NMNAT1 variants cause cone and cone-rod dystrophy. [PDF]
Eur J Hum Genet, 2018 Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA).
Nash BM +6 more
europepmc +6 more sources
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family [PDF]
BMC Ophthalmology, 2021 Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field.
Yafang Wang +7 more
doaj +3 more sources
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. [PDF]
Int J Mol Sci, 2021 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 and genetically described.
Smirnov V +19 more
europepmc +4 more sources
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy [PDF]
Scientific Reports, 2022 Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger ...
Benedetto Falsini +13 more
doaj +3 more sources
Definitions, 2020 The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision
INSERM
semanticscholar +4 more sources
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2019 Purpose Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision.
Sheikh SA +12 more
europepmc +4 more sources
Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. [PDF]
Hum Mol Genet, 2023 Canine RPGRIP1-cone-rod dystrophy (CRD), a model for human inherited retinal diseases (IRDs), was originally identified as autosomal recessive early-onset blindness.
Ripolles-Garcia A +7 more
europepmc +2 more sources
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. [PDF]
PLoS One, 2022 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 ...
Donato L +7 more
europepmc +2 more sources
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2022 Purpose The purpose of this study was to elucidate the genetic basis of 2 distinct phenotypes associated with biallelic variants in RDH12. Methods Patients with biallelic variants in RDH12 were recruited from our genetic eye clinic.
Wang J +11 more
europepmc +2 more sources
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. [PDF]
Invest Ophthalmol Vis Sci, 2022 Purpose Autosomal dominant cone rod dystrophy 7 (CORD7) was initially linked to the gene RIMS1 and reported in a 4-generation British family in 1998.
Martin-Gutierrez MP +9 more
europepmc +2 more sources