Retinopathy of prematurity
Synonyms: ROP · Retrolental fibroplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinopathy of prematurity | ROP · Retrolental fibroplasia |
| fr | Rétinopathie du prématuré | Fibroplasie rétrolentale · ROP |
| de | Frühgeborenen-Retinopathie | ROP · Retrolentale Fibroplasie |
| es | Retinopatía del prematuro | |
| it | Retinopatia del prematuro | |
| nl | Prematurenretinopathie | ROP · Retrolentale fibroplasie |
| pt | Retinopatia da prematuridade | |
| pl | Retinopatia wcześniaków | = en |
| cs | Retinopatie nedonošených | ROP · Retrolentální fibroplázie · RLF |
| uk | Ретинопатія недоношених | Ретролентальна фіброплазія · ROP |
| zh | 早产儿视网膜病 | 晶体后纤维增生症 |
| tr | Prematüre retinopatisi | ROP · Retrolental fibroplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133780 | NTBT | validated | |
| ICD-10 | H35.1 | E | specific | validated |
| ICD-11 | 9B71.3 | E | specific | validated |
| MONDO | 0006952 | E | validated | |
| MeSH | D012178 | E | validated | |
| UMLS | C0035344 | E | validated | |
| GARD | 5695 | E | validated | |
| MedDRA | 10038933 | 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:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FZD4 | Major susceptibility factor in | Assessed | HGNC:4042 | ENSG00000174804 | 604579 | 11q14.2 | frizzled class receptor 4 | 23441120[PMID] |
| LRP5 | Major susceptibility factor in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 23441120[PMID] |
| NDP | Major susceptibility factor 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 | 1-5 / 10 000 | — | 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
15 annotations · validated 2023-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0001622 | Premature birth | |
| HP:0500049 | Retinopathy of prematurity | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001103 | Abnormal macular morphology | |
| HP:0000646 | Amblyopia | |
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0000501 | Glaucoma | |
| HP:0000545 | Myopia | |
| HP:0007663 | Reduced visual acuity | |
| HP:0001136 | Retinal arteriolar tortuosity | |
| HP:0000486 | Strabismus | |
| HP:0007917 | Tractional retinal detachment | |
| HP:0007902 | Vitreous hemorrhage | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32965990[PMID]_28420777[PMID]_3839410[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90050
- This record as JSON: /data/d/90050.json