MCID: RTN035
MIFTS: 27

Retinal Cone Dystrophy 3b

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinal Cone Dystrophy 3b

MalaCards integrated aliases for Retinal Cone Dystrophy 3b:

Name: Retinal Cone Dystrophy 3b 57 53 29 13 6 73
Rcd3b 57 53 75
Cone Dystrophy with Supernormal Rod Electroretinogram 59 75
Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Kcnv2-Related 57
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Kcnv2 Related 53
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Kcnv2-Related 75
Cone Dystrophy with Supernormal Scotopic Electroretinogram 59
Cone Dystrophy with Supernormal Rod Responses; Cdsrr 57
Cone Dystrophy with Supernormal Rod Responses 57
Cone Dystrophy with Supernormal Rod Response 59
Cone Dystrophy with Supernormal Rod Erg 59
Dystrophy, Retinal Cone, Type 3b 40
Cone Dystrophy Retinal 3b 75
Cdsrr 57

Characteristics:

Orphanet epidemiological data:

59
cone dystrophy with supernormal rod response
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first or second decades of life
nyctalopia is a later feature of the disorder


HPO:

32
retinal cone dystrophy 3b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Retinal Cone Dystrophy 3b

OMIM : 57 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 scotomata with peripheral widespread sensitivity loss predominating in the superior visual field. Nyctalopia is a later feature of the disorder. There is often retinal pigment epithelium disturbance at the macula with a normal retinal periphery. Autofluorescence (AF) imaging shows either a perifoveal ring or a central macular area of relative increased AF (summary by Michaelides et al., 2005). (610356)

MalaCards based summary : Retinal Cone Dystrophy 3b, also known as rcd3b, is related to retinal cone dystrophy 3a and cone dystrophy, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 3b is KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2). Affiliated tissues include retina, testes and eye, and related phenotypes are photophobia and strabismus

UniProtKB/Swiss-Prot : 75 Cone dystrophy retinal 3B: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.

Related Diseases for Retinal Cone Dystrophy 3b

Diseases related to Retinal Cone Dystrophy 3b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 3a 11.9
2 cone dystrophy 10.5

Symptoms & Phenotypes for Retinal Cone Dystrophy 3b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
nyctalopia
strabismus (in some patients)
myopia, moderate to high
reduced central vision, progressive
more

Clinical features from OMIM:

610356

Human phenotypes related to Retinal Cone Dystrophy 3b:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 strabismus 32 occasional (7.5%) HP:0000486
3 myopia 32 HP:0000545
4 nyctalopia 32 HP:0000662
5 horizontal nystagmus 32 HP:0000666
6 astigmatism 32 HP:0000483
7 cone/cone-rod dystrophy 32 HP:0000548
8 scotoma 32 HP:0000575
9 macular atrophy 32 occasional (7.5%) HP:0007401

UMLS symptoms related to Retinal Cone Dystrophy 3b:


photophobia

Drugs & Therapeutics for Retinal Cone Dystrophy 3b

Search Clinical Trials , NIH Clinical Center for Retinal Cone Dystrophy 3b

Genetic Tests for Retinal Cone Dystrophy 3b

Genetic tests related to Retinal Cone Dystrophy 3b:

# Genetic test Affiliating Genes
1 Retinal Cone Dystrophy 3b 29 KCNV2

Anatomical Context for Retinal Cone Dystrophy 3b

MalaCards organs/tissues related to Retinal Cone Dystrophy 3b:

41
Retina, Testes, Eye

Publications for Retinal Cone Dystrophy 3b

Articles related to Retinal Cone Dystrophy 3b:

# Title Authors Year
1
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. ( 23143909 )
2013
2
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. ( 23115240 )
2012
3
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. ( 18400204 )
2008
4
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. ( 16909397 )
2006

Variations for Retinal Cone Dystrophy 3b

UniProtKB/Swiss-Prot genetic disease variations for Retinal Cone Dystrophy 3b:

75
# Symbol AA change Variation ID SNP ID
1 KCNV2 p.Leu126Gln VAR_027632 rs776275880
2 KCNV2 p.Trp188Cys VAR_027633 rs772921412
3 KCNV2 p.Ser256Trp VAR_027634 rs104894116
4 KCNV2 p.Ala259Val VAR_027635
5 KCNV2 p.Gly459Asp VAR_027637 rs104894115

ClinVar genetic disease variations for Retinal Cone Dystrophy 3b:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNV2 NM_133497.3(KCNV2): c.427G> T (p.Glu143Ter) single nucleotide variant Pathogenic rs104894113 GRCh37 Chromosome 9, 2718166: 2718166
2 KCNV2 NM_133497.3(KCNV2): c.427G> T (p.Glu143Ter) single nucleotide variant Pathogenic rs104894113 GRCh38 Chromosome 9, 2718166: 2718166
3 KCNV2 NM_133497.3(KCNV2): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs104894114 GRCh37 Chromosome 9, 2718655: 2718655
4 KCNV2 NM_133497.3(KCNV2): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs104894114 GRCh38 Chromosome 9, 2718655: 2718655
5 KCNV2 NM_133497.3(KCNV2): c.1376G> A (p.Gly459Asp) single nucleotide variant Pathogenic rs104894115 GRCh37 Chromosome 9, 2729465: 2729465
6 KCNV2 NM_133497.3(KCNV2): c.1376G> A (p.Gly459Asp) single nucleotide variant Pathogenic rs104894115 GRCh38 Chromosome 9, 2729465: 2729465
7 KCNV2 NM_133497.3(KCNV2): c.1016_1024delACCTGGTGG (p.Asp339_Val341del) deletion Pathogenic rs786205064 GRCh37 Chromosome 9, 2718755: 2718763
8 KCNV2 NM_133497.3(KCNV2): c.1016_1024delACCTGGTGG (p.Asp339_Val341del) deletion Pathogenic rs786205064 GRCh38 Chromosome 9, 2718755: 2718763
9 KCNV2 NM_133497.3(KCNV2): c.767C> G (p.Ser256Trp) single nucleotide variant Pathogenic rs104894116 GRCh37 Chromosome 9, 2718506: 2718506
10 KCNV2 NM_133497.3(KCNV2): c.767C> G (p.Ser256Trp) single nucleotide variant Pathogenic rs104894116 GRCh38 Chromosome 9, 2718506: 2718506
11 KCNV2 KCNV2, GLY461ARG undetermined variant Pathogenic
12 KCNV2 KCNV2, 1-BP INS, 357C insertion Pathogenic
13 KCNV2 NM_133497.3(KCNV2): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic rs387907302 GRCh37 Chromosome 9, 2717965: 2717965
14 KCNV2 NM_133497.3(KCNV2): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic rs387907302 GRCh38 Chromosome 9, 2717965: 2717965
15 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh37 Chromosome 9, 2717747: 2717750
16 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh38 Chromosome 9, 2717747: 2717750
17 KCNV2 NM_133497.3(KCNV2): c.442G> T (p.Glu148Ter) single nucleotide variant Pathogenic rs140256288 GRCh37 Chromosome 9, 2718181: 2718181
18 KCNV2 NM_133497.3(KCNV2): c.442G> T (p.Glu148Ter) single nucleotide variant Pathogenic rs140256288 GRCh38 Chromosome 9, 2718181: 2718181
19 KCNV2 NM_133497.3(KCNV2): c.491T> C (p.Phe164Ser) single nucleotide variant Pathogenic rs397514604 GRCh37 Chromosome 9, 2718230: 2718230
20 KCNV2 NM_133497.3(KCNV2): c.491T> C (p.Phe164Ser) single nucleotide variant Pathogenic rs397514604 GRCh38 Chromosome 9, 2718230: 2718230
21 KCNV2 NG_012181.1: g.5233_16321delinsCATTTG indel Pathogenic

Expression for Retinal Cone Dystrophy 3b

Search GEO for disease gene expression data for Retinal Cone Dystrophy 3b.

Pathways for Retinal Cone Dystrophy 3b

GO Terms for Retinal Cone Dystrophy 3b

Sources for Retinal Cone Dystrophy 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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