Results 11 to 20 of about 1,104 (159)
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance [PDF]
Human Mutation, 2003 Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our "unaffected" recombinant individual from family 1175 was subsequently found to cross through this interval ...
Steve Nusinowitz +9 more
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Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6 [PDF]
Molecular Therapy: Methods & Clinical Development, 2023 Cone-rod dystrophy 6 (CORD6) is caused by gain-of-function mutations in the GUCY2D gene, which encodes retinal guanylate cyclase-1 (RetGC1). There are currently no treatments available for this autosomal dominant disease, which is characterized by severe,
Russell W. Mellen +8 more
doaj +2 more sources
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D‐LCA phenotype [PDF]
Human Mutation, 2005 Patients carrying mutations in the retinal guanylate cyclase (GUCY2D) gene were reported to be constantly affected with a particular form of Leber congenital amaurosis (LCA) defined as a "congenital stationary cone-rod dystrophy with high hypermetropia, panretinal degeneration and highly reduced visual acuity". We report here, the study of two patients
Beatrice Lebail +10 more
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The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene [PDF]
Ophthalmology Retina, 2022 To describe the spectrum of Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) associated with the GUCY2D gene and to identify potential end points and optimal patient selection for future therapeutic trials.International, multicenter, retrospective cohort study.Eighty-two patients with GUCY2D-associated LCA or CORD from 54 families.Medical
Hahn, LC +30 more
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A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis [PDF]
European Journal of Human Genetics, 2010 Cone-rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss of peripheral vision in adolescence or early adult life. Both genetic and clinical heterogeneity are well known.
Aslıhan Tolun +2 more
openaire +3 more sources
American Journal of Ophthalmology, 2023 To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients.Retrospective case series.Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital ...
Cristina Rodilla +21 more
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Leber Congenital Amaurosis Caused by Mutations in GUCY2D [PDF]
Cold Spring Harbor Perspectives in Medicine, 2014 Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form.
Sanford L. Boye
openaire +3 more sources
IFT88 transports Gucy2d, a guanylyl cyclase, to maintain sensory cilia function inDrosophila [PDF]
, 2020 AbstractCilia are involved in a plethora of motility and sensory-related functions. Ciliary defects cause several ciliopathies, some of which with late-onset, suggesting cilia are actively maintained. While much is known about cilia assembly, little is understood about the mechanisms of their maintenance.
Sascha Werner +10 more
openaire +4 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 ...
Luigi Donato +7 more
doaj +3 more sources
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred [PDF]
BMC Medical Genetics, 2016 Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA.Thirty individuals of a single kindred, including eight affected with LCA, were ...
Dror Sharon +11 more
openaire +4 more sources