CONE-ROD DYSTROPHY 2

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL CONE-ROD DYSTROPHY
CONE-ROD RETINAL DYSTROPHY
CONE-ROD DYSTROPHY
RCRD2
CRD
CRD2
CORD2
CORD
Number of Symptoms 7
OrphanetNr:
OMIM Id: 120970
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:0000662) Nyctalopia 92 / 7739
2
(HPO:0000533) Chorioretinal atrophy 24 / 7739
3
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
4
(HPO:0007994) Peripheral visual field loss 13 / 7739
5
(OMIM) Initial color vision and visual acuity loss 1 / 7739
6
(OMIM) Early blindness 6 / 7739
7
(OMIM) Widespread retinal pigmentation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms ...
Clinical Description OMIM Hittner et al. (1975) described an extensively affected kindred with an autosomal dominant dystrophy of the retinal photoreceptors and pigment epithelium that is characterized by simultaneous abiotrophic degeneration of rods and cones. The onset of decreased central vision ...
Molecular genetics OMIM In affected members of 2 pedigrees with CORD2, Freund et al. (1997) identified a missense and a frameshift mutation in the CRX gene, an OTX-like homeobox gene. The authors showed that the missense mutation (602225.0001) was not a ...