Reticular dystrophy of the retinal pigment epithelium
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Unknown
- Age of onset
- Adult
- Status
- active
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reticular dystrophy of the retinal pigment epithelium | |
| fr | Dystrophie réticulée de l'épithélium pigmentaire rétinien | |
| de | Netzhautdystrophie des retinalen Pigmentepithels | |
| es | Distrofia reticular del epitelio pigmentario de la retina | |
| it | Distrofia reticolare dell'epitelio pigmentato retinico | |
| nl | Reticulaire dystrofie van retinaal pigmentepitheel | |
| pt | Distrofia reticular do epitélio pigmentar da retina | |
| pl | Dystrofia siateczkowata nabłonka barwnikowego siatkówki | |
| cs | Retikulární dystrofie retinálního pigmentového epitelu | |
| uk | Ретикулярна дистрофія пігментного епітелію сітківки | |
| zh | 视网膜色素上皮网状营养不良 | |
| tr | Retina pigment epitelinin retiküler distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179840 | BTNT | validated | |
| OMIM | 267800 | BTNT | validated | |
| OMIM | 617175 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0009979 | E | validated | |
| MeSH | C566721 | E | validated | |
| UMLS | C1867332 | 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:63454Pattern dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RCBTB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18243 | ENSG00000136144 | 607867 | 13q14.2 | RCC1 and BTB domain containing protein 1 | 27486781[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 23619632[PMID]_27486781[PMID]_17563005[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23619632[PMID]_27486781[PMID]_17563005[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99002
- This record as JSON: /data/d/99002.json