Cone-Rod Dystrophies

Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.

Also Known As:

Cone-Rod Degenerations; Cone-Rod Dystrophy; Cone-Rod Dystrophy 2; Cone-Rod Retinal Dystrophy; Retinal Cone-Rod Dystrophy; Rod Cone Dystrophies; Cone Rod Degenerations; Cone Rod Dystrophies; Cone Rod Dystrophy; Cone Rod Dystrophy 2; Cone Rod Retinal Dystrophy; Cone-Rod Degeneration; Cone-Rod Dystrophies, Retinal; Cone-Rod Dystrophy, Retinal; Cone-Rod Retinal Dystrophies; Retinal Cone Rod Dystrophy; Retinal Cone-Rod Dystrophies; Retinal Dystrophies, Cone-Rod; Retinal Dystrophy, Cone-Rod; Rod Cone Dystrophy; Rod-Cone Dystrophies; Rod-Cone Dystrophy

Networked: 292 relevant articles (4 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Color Vision Defects (Color Blindness)
2.	Dyslexia (Alexia)
3.	Retinal Dystrophies
4.	Corneal Opacity
5.	Retinitis Pigmentosa (Pigmentary Retinopathy)

Experts

1.	Audo, Isabelle: 17 articles (06/2022 - 07/2010)
2.	Zeitz, Christina: 17 articles (06/2022 - 07/2010)
3.	Sahel, José-Alain: 16 articles (06/2022 - 02/2005)
4.	Antonio, Aline: 10 articles (06/2022 - 07/2010)
5.	Mohand-Saïd, Saddek: 10 articles (07/2021 - 07/2010)
6.	Condroyer, Christel: 8 articles (06/2022 - 04/2014)
7.	Michiels, Christelle: 8 articles (07/2021 - 04/2014)
8.	Banin, Eyal: 8 articles (01/2020 - 05/2009)
9.	Moore, Anthony T: 8 articles (11/2019 - 09/2005)
10.	Léveillard, Thierry: 7 articles (10/2021 - 02/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cone-Rod Dystrophies:

1.	Retinaldehyde (Retinal)IBA 11/01/2012 - "These results demonstrate for the first time that gene therapy effectively restores long-term retinal function and vision in a large animal model of autosomal recessive rod-cone dystrophy, and provide great promise for human treatment." 09/20/2023 - "Clinical presentation, multimodal retinal imaging studies, electroretinography, and mesopic microperimetry were typical of a progressive rod-cone dystrophy (i.e. " 06/01/2010 - "This study used fine anatomic and functional assessments within this region to determine whether the loss of retinal function was due to progressive schisis or a primary photoreceptor loss, similar to other rod-cone dystrophies. " 06/01/2006 - "This study examines a patient with cone-rod dystrophy using high-resolution adaptive optics retinal imaging. " 12/01/2023 - "Follow-up for Family 1 revealed deterioration of pan-retinal function (non-recordable ERGs by 11 and 7 years old) and thus a final diagnosis of cone-rod dystrophy. "
2.	Retinal Pigments (Pigments, Visual)IBA 06/01/2005 - "We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8. A finding that has been described in several patients with trisomy 8 is a central corneal opacity, but there are no data regarding the natural history of this finding; the corneal opacity in our patient spontaneously improved. " 04/01/1999 - "It helped to differentiate isolated retinal pigment changes with normal electroretinogram from functional retinal impairment and rod-cone dystrophy from other retinal dystrophies." 01/01/1995 - "In another autosomal dominant pedigree, a nonsense mutation at codon 46 caused 'inverse' retinitis pigmentosa-like fundus changes associated with progressive cone-rod degeneration in a 58-year-old man, whereas his 40-year-old son presented with yellow deposits in the retinal pigment epithelial layer resembling a pattern dystrophy, and with moderately reduced rod and cone function, as determined by two colour dark adapted threshold perimetry and electroretinography. "
3.	cone rod homeobox proteinIBA 01/01/2021 - "This study aims to evaluate the pathogenesis of cone/cone-rod dystrophy (CoD/CoRD) caused by a cone-rod homeobox (CRX) mutation, which was identified in a Chinese family, through adeno-associated virus (AAV)-mediated overexpression of mutant CRX protein in the mouse retina. " 01/01/2021 - "Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina." 04/15/2003 - "As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy." 09/01/2000 - "Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells. "
4.	retinol dehydrogenaseIBA 07/01/2007 - "The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). " 04/29/2011 - "Here, we report a role for toll-like receptor 3 (TLR3) in cone-rod dystrophy (CORD) of mice lacking ATP-binding cassette transporter 4 (ABCA4) and retinol dehydrogenase 8 (RDH8), proteins critical for all-trans-retinal clearance in the retina. "
5.	CalbindinsIBA 03/01/1995 - "The study of spatially expressed genes, like the one encoding calbindin D-28K, may help explain the patterns of retinal degeneration seen in some human cone-rod dystrophies."
6.	Proteins (Proteins, Gene)FDA Link 10/01/2020 - "Missense mutations affecting Ca2+-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties." 01/01/2018 - "Only few mutations in genes coding for proteins of the phototransduction cascade lead to this condition; most of these gene defects cause progressive rod-cone dystrophy. " 10/18/2017 - "We identified herein additional patients with rod-cone dystrophy (RCD) displaying mutations in KIZ, encoding the ciliary centrosomal protein kizuna and performed functional characterization of the respective protein in human fibroblasts and of its mouse ortholog PLK1S1 in the retina. " 10/18/2017 - "Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy." 08/07/2014 - "Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy."
7.	Guanylate Cyclase (Guanylyl Cyclase)IBA 06/01/2010 - "A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca(2+)-sensing and its guanylate cyclase-activating properties. " 01/01/2001 - "Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1." 12/01/2000 - "Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family." 10/17/2000 - "Impairment of the rod outer segment membrane guanylate cyclase dimerization in a cone-rod dystrophy results in defective calcium signaling." 10/19/1999 - "Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling."
8.	ATP-Binding Cassette Transporters (ABC Transporters)IBA 11/21/2019 - "Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). " 01/01/2006 - "Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, Retinitis pigmentosa and probably age-related macular degeneration. " 01/01/2023 - "The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone-rod dystrophy (CRD), and pan-retinal CRD. " 12/28/2012 - "The retina-specific ATP binding cassette transporter, ABCA4 protein, is associated with a broad range of inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus. " 08/24/2002 - "Patients with autosomal recessive retinitis pigmentosa, the most severe of these three phenotypes, invariably carry ABCA4 inactivating mutations; patients with autosomal recessive cone-rod dystrophy and Stargardt disease carry combinations of mutations that do not completely inactivate the retina specific 'ATP-binding cassette transporter' (ABCR) protein. "
9.	DNA (Deoxyribonucleic Acid)IBA 01/01/2019 - "Clinical examination and genomic DNA extraction were collected from two unrelated Iranian families presenting with autosomal recessive cone-rod dystrophy. " 01/01/2019 - "A detailed family history, clinical data, and blood samples were collected from 11 members of the family, including 4 affected by an autosomal recessive rod-cone dystrophy (arRCD), and DNA was extracted. " 07/01/2008 - "To determine the prevalence and mutation spectrum of ABCA4 gene mutations in non-Stargardt phenotypes, we have screened 64 unrelated patients with autosomal recessive cone (arCD) and cone rod dystrophy (arCRD) applying the Asper Ophthalmics ABCR400 microarray followed by DNA sequencing of all coding exons of the ABCA4 gene in subjects with single heterozygous mutations. " 04/01/2023 - "The DNA analysis identified an autosomal dominant c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 associated with autosomal dominant cone-rod dystrophy and rod-cone dystrophy. " 09/16/2008 - "We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 patients affected with Leber's congenital amaurosis (LCA), 62 with autosomal recessive retinitis pigmentosa (arRP), and 21 with autosomal dominant/recessive cone-rod dystrophies (CORD). "
10.	Codon (Codons)IBA 12/01/2020 - "Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy." 01/01/1996 - "Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. " 01/01/1996 - "Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene." 01/01/1998 - "Visual function in sectorial retinitis pigmentosa associated with rhodopsin gene codon 15 mutation is on the basis of the rod-cone dystrophy, regardless of differences in phenotypic expression." 05/01/2004 - "All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. "

Therapies and Procedures

1.	Lenses 09/01/2022 - "Background In this study, we aimed to evaluate the efficacy of chromagen lenses and compare the pre- and post-intervention outcomes among individuals with non-ocular conditions such as dyslexia and Irlen syndrome and ocular conditions such as color vision deficiency (CVD) and cone-rod dystrophy (CRD). "
2.	Therapeutics 02/01/2005 - "These studies provide clues for broad neuroprotective therapies of rod-cone dystrophies." 01/01/2023 - "Scotopic microperimetry works well in patients with early disease, allowing the extension of recruitment criteria for novel therapies of rod-cone dystrophies." 08/13/2021 - "This exposed site could be targeted by therapeutics designed to inhibit the GCAP1 disease mutants, which may serve to mitigate the onset of retinal cone-rod dystrophies." 08/01/2020 - "Functional visual characteristics of this subset of patients followed a linear decline as in other typical rod-cone dystrophy, but structural changes were variable indicating the need for a case-by-case evaluation for prognostic prediction and choice of potential therapies." 01/24/2019 - "Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy."
3.	Lasers (Laser) 07/01/2007 - "Adaptive optics scanning laser ophthalmoscopy (AOSLO) images of photoreceptors were obtained in 16 eyes: five with retinitis pigmentosa (RP), three with cone-rod dystrophy (CRD), and eight without retinal disease. " 10/01/2020 - "The PubMed database was searched using the following phrases: "laser photocoagulation", "subthreshold laser", "nanolaser", "micropulse laser", "retinitis pigmentosa", "rod-cone dystrophy", and "retinal dystrophy". " 05/01/2007 - "Adaptive optics scanning laser ophthalmoscopy (AOSLO) was used to image the macular region in patients with retinal degenerative diseases, including two patients with cone-rod dystrophy and one with bilateral progressive maculopathy. " 06/01/2006 - "High-resolution retinal images of a patient with cone-rod dystrophy were obtained with the University of Rochester adaptive optics flood-illuminated ophthalmoscope and the adaptive optics scanning laser ophthalmoscope located at the University of Houston and compared with standard clinical tests, including fundus photography, Goldmann visual fields, fluorescein angiography, optical coherence tomography, electroretinography, and multifocal electroretinography. "
4.	Slit Lamp 07/12/2013 - "Eight patients--four diagnosed with retinitis pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 mutations--were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence (AF) imaging, and fundus photography. " 01/01/2015 - "A 14-year-old Asian Indian girl with characteristic facies and heart murmur, and with findings on ophthalmoscopy, slit-lamp biomicroscopy, fundus autofluorescence imaging, optical coherence tomography, full-field electroretinography, and multifocal electroretinography consistent with panretinal rod-cone dystrophy, has been reported. "
5.	Cell- and Tissue-Based Therapy (Cell Therapy) 02/01/2005 - "Neuroprotection of photoreceptor cells in rod-cone dystrophies: from cell therapy to cell signalling. " 02/01/2005 - "[Neuroprotection of photoreceptor cells in rod-cone dystrophies: from cell therapy to cell signalling]."