RETINITIS PIGMENTOSA 63

General Information (adopted from Orphanet):

Synonyms, Signs: RP63
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614494
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000543) Optic disc pallor 67 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000622) Blurred vision 14 / 7739
5
(OMIM) Degeneration of retinal pigment epithelium (relatively less involvement of central retina) 1 / 7739
6
(OMIM) Pigment migration 1 / 7739
7
(OMIM) Diminished or extinguished responses on electroretinography 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Arterial attenuation 1 / 7739
10
(OMIM) Good visual acuity 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kannabiran et al. (2012) described a large Indian family in which 14 of 34 individuals studied had retinitis pigmentosa. Age at presentation ranged from 16 to 65 years, and in most cases the initial symptoms consisted of night ...