RETINITIS PIGMENTOSA 30

General Information (adopted from Orphanet):

Synonyms, Signs: RP30
Number of Symptoms 8
OrphanetNr:
OMIM Id: 607921
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:0000662) Nyctalopia 11527955 IBIS 92 / 7739
2
 (HPO:0000510) Rod-cone dystrophy 11527955 IBIS 266 / 7739
3
 (HPO:0000505) Visual impairment 11527955 IBIS 297 / 7739
4
 (HPO:0007843) Attenuation of retinal blood vessels 11527955 IBIS 25 / 7739
5
 (HPO:0007737) Bone spicule pigmentation of the retina 11527955 IBIS 26 / 7739
6
 (HPO:0000648) Optic atrophy 11527955 IBIS 238 / 7739
7
 (HPO:0000533) Chorioretinal atrophy 11527955 IBIS 24 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wada et al. (2001) studied 4 Japanese families segregating autosomal dominant retinitis pigmentosa (adRP). All 14 affected patients had had night blindness from childhood. Their visual acuity ranged from hand motion to 1.0. Fundus examination of affected members ...
Molecular genetics OMIM Wada et al. (2001) performed mutation screening by SSCP in unrelated Japanese families with RP, including 120 patients with adRP, 200 patients with arRP, and 100 patients with simplex RP. In all 14 affected members from 4 adRP ...