GUCY2D-Associated Retinopathy: A Comparative Study Between Humans and German Spitz Dogs [PDF]
Veterinary SciencesThe anatomical and physiological similarities between human and canine eyes suggest that dogs may serve as a valuable model for studying retinopathies and developing future gene therapies.
Bianca L. V. Guareschi +8 more
doaj +4 more sources
A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review [PDF]
American Journal of Ophthalmology Case ReportsPurpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu +6 more
doaj +4 more sources
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 mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e [PDF]
Frontiers in Molecular Neuroscience, 2023 During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss.
Anna S. E. N. Naggert +4 more
doaj +3 more sources
Preclinical studies in support of phase I/II clinical trials to treat GUCY2D-associated Leber congenital amaurosis [PDF]
Molecular Therapy: Methods & Clinical Development, 2023 Mutations in GUCY2D are associated with severe early-onset retinal dystrophy, Leber congenital amaurosis type 1 (LCA1), a leading cause of blindness in children.
Sanford L. Boye +12 more
doaj +2 more sources
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. [PDF]
PLoS ONE, 2014 PurposeRetinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative
Christopher M Watson +13 more
doaj +9 more sources
Retinal Viral Gene Therapy: Impact of Route of Administration on Serious Adverse Events-A Systematic Review. [PDF]
Clin Exp OphthalmolABSTRACT Background To explore the prevalence of serious adverse events (SAEs) associated with retinal viral gene therapy and to examine trends influencing SAE occurrences in human gene therapy surgeries and pre‐clinical animal trials. Methods Literature review was performed to identify peer‐reviewed human and animal studies relevant to viral gene ...
Berger A +3 more
europepmc +2 more sources
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review. [PDF]
Clin Exp OphthalmolABSTRACT Phototransduction, the process by which captured photons elicit electrical changes in retinal rod and cone cells, represents the first neuronal step in vision and involves interactions between several highly specialised proteins. Pathogenic variants in genes encoding many of these proteins can give rise to significant vision impairment ...
Wong WM, Mahroo OA.
europepmc +2 more sources
Evolution of visual guanylyl cyclases and their activating proteins with respect to clade and species-specific visual system adaptation [PDF]
Frontiers in Molecular Neuroscience, 2023 Membrane guanylyl cyclase receptors are important regulators of local cGMP production, critically influencing cell growth and differentiation as well as ion transport, blood pressure and calcium feedback of vertebrate phototransduction.
Matthias Gesemann +1 more
doaj +2 more sources
De novo variant in GUCY2D gene causing atypical cone-rod dystrophy in a consanguineous family and literature review [PDF]
International Journal of OphthalmologyAIM: To analyze the pathogenicity and clinical features of patients in a consanguineous cone-rod dystrophy (CRD) family due to heterozygous variants in the GUCY2D gene. METHODS: Whole exome sequencing was used to screen for pathogenic genes and candidate
Xin-He Fang +8 more
doaj +2 more sources