Bothnia retinal dystrophy
Synonyms: Västerbotten dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bothnia retinal dystrophy | Västerbotten dystrophy |
| fr | Dystrophie rétinienne type Bothnie | Dystrophie rétinienne type Botnie · Dystrophie type Västerbotten |
| de | Netzhautdystrophie Typ Bottnien | Västerbotten-Dystrophie |
| es | Distrofia retiniana de Bothnia | Distrofia de Västerbotten |
| it | Distrofia retinica di Bothnia | Distrofia di Västerbotten |
| nl | Retinale dystrofie, Bothnia-type | Västerbotten-dystrofie |
| pt | Retiniana tipo Bothnia, distrofia | |
| pl | Dystrofia siatkówki Bothnia | Dystrofia Västerbottena |
| cs | Botnická retinální dystrofie | Västerbottenova dystrofie |
| uk | Дистрофія сітківки, тип Ботнія | Дистрофія Вестерботтена |
| zh | Bothnia视网膜营养不良 | Västerbotten营养不良 |
| tr | Bothnia retina distrofisi | Västerbotten distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607475 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0011838 | E | validated | |
| MeSH | C564392 | E | validated | |
| UMLS | C1843816 | 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 (3):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - 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 |
|---|---|---|---|---|---|---|---|---|
| RLBP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10024 | ENSG00000140522 | 180090 | 15q26.1 | retinaldehyde binding protein 1 | 10102298[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_10102298[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
23 annotations · validated 2021-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030469 | Abnormal dark-adapted electroretinogram | |
| HP:0000551 | Color vision defect | |
| HP:0030618 | Increased OCT-measured foveal thickness | |
| HP:0000529 | Progressive visual loss | |
| HP:0030474 | Undetectable dark-adapted electroretinogram | |
| HP:0001123 | Visual field defect | |
| Frequent (79-30%) | ||
| HP:0000493 | Abnormal foveal morphology | |
| HP:0000539 | Abnormality of refraction | |
| HP:0000608 | Macular degeneration | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000546 | Retinal degeneration | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| HP:0032118 | Retinitis | |
| Occasional (29-5%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0000603 | Central scotoma | |
| HP:0007984 | Electronegative electroretinogram | |
| HP:0001129 | Large central visual field defect | |
| HP:0000662 | Nyctalopia | |
| HP:0030528 | Paracentral scotoma | |
| HP:0007722 | Retinal pigment epithelial atrophy | |
| HP:0030529 | Ring scotoma | |
| HP:0000510 | Rod-cone dystrophy | |
| Excluded (0%) | ||
| HP:0007737 | Bone spicule pigmentation of the retina | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25429852 [PMID]_22551409[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85128
- This record as JSON: /data/d/85128.json