RETINITIS PIGMENTOSA 61

General Information (adopted from Orphanet):

Synonyms, Signs: RP61
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614180
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:0007688) Undetectable light- and dark-adapted electroretinogram 21310491 IBIS 9 / 7739
2
 (HPO:0007737) Bone spicule pigmentation of the retina 21310491 IBIS 26 / 7739
3
 (HPO:0000505) Visual impairment 21310491 IBIS 297 / 7739
4
 (HPO:0000662) Nyctalopia 21310491 IBIS 92 / 7739
5
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
6
 (HPO:0007843) Attenuation of retinal blood vessels 21310491 IBIS 25 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Khan et al. (2011) described 2 consanguineous Pakistani families segregating autosomal recessive retinitis pigmentosa. Analysis of the fundus of affected individuals of both families indicated attenuation of the retinal vessels, waxy appearance of the optic disc, and bone ...
Molecular genetics OMIM In affected members of 2 consanguineous Pakistani families segregating retinitis pigmentosa, Khan et al. (2011) identified homozygous missense mutations in the CLRN1 gene (606397.0009-606397.0010). The mutations were not found in 81 unrelated Pakistani RP patients or in 90 ...