CONE-ROD DYSTROPHY 15

General Information (adopted from Orphanet):

Synonyms, Signs: RP65, INCLUDED
CORD15 RETINITIS PIGMENTOSA 65, INCLUDED
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613660
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:0000648) Optic atrophy 238 / 7739
2
(HPO:0000613) Photophobia rare [HPO:skoehler] 158 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000662) Nyctalopia rare [HPO:skoehler] 92 / 7739
5
(HPO:0000551) Abnormality of color vision 20 / 7739
6
(HPO:0000529) Progressive visual loss 54 / 7739
7
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
8
(OMIM) Rod and cone responses reduced or nondetectable on electroretinography 1 / 7739
9
(OMIM) Pigment abnormalities, both central and peripheral 1 / 7739
10
(OMIM) Irregular pigmentation of fovea with atrophy of RPE (in some patients) 1 / 7739
11
(OMIM) Horizontal oval-shaped fovea (in some patients) 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Moth-eaten appearance of fovea (in some patients) 1 / 7739
14
(OMIM) Retinal vessel attenuation 2 / 7739
15
(OMIM) Circular patches of pigment epithelial atrophy at the macula and in peripheral retina (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM - Cone-Rod Dystrophy 15

Ostergaard et al. (2010) studied 6 affected members of a 3-generation consanguineous pedigree from the Faroe Islands segregating autosomal recessive cone-rod dystrophy. The 3 oldest affected sibs reported decreased vision from around ...

Molecular genetics OMIM In a 3-generation consanguineous Faroese pedigree segregating autosomal recessive cone-rod dystrophy mapping to 10q23.1-q23.2, Ostergaard et al. (2010) analyzed 3 candidate genes and identified homozygosity for a 1-bp insertion in the PCDH21 gene (CDHR1; 609502.0001) in all affected ...