RETINOSCHISIS OF FOVEA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 268080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0012152) Foveoschisis 3 / 7739
2
 (HPO:0007754) Macular dystrophy 26 / 7739
3
 (HPO:0000540) Hypermetropia 99 / 7739
4
 (HPO:0000512) Abnormal electroretinogram 61 / 7739
5
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
6
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
7
 (HPO:0000662) Nyctalopia 92 / 7739
8
 (HPO:0000572) Visual loss 272 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Paramacular tapetal sheen reflex 1 / 7739
11
 (OMIM) Bilateral foveal dystrophy 1 / 7739
12
 (OMIM) Foveal retinoschisis 1 / 7739
13
 (OMIM) Mild visual loss 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lewis et al. (1977) reported 3 sisters (including a set of identical twins), of nonconsanguineous parents, with mild visual loss and bilateral foveal dystrophy closely resembling that of juvenile X-linked retinoschisis (312700). Electrophysiologic changes were less severe than ...