RETINITIS PIGMENTOSA 66

General Information (adopted from Orphanet):

Synonyms, Signs: RP66
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615233
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:0001133) Constriction of peripheral visual field 33 / 7739
2
 (HPO:0000603) Central scotoma 18 / 7739
3
 (HPO:0000543) Optic disc pallor rare [HPO:skoehler] 67 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0000662) Nyctalopia 92 / 7739
6
 (HPO:0007663) Reduced visual acuity 100 / 7739
7
 (HPO:0007787) Posterior subcapsular cataract 20 / 7739
8
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
9
 (OMIM) Cone implicit times consistent with progressive disease 1 / 7739
10
 (OMIM) Severe loss of rod and cone function on electroretinography 1 / 7739
11
 (OMIM) Attenuated retinal vessels 4 / 7739
12
 (OMIM) Tritan color vision deficits (in some patients) 1 / 7739
13
 (OMIM) Bone-spicule pigment clumping 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Den Hollander et al. (2009) studied a consanguineous Italian family in which 3 brothers and a sister had retinitis pigmentosa; 2 of the brothers underwent detailed clinical evaluation, which demonstrated a wide range of severity in this family. ...
Molecular genetics OMIM In a consanguineous Italian family with retinitis pigmentosa mapping to chromosome 10, den Hollander et al. (2009) analyzed 3 candidate genes and identified a missense mutation in the RBP3 gene (D1080N; 180290.0001) that segregated with disease and was ...