RETINITIS PIGMENTOSA 43

General Information (adopted from Orphanet):

Synonyms, Signs: RP43
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613810
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:0000580) Pigmentary retinopathy 49 / 7739
2
(HPO:0007994) Peripheral visual field loss 13 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000510) Rod-cone dystrophy 266 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0000543) Optic disc pallor 67 / 7739
7
(HPO:0000512) Abnormal electroretinogram 61 / 7739
8
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Huang et al. (1995) studied 2 unrelated families segregating autosomal recessive retinitis pigmentosa (RP). Affected individuals reported night blindness since early childhood. Visual field testing revealed marked peripheral field loss. Fundus examination showed abnormalities typical of RP including ...
Molecular genetics OMIM Because null mutations in the beta subunit of cGMP phosphodiesterase (PDE6B; 180072) cause some cases of retinitis pigmentosa (RP40; 613801), and since both alpha and beta subunits are required for full phosphodiesterase activity, Huang et al. (1995) examined ...