Bradyopsia

General Information (adopted from Orphanet):

Synonyms, Signs: BRADYOPSIA
PERRS
Prolonged electroretinal response supression
Number of Symptoms 2
OrphanetNr: 75374
OMIM Id: 608415
ICD-10: H53.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic vitreous-retinal disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
2
(HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kooijman et al. (1991) described 3 unrelated Dutch patients with prolonged electroretinal response suppression (PERRS) and stationary subnormal visual acuity and photophobia. Nishiguchi et al. (2004) identified an additional Dutch patient and 1 Guatemalan patient with similar visual ...
Molecular genetics OMIM In the 3 Dutch patients reported by Kooijman et al. (1991) and in a fourth Dutch patient theretofore unreported, Nishiguchi et al. (2004) detected a trp299-to-arg mutation in the RGS9 gene (604067.0001). In a Guatemalan patient from a ...