RETINITIS PIGMENTOSA 60

General Information (adopted from Orphanet):

Synonyms, Signs: RP60
Number of Symptoms 10
OrphanetNr:
OMIM Id: 613983
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:0000505) Visual impairment 297 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(OMIM) Reduced peripheral vision 2 / 7739
5
(OMIM) Waxy pallor of optic discs 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Bone spicule pigment in periphery 1 / 7739
8
(OMIM) Attenuation of retinal vessels 5 / 7739
9
(OMIM) Reduced night vision 1 / 7739
10
(OMIM) Atrophy of retinal pigment epithelium 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tanackovic et al. (2011) described the proband from a 4-generation family of European descent segregating autosomal dominant retinitis pigmentosa, who presented at 37 years of age for evaluation of decreased night vision and loss of peripheral vision. Funduscopy ...
Molecular genetics OMIM In 188 probands from families segregating autosomal dominant retinitis pigmentosa, Tanackovic et al. (2011) screened the candidate gene PRPF6 and identified a heterozygous missense mutation in 1 proband (613979.0001). The mutation was also detected in heterozygosity in his ...