MCID: CND005
MIFTS: 45

Cone Dystrophy

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone Dystrophy

MalaCards integrated aliases for Cone Dystrophy:

Name: Cone Dystrophy 12 77 54 15 74
Retinal Cone Dystrophy 12
Cone Dystrophy 3 74
Dystrophy, Cone 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0050795

Summaries for Cone Dystrophy

NIH Rare Diseases : 54 Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy.Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.

MalaCards based summary : Cone Dystrophy, also known as retinal cone dystrophy, is related to cone dystrophy 4 and cone dystrophy 3, and has symptoms including photophobia An important gene associated with Cone Dystrophy is GUCA1A (Guanylate Cyclase Activator 1A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are vision/eye and pigmentation

Disease Ontology : 12 A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.

Wikipedia : 77 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone Dystrophy

Diseases in the Cone Dystrophy family:

Cone Dystrophy 3 Cone Dystrophy 4

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 4 34.2 CACNA2D4 PDE6C
2 cone dystrophy 3 34.0 CACNA2D4 GUCA1A KCNV2 PDE6H
3 blue cone monochromacy 32.1 CNGB3 OPN1LW OPN1MW RHO
4 cone-rod dystrophy, x-linked, 2 32.0 OPN1LW RPGR
5 cone-rod dystrophy 5 31.8 CNGB3 PITPNM3
6 cone-rod dystrophy 6 31.7 CNGB3 GUCA1A PDE6C PDE6H RPGR
7 cone-rod dystrophy 2 31.5 GUCA1A RHO RPGR
8 color vision deficiency 30.0 OPN1LW OPN1MW
9 retinitis pigmentosa 29.4 BEST1 CACNA2D4 GUCA1A OPN1LW OPN1MW PITPNM3
10 congenital stationary night blindness 29.4 CACNA2D4 CNGB3 RHO
11 macular degeneration, age-related, 1 29.2 BEST1 RHO RLBP1
12 myopia 29.1 OPN1LW RHO RPGR
13 achromatopsia 28.9 CNGB3 OPN1LW OPN1MW PDE6C PDE6H RPGR
14 retinal degeneration 28.6 BEST1 GUCA1A RHO RLBP1 RPGR
15 fundus dystrophy 27.4 BEST1 CNGB3 GUCA1A KCNV2 PDE6C PDE6H
16 retinal cone dystrophy 3b 12.7
17 retinal cone dystrophy 3a 12.6
18 newfoundland rod-cone dystrophy 12.6
19 retinal cone dystrophy 4 12.5
20 cone dystrophy, x-linked, with tapetal-like sheen 12.3
21 peripheral cone dystrophy 12.3
22 retinal cone dystrophy 1 12.2
23 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.1
24 oculoauricular syndrome 11.7
25 vitreoretinochoroidopathy 11.5
26 cone-rod dystrophy, x-linked, 1 11.4
27 cone-rod dystrophy, x-linked, 3 11.1
28 cone-rod dystrophy 7 11.1
29 cone-rod dystrophy 3 11.1
30 cone-rod dystrophy 13 11.1
31 cone-rod dystrophy 10 11.1
32 cone-rod dystrophy 11 11.1
33 cone-rod dystrophy 12 11.1
34 cone-rod dystrophy 9 11.1
35 cone-rod dystrophy 15 11.1
36 retinitis pigmentosa 38 11.1
37 cone-rod dystrophy 16 11.1
38 cone-rod dystrophy 18 11.1
39 cone-rod dystrophy 19 11.1
40 cone-rod dystrophy 20 11.1
41 cone-rod dystrophy 21 11.1
42 cone-rod dystrophy and hearing loss 1 11.1
43 leber congenital amaurosis 4 11.0
44 retinitis pigmentosa 69 11.0
45 bardet-biedl syndrome 12 11.0
46 retinal dystrophy and obesity 11.0
47 oguchi disease 11.0
48 oligocone trichromacy 10.2 CNGB3 PDE6C
49 fundus albipunctatus 10.2
50 jalili syndrome 10.2 CNGB3 PDE6C

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



Diseases related to Cone Dystrophy

Symptoms & Phenotypes for Cone Dystrophy

UMLS symptoms related to Cone Dystrophy:


photophobia

MGI Mouse Phenotypes related to Cone Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 BEST1 CACNA2D4 CNGB3 GUCA1A OPN1LW PDE6C
2 pigmentation MP:0001186 9.26 BEST1 RHO RLBP1 RPGR

Drugs & Therapeutics for Cone Dystrophy

Drugs for Cone Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4 Anti-Infective Agents Phase 1, Phase 2
5 Antiviral Agents Phase 1, Phase 2
6 Interferon-gamma Phase 1, Phase 2
7 interferons Phase 1, Phase 2
8 Ophthalmic Solutions Phase 1, Phase 2
9 Mitogens Phase 1, Phase 2
10 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
2 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
3 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
4 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
5 Gene Therapy for Achromatopsia (CNGA3) Not yet recruiting NCT03758404 Phase 1, Phase 2
6 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
7 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
8 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
9 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
10 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
11 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
12 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
13 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
14 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
15 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
16 Biomarker for Duchenne Disease Recruiting NCT02994030
17 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
18 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
19 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536

Search NIH Clinical Center for Cone Dystrophy

Genetic Tests for Cone Dystrophy

Anatomical Context for Cone Dystrophy

MalaCards organs/tissues related to Cone Dystrophy:

42
Eye, Retina, Liver, Testes

Publications for Cone Dystrophy

Articles related to Cone Dystrophy:

(show top 50) (show all 176)
# Title Authors Year
1
A novel mutation in MERTK for rod-cone dystrophy in a North Indian family. ( 30851773 )
2019
2
Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. ( 30877594 )
2019
3
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. ( 29377742 )
2018
4
Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )
2018
5
Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy. ( 29947570 )
2018
6
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. ( 29220607 )
2018
7
Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report. ( 29643798 )
2018
8
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. ( 30116628 )
2018
9
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. ( 30242501 )
2018
10
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy. ( 30267408 )
2018
11
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). ( 30578485 )
2018
12
Long term follow-up of a family with GUCY2D dominant cone dystrophy. ( 30588428 )
2018
13
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. ( 30588538 )
2018
14
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. ( 29057815 )
2017
15
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. ( 28356705 )
2017
16
A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. ( 29120066 )
2017
17
CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION. ( 29210963 )
2017
18
NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION. ( 29016529 )
2017
19
Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family. ( 28746191 )
2017
20
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. ( 28516000 )
2017
21
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. ( 28398482 )
2017
22
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. ( 28442884 )
2017
23
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. ( 28358949 )
2017
24
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations. ( 27245533 )
2016
25
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. ( 27977773 )
2016
26
Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? ( 27982211 )
2016
27
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ( 27067258 )
2016
28
Bilateral focal choroidal excavation in cone dystrophy. ( 27012694 )
2016
29
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION. ( 27685498 )
2016
30
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. ( 25692139 )
2015
31
Cone dystrophy in patient with homozygous RP1L1 mutation. ( 25692141 )
2015
32
Multimodal imaging of a case of peripheral cone dystrophy. ( 25708979 )
2015
33
Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression. ( 25603773 )
2015
34
ROD-CONE DYSTROPHY ASSOCIATED WITH WILLIAMS SYNDROME. ( 26296051 )
2015
35
A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene. ( 24480840 )
2014
36
Linear sebaceous nevus syndrome associated with rod-cone dystrophy. ( 25314308 )
2014
37
Rod-cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. ( 24547929 )
2014
38
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. ( 24680887 )
2014
39
Peripheral Cone Dystrophy: A Diagnostic Improbability? ( 24705257 )
2014
40
Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction. ( 24566882 )
2014
41
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. ( 25372533 )
2014
42
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. ( 25342276 )
2014
43
An association between subclinical familial exudative vitreoretinopathy and rod-cone dystrophy. ( 25494382 )
2014
44
Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". ( 23221069 )
2013
45
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. ( 23456543 )
2013
46
Optical coherence tomography in progressive cone dystrophy. ( 23549508 )
2013
47
Paracentral cone dystrophy with tapetal-like sheen and mizuo phenomenon examined with different imaging techniques. ( 25391119 )
2013
48
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. ( 23977029 )
2013
49
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function. ( 24370833 )
2013
50
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. ( 23143909 )
2013

Variations for Cone Dystrophy

Expression for Cone Dystrophy

Search GEO for disease gene expression data for Cone Dystrophy.

Pathways for Cone Dystrophy

GO Terms for Cone Dystrophy

Cellular components related to Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.26 GUCA1A OPN1LW OPN1MW RHO
2 photoreceptor inner segment GO:0001917 9.16 GUCA1A RHO
3 photoreceptor outer segment GO:0001750 9.02 CNGB3 OPN1LW OPN1MW RHO RPGR

Biological processes related to Cone Dystrophy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.84 BEST1 CACNA2D4 CNGB3 KCNV2
2 response to stimulus GO:0050896 9.65 BEST1 CNGB3 GUCA1A OPN1LW OPN1MW PDE6C
3 retinoid metabolic process GO:0001523 9.56 OPN1LW OPN1MW RHO RLBP1
4 cellular response to light stimulus GO:0071482 9.54 OPN1LW OPN1MW RHO
5 positive regulation of cytokinesis GO:0032467 9.51 OPN1LW OPN1MW
6 protein-chromophore linkage GO:0018298 9.5 OPN1LW OPN1MW RHO
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.49 GUCA1A RHO
8 detection of light stimulus involved in visual perception GO:0050908 9.48 BEST1 CACNA2D4
9 detection of visible light GO:0009584 9.46 OPN1LW OPN1MW
10 phototransduction GO:0007602 9.46 GUCA1A OPN1LW OPN1MW RHO
11 sensory perception of light stimulus GO:0050953 9.43 PDE6C RHO
12 phototransduction, visible light GO:0007603 9.4 PDE6C RHO
13 visual perception GO:0007601 9.32 BEST1 CNGB3 GUCA1A OPN1LW OPN1MW PDE6C
14 signal transduction GO:0007165 10 CNGB3 GUCA1A OPN1LW OPN1MW PDE6C RHO

Molecular functions related to Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6C PDE6H
2 cGMP binding GO:0030553 9.33 CNGB3 PDE6C PDE6H
3 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.32 PDE6C PDE6H
4 11-cis retinal binding GO:0005502 9.26 RHO RLBP1
5 G protein-coupled photoreceptor activity GO:0008020 9.13 OPN1LW OPN1MW RHO
6 photoreceptor activity GO:0009881 8.8 OPN1LW OPN1MW RHO

Sources for Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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