RETINITIS PIGMENTOSA 17

General Information (adopted from Orphanet):

Synonyms, Signs: RP17
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600852
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:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yang et al. (2005) reported 13 affected individuals in a large Caucasian family with RP17. Reduction in night and peripheral vision manifested at around age 15, followed by rod photoreceptor atrophy, bone spicule pigmentation, and concomitant cone photoreceptor ...
Molecular genetics OMIM In affected members of 2 previously reported South African families with RP17 (Bardien et al., 1995; Bardien et al., 1997), Rebello et al. (2004) identified an R14W mutation (114760.0001) in the CA4 gene. The mutation was found to ...