RETINITIS PIGMENTOSA 57

General Information (adopted from Orphanet):

Synonyms, Signs: RP57
Number of Symptoms 10
OrphanetNr:
OMIM Id: 613582
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:0000510) Rod-cone dystrophy 266 / 7739
2
(HPO:0000543) Optic disc pallor 67 / 7739
3
(HPO:0011505) Cystoid macular edema 8 / 7739
4
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
5
(OMIM) Severe, early-onset eye disease 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Lack of foveal reflex 1 / 7739
8
(OMIM) Markedly constricted visual fields 1 / 7739
9
(OMIM) Electroretinograms markedly reduced or completely extinct 1 / 7739
10
(OMIM) Bone spicule pigment deposits in periphery and mid periphery 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dvir et al. (2010) studied an extended Israeli Muslim Arab pedigree segregating severe early-onset autosomal recessive retinitis pigmentosa in which affected individuals had markedly constricted visual fields, ranging from 10% to less than 5%, with tiny residual islands ...
Molecular genetics OMIM In an extended Israeli Muslim Arab pedigree segregating autosomal recessive RP mapping to chromosome 17q25.3, Dvir et al. (2010) sequenced the candidate PDE6G gene and identified homozygosity for a splice site mutation in affected individuals (180073.0001); all unaffected ...