RCD3B
MCID: RTN035
MIFTS: 32

Retinal Cone Dystrophy 3b (RCD3B)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 3b

MalaCards integrated aliases for Retinal Cone Dystrophy 3b:

Name: Retinal Cone Dystrophy 3b 57 20 13 70
Cone Dystrophy with Supernormal Rod Electroretinogram 58 72 6
Cone Dystrophy with Supernormal Rod Response 58 29 6
Rcd3b 57 20 72
Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Kcnv2-Related 57
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Kcnv2 Related 20
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Kcnv2-Related 72
Cone Dystrophy with Supernormal Scotopic Electroretinogram 58
Cone Dystrophy with Supernormal Rod Responses; Cdsrr 57
Cone Dystrophy with Supernormal Rod Responses 57
Cone Dystrophy with Supernormal Rod Erg 58
Dystrophy, Retinal Cone, Type 3b 39
Cone Dystrophy Retinal 3b 72
Cdsrr 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
retinal cone dystrophy 3b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 610356
MeSH 44 D058499
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA209932
MedGen 41 C1835897
UMLS 70 C1835897

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) (Updated 05-Apr-2021)

MalaCards based summary : Retinal Cone Dystrophy 3b, also known as cone dystrophy with supernormal rod electroretinogram, 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 eye and retina, and related phenotypes are strabismus and macular atrophy

UniProtKB/Swiss-Prot : 72 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 in the Retinal Cone Dystrophy 3a family:

Retinal Cone Dystrophy 1 Retinal Cone Dystrophy 3b
Retinal Cone Dystrophy 4

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 3a 11.6
2 cone dystrophy 10.5
3 retinitis pigmentosa 10.4
4 microphthalmia, isolated 5 10.4
5 autosomal recessive disease 10.4
6 optic disk drusen 10.4
7 retinal degeneration 10.4
8 refractive error 10.4
9 cone-rod dystrophy 2 10.4
10 night blindness 10.4
11 ifap syndrome 2 10.3
12 fundus dystrophy 10.3

Graphical network of the top 20 diseases related to Retinal Cone Dystrophy 3b:



Diseases related to Retinal Cone Dystrophy 3b

Symptoms & Phenotypes for Retinal Cone Dystrophy 3b

Human phenotypes related to Retinal Cone Dystrophy 3b:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 strabismus 31 occasional (7.5%) HP:0000486
2 macular atrophy 31 occasional (7.5%) HP:0007401
3 photophobia 31 HP:0000613
4 myopia 31 HP:0000545
5 nyctalopia 31 HP:0000662
6 scotoma 31 HP:0000575
7 astigmatism 31 HP:0000483
8 cone/cone-rod dystrophy 31 HP:0000548
9 horizontal nystagmus 31 HP:0000666

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
nyctalopia
strabismus (in some patients)
myopia, moderate to high
reduced central vision, progressive
more

Clinical features from OMIM®:

610356 (Updated 05-Apr-2021)

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 Cone Dystrophy with Supernormal Rod Response 29

Anatomical Context for Retinal Cone Dystrophy 3b

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

40
Eye, Retina

Publications for Retinal Cone Dystrophy 3b

Articles related to Retinal Cone Dystrophy 3b:

(show all 17)
# Title Authors PMID Year
1
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 61 6 57
21882291 2011
2
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. 61 6 57
18235024 2008
3
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. 6 57
16909397 2006
4
Retinal cone dysfunction of supernormal rod ERG type. Five new cases. 57 6
8333273 1993
5
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
6
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". 57
23221069 2013
7
Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. 6
23885164 2013
8
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. 6
23115240 2012
9
Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. 6
21911584 2011
10
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". 57
15722315 2005
11
Long-term follow-up of a Chinese patient with KCNV2-retinopathy. 61
33372566 2021
12
Analysis of retinal structure and function in cone dystrophy with supernormal rod response. 61
31960170 2020
13
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers. 61
31651202 2019
14
RETINA-specific expression of Kcnv2 is controlled by cone-rod homeobox (Crx) and neural retina leucine zipper (Nrl). 61
24664678 2014
15
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. 61
23725738 2013
16
Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response. 61
24029832 2013
17
The retinal clock drives the expression of Kcnv2, a channel essential for visual function and cone survival. 61
22969075 2012

Variations for Retinal Cone Dystrophy 3b

ClinVar genetic disease variations for Retinal Cone Dystrophy 3b:

6 (show top 50) (show all 114)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNV2 NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys) SNV Pathogenic 812343 rs754275640 GRCh37: 9:2718697-2718697
GRCh38: 9:2718697-2718697
2 KCNV2 NM_133497.4(KCNV2):c.991_992GC[4] (p.Ser333fs) Microsatellite Pathogenic 812344 rs986350598 GRCh37: 9:2718728-2718729
GRCh38: 9:2718728-2718729
3 KCNV2 NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter) SNV Pathogenic 3011 rs104894114 GRCh37: 9:2718655-2718655
GRCh38: 9:2718655-2718655
4 KCNV2 NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp) SNV Pathogenic 3012 rs104894115 GRCh37: 9:2729465-2729465
GRCh38: 9:2729465-2729465
5 KCNV2 NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp) SNV Pathogenic 3014 rs104894116 GRCh37: 9:2718506-2718506
GRCh38: 9:2718506-2718506
6 KCNV2 NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter) SNV Pathogenic 37249 rs387907302 GRCh37: 9:2717965-2717965
GRCh38: 9:2717965-2717965
7 KCNV2 NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter) SNV Pathogenic 39811 rs140256288 GRCh37: 9:2718181-2718181
GRCh38: 9:2718181-2718181
8 KCNV2 NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser) SNV Pathogenic 39812 rs397514604 GRCh37: 9:2718230-2718230
GRCh38: 9:2718230-2718230
9 KCNV2 NG_012181.1:g.5233_16321delinsCATTTG Indel Pathogenic 39813 GRCh37:
GRCh38:
10 KCNV2 NM_133497.4(KCNV2):c.411_414del (p.Leu138fs) Deletion Pathogenic 812338 rs1586686845 GRCh37: 9:2718149-2718152
GRCh38: 9:2718149-2718152
11 KCNV2 NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del) Deletion Pathogenic 812340 rs1586687216 GRCh37: 9:2718462-2718467
GRCh38: 9:2718462-2718467
12 KCNV2 NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp) SNV Pathogenic 812342 rs755071813 GRCh37: 9:2718521-2718521
GRCh38: 9:2718521-2718521
13 KCNV2 NM_133497.4:c.1357_1638del Deletion Pathogenic 978435 GRCh37:
GRCh38:
14 KCNV2 NM_133497.4(KCNV2):c.64G>T (p.Glu22Ter) SNV Pathogenic 997599 GRCh37: 9:2717803-2717803
GRCh38: 9:2717803-2717803
15 KCNV2 NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) Deletion Pathogenic 39810 rs786205121 GRCh37: 9:2717745-2717748
GRCh38: 9:2717745-2717748
16 KCNV2 NM_133497.4(KCNV2):c.357dup (p.Lys120fs) Duplication Pathogenic 636178 rs1402837406 GRCh37: 9:2718092-2718093
GRCh38: 9:2718092-2718093
17 KCNV2 NM_133497.4(KCNV2):c.1007_1015ACCTGGTGG[1] (p.Asp339_Val341del) Microsatellite Pathogenic 3013 rs786205064 GRCh37: 9:2718746-2718754
GRCh38: 9:2718746-2718754
18 KCNV2 NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) SNV Pathogenic/Likely pathogenic 37247 rs149648640 GRCh37: 9:2729470-2729470
GRCh38: 9:2729470-2729470
19 KCNV2 NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) SNV Pathogenic/Likely pathogenic 3010 rs104894113 GRCh37: 9:2718166-2718166
GRCh38: 9:2718166-2718166
20 KCNV2 NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter) SNV Likely pathogenic 1027360 GRCh37: 9:2717892-2717892
GRCh38: 9:2717892-2717892
21 KCNV2 NM_133497.4(KCNV2):c.1096del (p.Val366fs) Deletion Likely pathogenic 1048137 GRCh37: 9:2718834-2718834
GRCh38: 9:2718834-2718834
22 KCNV2 NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg) SNV Likely pathogenic 812345 rs1586692857 GRCh37: 9:2729530-2729530
GRCh38: 9:2729530-2729530
23 KCNV2 NM_133497.4(KCNV2):c.758del (p.Pro253fs) Deletion Likely pathogenic 812341 rs1586687247 GRCh37: 9:2718496-2718496
GRCh38: 9:2718496-2718496
24 KCNV2 NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly) SNV Likely pathogenic 812339 rs1586686896 GRCh37: 9:2718194-2718194
GRCh38: 9:2718194-2718194
25 KCNV2 NM_133497.4(KCNV2):c.80G>A (p.Arg27His) SNV Conflicting interpretations of pathogenicity 143162 rs145731729 GRCh37: 9:2717819-2717819
GRCh38: 9:2717819-2717819
26 KCNV2 NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) SNV Uncertain significance 632039 rs778977288 GRCh37: 9:2719086-2719086
GRCh38: 9:2719086-2719086
27 KCNV2 NM_133497.4(KCNV2):c.-9T>C SNV Uncertain significance 912683 GRCh37: 9:2717731-2717731
GRCh38: 9:2717731-2717731
28 KCNV2 NM_133497.4(KCNV2):c.20G>T (p.Arg7Met) SNV Uncertain significance 912684 GRCh37: 9:2717759-2717759
GRCh38: 9:2717759-2717759
29 KCNV2 NM_133497.4(KCNV2):c.507G>A (p.Val169=) SNV Uncertain significance 912726 GRCh37: 9:2718246-2718246
GRCh38: 9:2718246-2718246
30 KCNV2 NM_133497.4(KCNV2):c.576C>G (p.Leu192=) SNV Uncertain significance 912727 GRCh37: 9:2718315-2718315
GRCh38: 9:2718315-2718315
31 KCNV2 NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln) SNV Uncertain significance 912729 GRCh37: 9:2718356-2718356
GRCh38: 9:2718356-2718356
32 KCNV2 NM_133497.4(KCNV2):c.617G>T (p.Arg206Leu) SNV Uncertain significance 912730 GRCh37: 9:2718356-2718356
GRCh38: 9:2718356-2718356
33 KCNV2 NM_133497.4(KCNV2):c.1040A>T (p.Tyr347Phe) SNV Uncertain significance 912777 GRCh37: 9:2718779-2718779
GRCh38: 9:2718779-2718779
34 KCNV2 NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg) SNV Uncertain significance 913139 GRCh37: 9:2719087-2719087
GRCh38: 9:2719087-2719087
35 KCNV2 NM_133497.4(KCNV2):c.103G>A (p.Ala35Thr) SNV Uncertain significance 913791 GRCh37: 9:2717842-2717842
GRCh38: 9:2717842-2717842
36 KCNV2 NM_133497.4(KCNV2):c.161A>C (p.Tyr54Ser) SNV Uncertain significance 913792 GRCh37: 9:2717900-2717900
GRCh38: 9:2717900-2717900
37 KCNV2 NM_133497.4(KCNV2):c.180C>T (p.Asp60=) SNV Uncertain significance 913793 GRCh37: 9:2717919-2717919
GRCh38: 9:2717919-2717919
38 KCNV2 NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg) SNV Uncertain significance 914187 GRCh37: 9:2717938-2717938
GRCh38: 9:2717938-2717938
39 KCNV2 NM_133497.4(KCNV2):c.217G>C (p.Glu73Gln) SNV Uncertain significance 914188 GRCh37: 9:2717956-2717956
GRCh38: 9:2717956-2717956
40 KCNV2 NM_133497.4(KCNV2):c.253A>G (p.Lys85Glu) SNV Uncertain significance 914189 GRCh37: 9:2717992-2717992
GRCh38: 9:2717992-2717992
41 KCNV2 NM_133497.4(KCNV2):c.258C>G (p.Pro86=) SNV Uncertain significance 914190 GRCh37: 9:2717997-2717997
GRCh38: 9:2717997-2717997
42 KCNV2 NM_133497.4(KCNV2):c.796T>G (p.Ser266Ala) SNV Uncertain significance 914240 GRCh37: 9:2718535-2718535
GRCh38: 9:2718535-2718535
43 KCNV2 NM_133497.4(KCNV2):c.671C>T (p.Ala224Val) SNV Uncertain significance 913088 GRCh37: 9:2718410-2718410
GRCh38: 9:2718410-2718410
44 KCNV2 NM_133497.4(KCNV2):c.707T>G (p.Met236Arg) SNV Uncertain significance 913089 GRCh37: 9:2718446-2718446
GRCh38: 9:2718446-2718446
45 KCNV2 NM_133497.4(KCNV2):c.1258A>G (p.Met420Val) SNV Uncertain significance 913136 GRCh37: 9:2718997-2718997
GRCh38: 9:2718997-2718997
46 KCNV2 NM_133497.4(KCNV2):c.1049_1052dup (p.Leu352fs) Duplication Uncertain significance 366418 rs886063821 GRCh37: 9:2718787-2718788
GRCh38: 9:2718787-2718788
47 KCNV2 NM_133497.4(KCNV2):c.882C>T (p.Gly294=) SNV Uncertain significance 366417 rs750779235 GRCh37: 9:2718621-2718621
GRCh38: 9:2718621-2718621
48 KCNV2 NM_133497.4(KCNV2):c.1357-9C>T SNV Uncertain significance 914359 GRCh37: 9:2729437-2729437
GRCh38: 9:2729437-2729437
49 KCNV2 NM_133497.4(KCNV2):c.-94A>T SNV Uncertain significance 914648 GRCh37: 9:2717646-2717646
GRCh38: 9:2717646-2717646
50 KCNV2 NM_133497.4(KCNV2):c.-69G>A SNV Uncertain significance 914649 GRCh37: 9:2717671-2717671
GRCh38: 9:2717671-2717671

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

72
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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