RETINITIS PIGMENTOSA 37

General Information (adopted from Orphanet):

Synonyms, Signs: RP37
Number of Symptoms 13
OrphanetNr:
OMIM Id: 611131
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0007688) Undetectable light- and dark-adapted electroretinogram 9 / 7739
2
(HPO:0008028) Cystoid macular degeneration 3 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000518) Cataract 454 / 7739
6
(HPO:0000552) Tritanomaly 6 / 7739
7
(HPO:0000642) Red-green dyschromatopsia 25 / 7739
8
(HPO:0000613) Photophobia 158 / 7739
9
(HPO:0000580) Pigmentary retinopathy 49 / 7739
10
(OMIM) Three concentric rings of hyperautofluorescence - around the fovea, along the vascular arcades, and in the far periphery 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Rod-cone dystrophy on ERG (early) 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Coppieters et al. (2007) described a 4-generation Belgian family which segregated autosomal dominant retinitis pigmentosa (adRP) in 25 individuals. The phenotype corresponded to that seen in classic adRP, with progressive degeneration of rods and subsequent involvement of cones, ...
Molecular genetics OMIM In 3 families with a novel recognizable clinical subtype of autosomal dominant retinitis pigmentosa, Coppieters et al. (2007) detected a heterozygous missense mutation in the NR2E3 gene (604485.0006) in affected individuals. Homozygous mutations in the same gene cause ...