Persistent hyperplastic primary vitreous
Synonyms: Congenital retinal detachment · NCRNA disease · Non-syndromic congenital retinal non-attachment · PFVS · PHPV · Persistent fetal vasculature syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Persistent hyperplastic primary vitreous | Congenital retinal detachment · NCRNA disease · Non-syndromic congenital retinal non-attachment · PFVS · PHPV · Persistent fetal vasculature syndrome |
| fr | Persistance du vitré primitif | Cécité congénitale par défaut d'attachement de la rétine · Décollement congenital de la rétine · PFVS · PHPV · Vascularisation foetale persistante |
| de | Persistierender hyperplastischer primärer Vitreus | Kongenitale Netzhautablösung · NCRNA-Krankheit · PFVS · PHPV-Syndrom · Persistierende fetale vaskuläre Strukturen |
| es | Vítreo primario hiperplásico persistente | Desprendimiento de retina congénito · Enfermedad NCRNA · Falta de adhesión de la retina congénita no sindrómica · PFVS · Persistencia hiperplásica de vítreo primario · Síndrome de persistencia de la vascularización fetal · VPHP |
| it | Vitreo primitivo iperplastico persistente | PFVS · PHPV · Sindrome da persistenza della vascolarizzazione fetale |
| nl | Persisterend hyperplastisch primair glasvocht | Congenitale netvliesloslating · NCRNA-ziekte · Niet-syndromale congenitale netvliesloslating · PFVS · PHPV · Syndroom van persisterende foetale vasculatuur |
| pt | Vítreo primário hiperplásico persistente | |
| pl | Przetrwałe hiperplastyczne pierwotne ciało szkliste | PFVS · PHPV · Choroba NCRNA · Wrodzone odwarstwienie siatkówki · Zespół przetrwałego unaczynienia płodowego |
| cs | Perzistující hyperplastický primární sklivec | PFVS · PHPV · Perzistující fetální vaskulatura · Perzistence primárního sklivce |
| uk | Персистуюче гіперпластичне первинне склоподібне тіло | Вроджене відшарування сітківки · NCRNA-захворювання · Несиндромне вроджене неприкріплення сітківки · Персистуючий судинний синдром плода · PFVS · PHPV |
| zh | 持续性原始玻璃体增生症 | 非综合征性先天性视网膜不附着 |
| tr | Kalıcı hiperplastik primer vitröz | PFVS · PHPV · NCRNA hastalığı · Doğumsal retina dekolmanı · Kalıcı fetal vaskülatür sendrom · Sendromik olmayan doğumsal retinal bağlanmaması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221900 | BTNT | validated | |
| OMIM | 611308 | BTNT | validated | |
| ICD-10 | Q14.0 | NTBT | attributed | validated |
| ICD-11 | LA13.Y | NTBT | index | validated |
| MONDO | 0019631 | E | validated | |
| MeSH | D054514 | E | validated | |
| UMLS | C0266568 | 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:716435Rare non-progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:300337OBSOLETE: Congenital blindness due to retinal non-attachment referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATOH7 | Disease-causing germline mutation(s) in | Assessed | HGNC:13907 | ENSG00000179774 | 609875 | 10q21.3 | atonal bHLH transcription factor 7 | 22645276[PMID] |
| FZD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:4042 | ENSG00000174804 | 604579 | 11q14.2 | frizzled class receptor 4 | 19172507[PMID]_20092598[PMID]_20301506[PMID] |
| NDP | Disease-causing germline mutation(s) in | Assessed | HGNC:7678 | ENSG00000124479 | 300658 | Xp11.3 | norrin cystine knot growth factor NDP | 20301506[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
24 annotations · validated 2021-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007968 | Remnants of the hyaloid vascular system | Pathognomonic sign |
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0007957 | Corneal opacity | |
| HP:0000555 | Leukocoria | |
| HP:0000568 | Microphthalmia | |
| HP:0007663 | Reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0012109 | Angle closure glaucoma | |
| HP:0000519 | Developmental cataract | |
| HP:0030743 | Glial remnants anterior to the optic disc | |
| HP:0030744 | Hyaloid vascular remnant and retrolental mass | |
| HP:0009917 | Persistent pupillary membrane | |
| HP:0007917 | Tractional retinal detachment | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0000618 | Blindness | |
| HP:0000557 | Buphthalmos | |
| HP:0009926 | Epiphora | |
| HP:0011885 | Hemorrhage of the eye | |
| HP:0001104 | Macular hypoplasia | |
| HP:0000482 | Microcornea | |
| HP:0000667 | Phthisis bulbi | |
| HP:0008052 | Retinal fold | |
| HP:0000594 | Shallow anterior chamber | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0010766 | Ectopic calcification | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30375202[PMID]_33728125[PMID]_29207745[PMID]_27582535 [PMID]_29031676[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91495
- This record as JSON: /data/d/91495.json