RETINITIS PIGMENTOSA 59

General Information (adopted from Orphanet):

Synonyms, Signs: RP59
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613861
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0011505) Cystoid macular edema rare [HPO:skoehler] 8 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Bone spicule-like pigmentation 2 / 7739
5
(OMIM) Central islands of vision only (late) 1 / 7739
6
(OMIM) Impaired night vision 1 / 7739
7
(OMIM) Waxy-appearing optic nerve head 1 / 7739
8
(OMIM) Reduced peripheral vision 2 / 7739
9
(OMIM) Electroretinography responses nondetectable (in most patients) 1 / 7739
10
(OMIM) Visual acuity ranges from 20/20 to light perception only 1 / 7739
11
(OMIM) Attenuated retinal blood vessels 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zuchner et al. (2011) studied an Ashkenazi Jewish family in which 3 of 4 sibs were diagnosed with retinitis pigmentosa (RP) in their teenage years. Early symptoms consisted of impaired night and peripheral vision. Clinical examination of the ...
Molecular genetics OMIM In an Ashkenazi Jewish family in which 3 of 4 sibs had RP, Zuchner et al. (2011) screened all known RP genes but found no mutations. Whole-exome sequencing identified a single variant in the DHDDS gene (K42E; 608172.0001) ...