression (PERRS)) |
| es | Bradiopsia | PERRS · Supresión de la respuesta electroretineana prolongada · Supresión prolongada de la respuesta electroretiniana |
| it | Bradiopsia | Soppressione prolungata della risposta elettroretinica |
| nl | Bradyopsie | Langdurige suppressie van elektroretinale respons · PERRS |
| pt | Bradiopsia | Supressão da resposta electrorretiniana prolongada (PERRS) |
| pl | Bradyopsja | PERRS |
| cs | Bradyopsie | PERRS · Suprese prodloužené elektroretinální odpovědi |
| uk | Брадіопсія | PERRS · Тривале пригнічення електроретинальної відповіді |
| zh | 慢视症 | 视网膜电反应抑制延长 |
| tr | Bradyopsi | PERRS · Uzamış elektroretinal yanıtı bastırma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608415 | BTNT | validated | |
| OMIM | 620344 | BTNT | validated | |
| ICD-10 | H53.8 | NTBT | attributed | validated |
| ICD-11 | 9D7Y | NTBT | index | validated |
| MONDO | 0012033 | E | validated | |
| MeSH | C564243 | E | validated | |
| UMLS | C1842073 | E | validated | |
| GARD | 12299 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716367Rare isolated non-progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RGS9 | Disease-causing germline mutation(s) in | Assessed | HGNC:10004 | ENSG00000108370 | 604067 | 17q24.1 | regulator of G protein signaling 9 | 14702087[PMID] |
| RGS9BP | Disease-causing germline mutation(s) in | Assessed | HGNC:30304 | ENSG00000186326 | 607814 | 19q13.11 | regulator of G protein signaling 9 binding protein | 14702087[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 14702087[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14702087[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000613 | Photophobia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75374
- This record as JSON: /data/d/75374.json