Fundus albipunctatus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fundus albipunctatus | |
| fr | Fundus albipunctatus | |
| de | Fundus albipunctatus | |
| es | Fundus albipunctatus | |
| it | Fondo albipuntato | |
| nl | Fundus albipunctatus | |
| pt | Fundus albipunctatus | |
| pl | Dno białoplamiste | |
| cs | Fundus albipunctatus | |
| uk | Біле очне дно (Fundus albipunctatus) | |
| zh | 白点状眼底 | |
| tr | Fundus albipunktatus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136880 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0007639 | E | validated | |
| MeSH | C562733 | E | validated | |
| UMLS | C0311338 | 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:215Congenital stationary night blindness
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPH2 | Candidate gene tested in | Not yet assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | |
| RDH5 | Disease-causing germline mutation(s) in | Assessed | HGNC:9940 | ENSG00000135437 | 601617 | 12q13.2 | retinol dehydrogenase 5 | 22736946[PMID]_25820994[PMID] |
| RLBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10024 | ENSG00000140522 | 180090 | 15q26.1 | retinaldehyde binding protein 1 | 21447491[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | 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/227796
- This record as JSON: /data/d/227796.json