Progressive bifocal chorioretinal atrophy
Synonyms: CRAPB · PBCRA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic isolated chorioretinal dystrophy characterized by distinctive slowly progressing chorioretinal atrophic lesions inducing significant visual impairment. There are three clinical stages. Atrophic macular lesion and nasal subretinal deposits are evident soon after birth (stage 1), the macular lesions progress beyond the retinal vascular arcades, and the foci of nasal atrophy coalesce into a confluent white lesion (stage 2), and marked expansion of both the macular and the nasal atrophic lesions toward the optic disc is observed (stage 3). Patients may also present with photophobia, nystagmus and myopia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive bifocal chorioretinal atrophy | CRAPB · PBCRA |
| fr | Atrophie bifocale choriorétinienne progressive | |
| de | Atrophie, bifokale chorioretinale progressive | PBCRA · Progressive bifokale chorioretinale Atrophie |
| es | Atrofia progresiva bifocal de la coroides y la retina | Atrofia coriorretiniana bifocal progresiva |
| it | Atrofia corioretinica bifocale progressiva | |
| nl | Progressieve bifocale chorioretinale atrofie | = en |
| pt | Atrofia coriorretiniana bifocal progressiva | Atrofia coriorretiniana bifocal progressiva · CRAPB |
| pl | Postępujący dwuogniskowy zanik błony naczyniowej i siatkówki | = en |
| cs | Progresivní bifokální chorioretinální atrofie | = en |
| uk | Прогресуюча біфокальна хоріоретинальна атрофія | = en |
| zh | 进行性双焦点型脉络膜视网膜萎缩 | = en |
| tr | İlerleyici bifokal koryoretinal atrofi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600790 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0010932 | E | validated | |
| MeSH | C535356 | E | validated | |
| UMLS | C1833321 | E | validated | |
| GARD | 10123 | 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:717317Rare genetic isolated progressive predominantly chorioretinal disorder
rare genetic diseases - ORPHA:716348Rare isolated progressive predominantly chorioretinal disorder
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHS6S1 | Disease-causing germline mutation(s) in | Assessed | 616842 | 6q16.2 | DNase1 hypersensitivity, chromosome 6, site 1 | 30710461[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 5686965[PMID]_8541856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5686965[PMID]_8541856[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.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001135 | Chorioretinal dystrophy | |
| HP:0000565 | Esotropia | |
| HP:0007401 | Macular atrophy | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000580 | Pigmentary retinopathy | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 8541856[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75373
- This record as JSON: /data/d/75373.json