CONE-ROD DYSTROPHY 18

General Information (adopted from Orphanet):

Synonyms, Signs: CORD18
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615374
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:0000603) Central scotoma 18 / 7739
2
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
3
(HPO:0011003) Severe Myopia 31 / 7739
4
(HPO:0008001) Foveal hyperpigmentation 2 / 7739
5
(OMIM) Lack of photoreceptors in fovea by optical coherence tomography 1 / 7739
6
(OMIM) Defects in all axes of color vision 1 / 7739
7
(OMIM) Foveal atrophy (in some patients) 1 / 7739
8
(OMIM) Decreased visual acuity, rapidly progressive 1 / 7739
9
(OMIM) Reduced scotopic responses on electroretinography 1 / 7739
10
(OMIM) Nondetectable photopic responses on electroretinography 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Foveal hyperfluorescence 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Roosing et al. (2013) studied a German family in which 3 sibs were diagnosed with cone-rod dystrophy in the second decade of life, with rapidly deteriorating visual acuities and high myopia. Funduscopy showed hyperpigmentation of the fovea, and ...
Molecular genetics OMIM In 2 of 3 affected sibs from a German family with CORD, Roosing et al. (2013) performed exome sequencing but found no pathogenic variants in known autosomal recessive CORD-associated genes among the shared variants; there was only a ...