RETINITIS PIGMENTOSA 58

General Information (adopted from Orphanet):

Synonyms, Signs: RP58
Number of Symptoms 8
OrphanetNr:
OMIM Id: 613617
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:0000662) Nyctalopia 92 / 7739
2
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
3
(HPO:0001141) Severe visual impairment 11 / 7739
4
(HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
5
(HPO:0000543) Optic disc pallor 67 / 7739
6
(HPO:0008323) Abnormal light- and dark-adapted electroretinogram 5 / 7739
7
(HPO:0000510) Rod-cone dystrophy 266 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Naz et al. (2010) studied a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light ...
Molecular genetics OMIM In a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP) mapping to chromosome 2p24.1-p22.3, Naz et al. (2010) sequenced 3 candidate genes but did not find any pathogenic mutations.

In the Pakistani RP family previously ...