RETINITIS PIGMENTOSA 20

General Information (adopted from Orphanet):

Synonyms, Signs: RP20
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613794
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000505) Visual impairment 297 / 7739
2
(HPO:0000662) Nyctalopia 92 / 7739
3
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

RPE65;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gu et al. (1997) described a 5-generation consanguineous Indian family with 4 members with childhood-onset severe retinal dystrophy (RP20). Onset of severe visual impairment was between 3 and 7 years of age. Night blindness was a typical and early ...
Molecular genetics OMIM Gu et al. (1997) identified 5 families with autosomal recessive childhood-onset severe retinal dystrophy and mutations in the RPE65 gene. Five presumed pathogenic RPE65 mutations (e.g., 180069.0003) were found on a total of 9 alleles in 5 probands. Gu ...