scholarly journals The role of electrophysiology in detecting and following retinal dystrophies

2010 ◽  
Vol 8 (17) ◽  
pp. 38-38
Author(s):  
D. G. Birch
Keyword(s):  
Retinal Dystrophies

scholarly journals Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

2020 ◽  
Vol 9 (2) ◽  
pp. 249-263 ◽  
Author(s):  
Maria Vittoria Cicinelli ◽  
Alessandro Marchese ◽  
Alessandro Bordato ◽  
Maria Pia Manitto ◽  
Francesco Bandello ◽  
...  
Keyword(s):  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies

scholarly journals The role of molecular genetics in the prenatal diagnosis of retinal dystrophies

Eye ◽  
1995 ◽  
Vol 9 (1) ◽  
pp. 24-28 ◽  
Author(s):  
K Evans ◽  
C Y Gregory ◽  
A Fryer ◽  
J Whittaker ◽  
J Duvall-Young ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Genetics ◽  
Retinal Dystrophies

The Role of the Peripherin/RDS Gene in Retinal Dystrophies

1998 ◽  
Vol 162 (2-3) ◽  
pp. 75-84 ◽  
Author(s):  
S. Kohl ◽  
I. Giddings ◽  
D. Besch ◽  
E. Apfelstedt-Sylla ◽  
E. Zrenner ◽  
...  
Keyword(s):  
Retinal Dystrophies ◽  
I Gene

scholarly journals Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 473
Author(s):  
Carla Fuster-García ◽  
Belén García-Bohórquez ◽  
Ana Rodríguez-Muñoz ◽  
José M. Millán ◽  
Gema García-García
Keyword(s):  
Vision Loss ◽  
Disease Modeling ◽  
Functional Studies ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies ◽  
Molecular Imprint ◽  
Large Rearrangements

Inherited retinal dystrophies are an assorted group of rare diseases that collectively account for the major cause of visual impairment of genetic origin worldwide. Besides clinically, these vision loss disorders present a high genetic and allelic heterogeneity. To date, over 250 genes have been associated to retinal dystrophies with reported causative variants of every nature (nonsense, missense, frameshift, splice-site, large rearrangements, and so forth). Except for a fistful of mutations, most of them are private and affect one or few families, making it a challenge to ratify the newly identified candidate genes or the pathogenicity of dubious variants in disease-associated loci. A recurrent option involves altering the gene in in vitro or in vivo systems to contrast the resulting phenotype and molecular imprint. To validate specific mutations, the process must rely on simulating the precise genetic change, which, until recently, proved to be a difficult endeavor. The rise of the CRISPR/Cas9 technology and its adaptation for genetic engineering now offers a resourceful suite of tools to alleviate the process of functional studies. Here we review the implementation of these RNA-programmable Cas9 nucleases in culture-based and animal models to elucidate the role of novel genes and variants in retinal dystrophies.

scholarly journals CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

2021 ◽  
Vol 22 (23) ◽  
pp. 12642
Author(s):  
Kévin Mairot ◽  
Vasily Smirnov ◽  
Béatrice Bocquet ◽  
Gilles Labesse ◽  
Carl Arndt ◽  
...  
Keyword(s):  
Protein Interactions ◽  
Retinal Dystrophy ◽  
Müller Cells ◽  
Macular Dystrophy ◽  
Muller Cells ◽  
Pathogenic Variants ◽  
Retinal Dystrophies ◽  
Isoform B ◽  
Genotype Correlation

Pathogenic variants in CRB1 lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genotype correlation of 50 patients with regards to the recently identified CRB1 isoforms: a canonical long isoform A localized in Müller cells (12 exons) and a short isoform B predominant in photoreceptors (7 exons). Twenty-eight patients with early onset retinal dystrophy (EORD) consistently had a severe Müller impairment, with variable impact on the photoreceptors, regardless of isoform B expression. Among them, two patients expressing wild type isoform B carried one variant in exon 12, which specifically damaged intracellular protein interactions in Müller cells. Thirteen retinitis pigmentosa patients had mainly missense variants in laminin G-like domains and expressed at least 50% of isoform A. Eight patients with the c.498_506del variant had macular dystrophy. In one family homozygous for the c.1562C>T variant, the brother had EORD and the sister macular dystrophy. In contrast with the mouse model, these data highlight the key role of Müller cells in the severity of CRB1-related dystrophies in humans, which should be taken into consideration for future clinical trials.

scholarly journals Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates Retinitis Pigmentosa and Enhanced S-cone Syndrome models

2020 ◽  
Author(s):  
Izarbe Aísa-Marín ◽  
M José López-Iniesta ◽  
Santiago Milla ◽  
Jaume Lillo ◽  
Gemma Navarro ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mouse Models ◽  
Functional Domain ◽  
List Type ◽  
Dimerization Domain ◽  
Adult Retina ◽  
Retinal Dystrophies ◽  
Enhanced S Cone Syndrome ◽  
Short Protein

ABSTRACTMutations in NR2E3 cause retinitis pigmentosa (RP) and enhanced S-cone syndrome (ESCS) in humans. This gene produces a large isoform encoded in 8 exons and a previously unreported shorter isoform of 7 exons, whose function is unknown. We generated two mouse models by targeting exon 8 of Nr2e3 using CRISPR/Cas9-D10A nickase. Allele Δ27 is an in-frame deletion of 27 bp that ablates the dimerization domain, whereas allele ΔE8 (full deletion of exon 8), produces only the short isoform that lacks the dimerization and repressor domains. The Δ27 mutant shows developmental alterations and a non-progressive electrophysiological dysfunction that resembles the ESCS phenotype. The ΔE8 mutant exhibits progressive retinal degeneration, as occurs in human RP patients. Interestingly, the mutant retinas show invaginations similar to fovea-like pits. Our mutants suggest a role of Nr2e3 as a cone-patterning regulator and provide valuable models for studying mechanisms of NR2E3-associated retinal dystrophies and evaluating potential therapies.Abstract FigureHighlights- Nr2e3 mouse models were generated by exon 8 deletion using CRISPR/Cas9 D10A nickase.- New Nr2e3 mRNA retaining intron 7 encodes a short protein expressed in adult retina.- Deletion of 9 aa of the NR2E3 dimerization domain causes enhanced S-cone syndrome.- Deletion of exon 8 produces a phenotype similar to Retinitis Pigmentosa in mouse.

scholarly journals Review Article. Role of Electrophysiological Methods in Diagnosis of Hereditary Retinal Dystrophies

2021 ◽  
Vol 25 (1) ◽  
pp. 73-86
Author(s):  
Elena Mermeklieva ◽  
Keyword(s):  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Low Frequency ◽  
Night Vision ◽  
Retinal Dystrophies ◽  
Golden Standard ◽  
And Function ◽  
Electrophysiological Methods ◽  
Hereditary Retinal Dystrophies

The aim of the study is to present the different electrophysiological methods (EF) for study the retinal function and to highlight their importance in the diagnosis of hereditary retinal dystrophies (HRDs). EF methods are objective methods including the different types of electroretinography (ERG) and electrooculography (EOG). They are “the golden standard” in the diagnosis of retinal dystrophies. EF are especially valuable in the initial stages of the diseases and in asymptomatic forms. They are also particularly important for monitoring the changes in dynamics, which is very important for the diseases prognosis. HRDs are a heterogeneous group of diseases with a relatively low frequency in the human population, characterized by involvement of different retinal layers, most often the complex retinal pigment epithelium-photoreceptors and causing severe visual impairment - loss of night vision, visual field, color vision and visual acuity in the initial stages and leading to progressive and severe loss of visual function by altering the retinal anatomy and function. By EF studies can evaluate the function of the retina in patients with these “rare eye diseases”. EF methods are most important in the diagnosis of HRDs. They are also important in the differential diagnosis between the different retinal dystrophies. A major challenge for the ophthalmologists is to identify the diseases in the early stages. There is an urgent need for more knowledge and practical use of these methods for accurate diagnosis which is a prerequisite for a proper therapy.

Role of dactinomycin in the improved survival of children with Wilms' tumor

JAMA ◽  
1966 ◽  
Vol 195 (12) ◽  
pp. 1005-1009 ◽  
Author(s):  
D. J. Fernbach
Keyword(s):  
Wilms Tumor
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