RETINITIS PIGMENTOSA 7

General Information (adopted from Orphanet):

Synonyms, Signs: RP7 RETINITIS PIGMENTOSA 7, DIGENIC, INCLUDED
RETINITIS PIGMENTOSA 7 WITH BULL&#39
S-EYE MACULOPATHY, INCLUDED
Number of Symptoms 7
OrphanetNr:
OMIM Id: 608133
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
2
(HPO:0000512) Abnormal electroretinogram 61 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000533) Chorioretinal atrophy rare [HPO:skoehler] 24 / 7739
5
(HPO:0001146) Pigmentary retinal degeneration 15 / 7739
6
(HPO:0007830) Adult-onset night blindness 2 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

PRPH2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Farrar et al. (1991) reported a large Irish family with late-onset autosomal dominant retinitis pigmentosa. The early stages of the disease were characterized by pigmentary deposits mainly in the inferior retinal midperiphery. There was loss of superior visual fields ...
Molecular genetics OMIM In a large Irish family with late-onset autosomal dominant retinitis pigmentosa, Farrar et al. (1991) identified a 3-bp deletion in the RDS gene (179605.0001). Wells et al. (1993) identified the same mutation in another family with autosomal dominant retinitis ...