Cone Dystrophy

A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA).

Also Known As:

Progressive Cone Dystrophy; Stationary Cone Dystrophy; Cone Dystrophies; Cone Dystrophies, Progressive; Cone Dystrophies, Stationary; Cone Dystrophy, Progressive; Cone Dystrophy, Stationary; Dystrophies, Cone; Dystrophies, Progressive Cone; Dystrophies, Stationary Cone; Dystrophy, Cone; Dystrophy, Progressive Cone; Dystrophy, Stationary Cone; Progressive Cone Dystrophies; Stationary Cone Dystrophies

Networked: 113 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Eye Diseases: 3522
- Retinal Diseases: 3014
  - Cone Dystrophy: 113
- Hereditary Eye Diseases: 18
  - Cone Dystrophy: 113
    - Color Vision Defects: 334

Related Diseases

1.	Macular Edema
2.	Color Vision Defects (Color Blindness)
3.	Retinitis Pigmentosa (Pigmentary Retinopathy)
4.	Cone-Rod Dystrophies
5.	Macular Degeneration (Age-Related Maculopathy)

Experts

1.	Wissinger, Bernd: 7 articles (05/2021 - 11/2006)
2.	Michaelides, Michel: 7 articles (02/2014 - 06/2004)
3.	Kohl, Susanne: 6 articles (05/2021 - 11/2006)
4.	Hunt, David M: 6 articles (01/2019 - 01/2004)
5.	Moore, Anthony T: 6 articles (02/2014 - 06/2004)
6.	Dell'Orco, Daniele: 5 articles (10/2021 - 03/2010)
7.	Neitz, Maureen: 5 articles (12/2019 - 05/2007)
8.	Koch, Karl-Wilhelm: 5 articles (08/2017 - 08/2009)
9.	Cremers, Frans P M: 4 articles (08/2014 - 04/2009)
10.	Holder, Graham E: 4 articles (01/2013 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cone Dystrophy:

1.	Acetazolamide (Diamox)FDA LinkGeneric 01/01/2014 - "Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment."
2.	Retinaldehyde (Retinal)IBA 05/16/2020 - "This study investigates the relationship between retinal vascularization and macular function in patients with cone dystrophies (CDs). " 02/01/2013 - "The presence of normal retinal structures in young cone dystrophy patients with functional impairment (category 0) indicates that electrophysiologic studies are superior to current imaging modalities for the early diagnosis of cone dystrophy. " 05/29/2023 - "Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. " 01/01/2020 - "Analysis of retinal structure and function in cone dystrophy with supernormal rod response." 09/01/2016 - "Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy?"
3.	Proteins (Proteins, Gene)FDA Link 10/06/2021 - "We found a novel variant of GUCA1A in a patient affected by autosomal dominant cone dystrophy (adCOD), leading to the Asn104His (N104H) amino acid substitution at the protein level. " 01/01/2019 - "Mutations in the KCNV2 gene, which encodes the voltage-gated K+ channel protein Kv8.2, cause a distinctive form of cone dystrophy with a supernormal rod response (CDSRR). " 08/17/2017 - "Protein-NP interactions were thoroughly investigated for the wild type (WT) GCAP1 as well as for a variant carrying the Asp 100 to Glu mutation (D100E), which prevents the binding of Ca2+ to the highest affinity site and is linked to cone dystrophy. " 10/15/2012 - "At least 21 genes that encode ciliary proteins are implicated in non-syndromic retinal dystrophies such as cone dystrophy, cone-rod dystrophy, Leber congenital amaurosis (LCA), macular degeneration or retinitis pigmentosa (RP). " 12/20/2000 - "In the last 8 years, studies on guanylate cyclase (GC) regulation by three GC-activating proteins (GCAP1-3) led to several breakthroughs, among them the recent biochemical analysis of GCAP1(Y99) mutants associated with autosomal dominant cone dystrophy. "
4.	Guanylate Cyclase (Guanylyl Cyclase)IBA 01/01/2019 - "To elucidate the clinical phenotypes and pathogenesis of a novel missense mutation in guanylate cyclase activator A1A (GUCA1A) associated with autosomal dominant cone dystrophy (adCOD). " 01/01/2013 - "We adopted this strategy to mimic the phenotype diversity encounter in humans and generate a cohort of pigs for cone dystrophy by expressing a dominant mutant allele of the guanylate cyclase 2D (GUCY2D) gene. " 02/01/1998 - "A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1." 09/01/2001 - "Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3). " 01/01/2017 - "Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). "
5.	Cyclic Nucleotide-Gated Cation ChannelsIBA 07/01/2005 - "Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit." 06/01/2004 - "In this study, a novel Arg403Gln mutation was identified, located in the middle of the pore domain of the cone CNG cation channel beta-subunit, which when associated with the nonsense mutation Thr383fs, resulted in progressive cone dystrophy."
6.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2004 - "In this study, a novel Arg403Gln mutation was identified, located in the middle of the pore domain of the cone CNG cation channel beta-subunit, which when associated with the nonsense mutation Thr383fs, resulted in progressive cone dystrophy."
7.	Cone OpsinsIBA 10/01/2021 - "Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins." 03/22/2013 - "X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene." 01/01/2012 - "A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)." 07/09/2010 - "X-linked cone dystrophy caused by mutation of the red and green cone opsins." 06/01/2005 - "Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy."
8.	DNA (Deoxyribonucleic Acid)IBA 06/01/1997 - "Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and Timmerman in 1981. " 05/01/1994 - "DNA carrier detection in X-linked progressive cone dystrophy." 09/01/2014 - "Clinical data and genomic DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families with Leber congenital amaurosis collected at the Zhongshan Ophthalmic Center, Guangzhou, China. " 01/01/2005 - "We found a heterozygous G to C substitution in the 5' untranslated region (UTR) of the PDE6H gene in the DNA of a patient with a distinctive form of cone dystrophy, her sibling, and their father. "
9.	PeripherinsIBA 04/01/2009 - "When caused by a p.Arg142Trp mutation in the peripherin/RDS gene, CACD causes a central cone dystrophy phenotype. " 02/01/1997 - "A peripherin/RDS sequence change may produce a cone dystrophy with minimal ophthalmoscopic changes in the macula and limited peripheral degenerative changes. " 02/01/1997 - "Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy." 01/01/2019 - "These findings open new avenues of research to explore the biological role of the LE in the biosynthetic pathway and the etiology of cone dystrophy caused by PRPH2 mutations and/or malfunctions of the LE.SIGNIFICANCE STATEMENT Peripherin 2 (PRPH2) is a tetraspanin protein abundantly expressed in the light-sensing cilium, the outer segment, of the vertebrate photoreceptor. "
10.	OpsinsIBA 06/01/2005 - "To define the distribution of the red/green and blue opsins in cones from donor eyes from an affected member of a clinically well-characterized family with an autosomal dominant form of cone dystrophy. " 01/01/2017 - "Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X." 05/01/2017 - "Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations."

Therapies and Procedures

1.	Therapeutics 01/01/2019 - "These findings represent the first genetic nonhuman primate model of an inherited retinal disease, and provide an ideal testing ground for the development of novel gene replacement, gene editing, and cell replacement therapies for cone dystrophies." 10/15/2016 - "These findings suggest a crucial role for HDAC activity in primary cone degeneration and highlight a new avenue for future therapy developments for cone dystrophies and retinal diseases associated with impaired cone migration." 05/01/2000 - "The Mas1 transgenic mice may be useful in understanding the cone photoreceptor degeneration that occurs in cone dystrophies and age-related macular degeneration and in evaluating potential therapies for these disorders." 10/01/2021 - "The understanding of the molecular mechanisms associated with these cone opsin mutants is fundamental to developing targeted therapies for cone dystrophy/dysfunction." 01/01/2014 - "Patients with cone dystrophy can accumulate intraretinal edema in the macula, which may respond to carbonic anhydrase therapy."
2.	Contact Lenses 10/01/2010 - "Progressive cone dystrophy, nystagmus and contact lenses." 10/01/2010 - "To describe the contact lens fitting of a 13-year-old girl who suffers from progressive cone dystrophy with associated nystagmus and achromatopsia and a high hyperopic-astigmatic prescription. " 08/01/2006 - "Tinted contact lenses offer an alternative management of the photophobia associated with stationary cone dystrophies in children. " 08/01/2006 - "Tinted contact lenses as an alternative management for photophobia in stationary cone dystrophies in children." 08/01/2007 - "Other patient groups with retinal dystrophies associated with prolonged dark adaptation or dysfunction of the cone system, such as cone dystrophies or achromatopsia, may also benefit from this type of contact lens."
3.	Aftercare (After-Treatment) 04/01/2016 - "These results provide insight into how higher-level cortical vision is normally organised in absence of cone input, and provide a basis for comparison with patients with cone dystrophies, before and after treatments aiming to restore cone function. " 10/01/2006 - "albipunctatus after treatment with 9-cis-retinal, suggesting a potential approach to slow the progression of cone dystrophy in affected humans."
4.	Slit Lamp 01/01/2023 - "Sixty-three individuals of a single kindred, including 23 affected with cone dystrophies, were recruited and received ocular examinations, including best corrected visual acuity, intraocular pressure, slit-lamp biomicroscopy, color fundus photograph (CFP), fundus autofluorescence, optical coherence tomography, fluorescence fundus angiography, color vision testing, full-field electroretinography, and electro-oculogram. "
5.	Laser Coagulation 07/01/2000 - "The potential of this new technique is demonstrated by showing the topography of physiological vessel structures as well as of selected vascular diseases such as cone dystrophy, RPE detachment, choroidal haemangioma and retinal laser coagulation. "