ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02182-y
Abstract: Cone-rod dystrophy (CORD) is an inherited retinal degenerative disease characterized by progressive loss of cone and rod photoreceptors. Although several genes have been reported to cause autosomal dominant CORD (adCORD), the genetic causes of adCORD… read more here.
Keywords: cause; rod dystrophy; cone rod; cone ... See more keywords
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-22096-0
Abstract: Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in… read more here.
Keywords: 251 consecutive; cone cone; cone rod; cone ... See more keywords
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-52660-1
Abstract: GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD). GUCA1A-associated AD-COD/CORD has never been reported in the Japanese population. The purpose of this study was to investigate clinical… read more here.
Keywords: guca1a associated; rod dystrophy; dominant cone; cone rod ... See more keywords
MFSD8 gene mutations; evidence for phenotypic heterogeneity
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1592200
Abstract: ABSTRACT Background: Cone–rod dystrophies are a group of genetically and phenotypically heterogeneous inherited degenerative retinal diseases primarily affecting macular and cone system function. MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid… read more here.
Keywords: cone; cone rod; dystrophy; mfsd8 gene ... See more keywords
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1622023
Abstract: ABSTRACT Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes have been identified to cause the disease. We aimed to investigate… read more here.
Keywords: dystrophy; rod dystrophy; form; crx gene ... See more keywords
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2103834
Abstract: The patient is a 54-year-old woman with a past medical history of ulcerative colitis under mesalazine treatment and allergic rhinitis under inhaled fluticasone. Her parents were nonconsanguineous. She was diagnosed with severe anisomyopic amblyopia in… read more here.
Keywords: cone rod; abca4 related; eye; amblyopic eye ... See more keywords
Using deep learning for the automated identification of cone and rod photoreceptors from adaptive optics imaging of the human retina.
Sign Up to like & getrecommendations! Published in 2022 at "Biomedical optics express"
DOI: 10.1364/boe.470071
Abstract: Adaptive optics imaging has enabled the enhanced in vivo retinal visualization of individual cone and rod photoreceptors. Effective analysis of such high-resolution, feature rich images requires automated, robust algorithms. This paper describes RC-UPerNet, a novel… read more here.
Keywords: cone rod; optics imaging; rod photoreceptors; adaptive optics ... See more keywords
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1371/journal.pone.0278857
Abstract: Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to determine a… read more here.
Keywords: family; cone; cone rod; modifier genes ... See more keywords
Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.12.04
Abstract: AIM To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation… read more here.
Keywords: cone rod; autosomal dominant; chinese families; mutation ... See more keywords
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20194854
Abstract: Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of… read more here.
Keywords: underlying genetic; genetic defects; rod dystrophies; cone cone ... See more keywords
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22126410
Abstract: Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically… read more here.
Keywords: dystrophy; rod dystrophy; cod cord; cone rod ... See more keywords