RETINITIS PIGMENTOSA 18

General Information (adopted from Orphanet):

Synonyms, Signs: RP18
Number of Symptoms 8
OrphanetNr:
OMIM Id: 601414
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:0000575) Scotoma 11 / 7739
2
(HPO:0007987) Progressive visual field defects 1 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0008043) Retinal arteriolar constriction 5 / 7739
5
(HPO:0000510) Rod-cone dystrophy 266 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Mid-peripheral ring scotomas 1 / 7739
8
(OMIM) Peripheral fundus bone spicule formation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Xu et al. (1996) studied a large Danish family of 7 generations in which autosomal dominant retinitis pigmentosa segregated. Clinical diagnosis was based on a history of night blindness and ocular fundus findings typical of retinitis pigmentosa and ...
Molecular genetics OMIM Chakarova et al. (2002) screened the PRPF3 gene, which they called HPRP3, in 3 chromosome 1q-linked RP families. Two different missense mutations in 2 English families, a Danish family, and in 3 RP individuals were identified. One of ...