RETINITIS PIGMENTOSA 40

General Information (adopted from Orphanet):

Synonyms, Signs: RP40
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613801
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:0008323) Abnormal light- and dark-adapted electroretinogram 5 / 7739
3
(OMIM) Attenuated retinal vessels 4 / 7739
4
(OMIM) Intraretinal bone-spicule pigment 1 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Absent night vision 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McLaughlin et al. (1993) identified 6 patients from 3 families with autosomal recessive retinitis pigmentosa (RP) and mutations in the PDE6B gene. All affected individuals had clinical findings typical of RP. They reported absent night vision from early ...
Molecular genetics OMIM McLaughlin et al. (1993) detected 4 mutations in the PDE6B gene (e.g., 180072.0001) in 3 families with autosomal recessive RP.

Bayes et al. (1995) found homozygosity for a 71-bp duplication in exon 1 of the PDE6B ...