Search results for "Electroretinography"
showing 10 items of 58 documents
Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness
2016
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert–Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SL…
Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases.
2018
Purpose The aim of the present study was to identify candidate genes for mediating daily adjustment of vision. Methods Genes important for vision and genetically associated with severe retinal diseases were tested for 24-hour rhythms in transcript levels in neuronal retina, microdissected photoreceptors, photoreceptor-related pinealocytes, and retinal pigment epithelium-choroid (RPE-choroid) complex by using quantitative PCR. Results Photoreceptors of wildtype mice display circadian clock-dependent regulation of visual arrestins (Arr1, Arr4) and the visual cycle gene Rdh12, whereas cells of the RPE-choroid exhibit light-dependent regulation of the visual cycle key genes Lrat, Rpe65, and Rdh…
The Small Heat Shock Protein α-Crystallin B Shows Neuroprotective Properties in a Glaucoma Animal Model
2017
Glaucoma is a neurodegenerative disease that leads to irreversible retinal ganglion cell (RGC) loss and is one of the main causes of blindness worldwide. The pathogenesis of glaucoma remains unclear, and novel approaches for neuroprotective treatments are urgently needed. Previous studies have revealed significant down-regulation of α-crystallin B as an initial reaction to elevated intraocular pressure (IOP), followed by a clear but delayed up-regulation, suggesting that this small heat-shock protein plays a pathophysiological role in the disease. This study analyzed the neuroprotective effect of α-crystallin B in an experimental animal model of glaucoma. Significant IOP elevation induced b…
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice
2019
Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions. Methods Longitudinal acquisition of electroretinograms, optical coherence tomography scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 knockout mice. Gene and protein expression analysis in vivo and in vitro. Results Complete loss of BBS5, BBS6, or BBS8 leads to different rates of reti…
Usherin defects lead to early-onset retinal dysfunction in zebrafish
2018
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2a(rmc1): c.2337_2342delinsAC; p.Cys780GlnfsTer32 and ush2a(b1245): c.15520_…
Nutraceutical Supplementation Ameliorates Visual Function, Retinal Degeneration, and Redox Status in rd10 Mice
2021
Background: Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of photoreceptor cells. Ocular redox status is altered in RP suggesting oxidative stress could contribute to their progression. In this study, we investigated the effect of a mixture of nutraceuticals with antioxidant properties (NUT) on retinal degeneration in rd10 mice, a model of RP. Methods: NUT was orally administered to rd10 mice from postnatal day (PD) 9 to PD18. At PD18 retinal function and morphology were examined by electroretinography (ERG) and histology including TUNEL assay, immunolabeling of microglia, Müller cells, and poly ADP ribose polymers. Retinal r…
Tyro3 Contributes to Retinal Ganglion Cell Function, Survival and Dendritic Density in the Mouse Retina
2020
Retinal ganglion cells (RGCs) are the only output neurons of the vertebrate retina, integrating signals from other retinal neurons and transmitting information to the visual centers of the brain. The death of RGCs is a common outcome in many optic neuropathies, such as glaucoma, demyelinating optic neuritis and ischemic optic neuropathy, resulting in visual defects and blindness. There are currently no therapies in clinical use which can prevent RGC death in optic neuropathies; therefore, the identification of new targets for supporting RGC survival is crucial in the development of novel treatments for eye diseases. In this study we identify that the receptor tyrosine kinase, Tyro3, is crit…
A comparison among different techniques for human ERG signals processing and classification
2014
A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…
Clinical patterns and electrophysiological findings in retinal pigment epithelium diseases. Does a correlation exist?
1986
At present it is difficult to distinguish those human chorioretinal diseases in which the retinal pigment epithelium (RPE) is the primary site of dysfunction. This difficulty is caused by several factors such as scarcity of biochemical and histological information and a lack of correlation of basic science information available with the clinical body of knowledge. In the present study we examined 134 eyes at early or late stages of hereditary diseases involving the RPE. We tried to distinguish primary RPE involvement by using standard ERG (a- and b-wave) and EOG testing. We conclude that in general primary RPE damage can be better assessed by current electrophysiology in those diseases whic…
Methodological Aspects of the Application of the Naka-Rushton Equation to Clinical Electroretinogram
1993
The nonlinear relation between stimulus intensity and response amplitude of the electroretinogram (ERG) scotopic b wave can be described by a curve based on the Naka-Rushton (NR) equation. Up to now, the NR equation has been used to assess the features of the normal and pathological ERG, but the best approach for a correct evaluation of the parameters is still debatable. The parameters are thought to be related to the different conditions of retinal activities. The method is well known in experimental laboratories but is quite unusual at the clinical level. In the present paper the derivative analysis of the NR function is proposed as an easier approach to understand the variations of the N…