Cone dystrophy with supernormal rod response

General Information (adopted from Orphanet):

Synonyms, Signs: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES
CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED
RCD3B
CDSRR
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod electroretinogram
Cone dystrophy with supernormal scotopic electroretinogram
Number of Symptoms 19
OrphanetNr: 209932
OMIM Id: 610356
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 45 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000483) Astigmatism 67 / 7739
2
(HPO:0000662) Nyctalopia 92 / 7739
3
(HPO:0000575) Scotoma 11 / 7739
4
(HPO:0000613) Photophobia 158 / 7739
5
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
6
(HPO:0000545) Myopia 286 / 7739
7
(HPO:0000666) Horizontal nystagmus 32 / 7739
8
(OMIM) Supernormal and delayed rod responses on electroretinography 1 / 7739
9
(OMIM) Peripheral sensitivity loss, widespread, on photopic and dark-adapted perimetry testing 1 / 7739
10
(OMIM) Macular atrophy, mild (in some patients) 1 / 7739
11
(OMIM) Astigmatism, variable 1 / 7739
12
(OMIM) Reduced and delayed cone responses on electroretinography 1 / 7739
13
(OMIM) Central scotomata on photopic and dark-adapted perimetry testing 1 / 7739
14
(OMIM) Myopia, moderate to high 1 / 7739
15
(OMIM) Macular dysfunction, marked, on electroretinography 1 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Nystagmus, horizontal, mild 2 / 7739
18
(OMIM) Reduced red-green color vision, progressive 1 / 7739
19
(OMIM) Reduced central vision, progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cone dystrophy with supernormal rod responses (CDSRR) is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central ...
Clinical Description OMIM Michaelides et al. (2005) examined 10 patients with retinal cone dystrophy and supernormal rod responses from 7 families of varied ethnic origins, including Britain, Somalia, Pakistan, Iran, and the United Arab Emirates. Patients presented in the first or ...
Molecular genetics OMIM Wu et al. (2006) analyzed the KCNV2 gene, which mapped within the chromosome 9p24 region they had identified for retinal dystrophy in a consanguineous Middle Eastern family, and identified a homozygous nonsense mutation (607604.0001). Mutations were also found ...