RETINITIS PIGMENTOSA 46

General Information (adopted from Orphanet):

Synonyms, Signs: RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED
RP46
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612572
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:0007843) Attenuation of retinal blood vessels 25 / 7739
2
(HPO:0000543) Optic disc pallor 67 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
6
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hartong et al. (2008) provided results of an ophthalmologic examination of 2 individuals with autosomal recessive IDH3B-related retinitis pigmentosa. The index case and the other individual, identified in a screen of patients with recessive or simplex retinitis pigmentosa, ...
Molecular genetics OMIM In an individual with retinitis pigmentosa and in her affected brother, Hartong et al. (2008) found homozygosity for a 1-basepair deletion in codon 197 of the IDH3B gene (604526.0001). The parents of the affected individual were first cousins; ...