Retinitis punctata albescens
Synonyms: RPA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinitis punctata albescens | RPA |
| fr | Rétinite ponctuée albescente | = en |
| de | Retinitis punctata albescens | |
| es | Retinitis punctata albescens | |
| it | Retinite puntata albescens | |
| nl | Retinitis punctata albescens | |
| pt | Retinite pontuada albescens | Fundus albipunctatus |
| pl | Zapalenie siatkówki kropkowate bielejące | = en |
| cs | Retinitis punctata albescens | = en |
| uk | Ретиніт по типу білих цяток | = en |
| zh | 白点状视网膜炎 | = en |
| tr | Retinitis punktata beyazlaması | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136880 | NTBT | validated | |
| ICD-10 | H35.5 | NTBT | index | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0018877 | E | validated | |
| UMLS | C1405854 | 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:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RDH5 | Candidate gene tested in | Not yet assessed | HGNC:9940 | ENSG00000135437 | 601617 | 12q13.2 | retinol dehydrogenase 5 | |
| RHO | Candidate gene tested in | Not yet assessed | HGNC:10012 | ENSG00000163914 | 180380 | 3q22.1 | rhodopsin | 8554077[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 8485575[PMID] |
| RLBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10024 | ENSG00000140522 | 180090 | 15q26.1 | retinaldehyde binding protein 1 | 10102299[PMID]_15234312[PMID]_15953459[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.125 / 100 000 | Worldwide | Value and class | Validated | 23929416[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.175 / 100 000 | Europe | Value and class | Validated | ORPHANET_European Medecines Agency 2016[OTHER] |
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
19 annotations · validated 2019-05-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008323 | Abnormal light- and dark-adapted electroretinogram | |
| HP:0030825 | Absent foveal reflex | |
| HP:0000662 | Nyctalopia | |
| HP:0000529 | Progressive visual loss | |
| HP:0030506 | Yellow/white lesions of the retina | |
| Frequent (79-30%) | ||
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0000603 | Central scotoma | |
| HP:0007994 | Peripheral visual field loss | |
| HP:0000613 | Photophobia | |
| HP:0007675 | Progressive night blindness | |
| HP:0007987 | Progressive visual field defects | |
| HP:0007814 | Retinal pigment epithelial mottling | |
| Occasional (29-5%) | ||
| HP:0031605 | Abnormality of fundus pigmentation | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0011505 | Cystoid macular edema | |
| HP:0001142 | Lenticonus | |
| HP:0007401 | Macular atrophy | |
| HP:0001105 | Retinal atrophy | |
| Very rare (<4-1%) | ||
| HP:0000580 | Pigmentary retinopathy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 23929416[PMID]_28764803[PMID]_14718298[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52427
- This record as JSON: /data/d/52427.json