Retinopathy of prematurity

General Information (adopted from Orphanet):

Synonyms, Signs: FEVR, AUTOSOMAL DOMINANT
CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY, INCLUDED
ROP, INCLUDED
EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT
EVR1
ROP
Retrolental fibroplasia
Number of Symptoms 14
OrphanetNr: 90050
OMIM Id: 133780
ICD-10: H35.1
UMLs: C0035344
MeSH: D012178
MedDRA: 10038933
Snomed: 415297005

Prevalence, inheritance and age of onset:

Prevalence: 12.2 of 100 000 [Orphanet]
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare acquired eye disease
 -Rare eye disease

Symptom Information: Sort by abundance 

1
(HPO:0001489) Posterior vitreous detachment 3 / 7739
2
(HPO:0001493) Falciform retinal fold 6 / 7739
3
(HPO:0000523) Subcapsular cataract 12 / 7739
4
(HPO:0001147) Retinal exudate 8 / 7739
5
(HPO:0007902) Vitreous hemorrhage 9 / 7739
6
(HPO:0000618) Blindness 124 / 7739
7
(HPO:0007685) Peripheral retinal avascularization 3 / 7739
8
(HPO:0000505) Visual impairment 297 / 7739
9
(HPO:0002757) Recurrent fractures 47 / 7739
10
(OMIM) Retinal neovascularization 1 / 7739
11
(OMIM) Vitreoretinal traction 1 / 7739
12
(OMIM) Macular ectopia 2 / 7739
13
(OMIM) Low bone density 2 / 7739
14
(OMIM) Partial-total retinal detachment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected ...
Clinical Description OMIM Familial exudative vitreoretinopathy was first described by Criswick and Schepens (1969) on the basis of 6 patients in 2 kindreds. The findings bore some similarities to retrolental fibroplasia and to Coats disease (see 300216). The changes were slowly ...
Molecular genetics OMIM In affected members of families with the form of FEVR mapping to 11q13-q23, EVR1, Robitaille et al. (2002) identified mutations in the FZD4 gene (604579.0001-604579.0002).

Kondo et al. (2003), Yoshida et al. (2004), and Qin et ...