Chorioretinopathy, Birdshot type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BSCR |
| Number of Symptoms | 10 |
| OrphanetNr: | 179 |
| OMIM Id: |
605808
|
| ICD-10: |
H30.1 |
| UMLs: |
C1853959 |
| MeSH: |
C537630 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-infectious posterior uveitis
-Rare eye disease |
Symptom Information:
|
|
(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
|
|
(HPO:0012123) | Posterior uveitis | 1 / 7739 | ||||
|
|
(HPO:0008017) | Depigmented lesions of the retinal pigment epithelium | 1 / 7739 | ||||
|
|
(HPO:0007722) | Retinal pigment epithelial atrophy | 10 / 7739 | ||||
|
|
(HPO:0001145) | Chorioretinopathy | 3 / 7739 | ||||
|
|
(HPO:0000532) | Chorioretinal abnormality | 5 / 7739 | ||||
|
|
(HPO:0011531) | Vitritis | 2 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Particulate debris in vitreous | 1 / 7739 | ||||
|
|
(OMIM) | White painless eye | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|