A framework for understanding the phenotypic features of CRX retinopathy is established.To do phenotype-genotype correlation analysis in two groups of patients with heterozygous mutation in a different location than the CRX gene, encoding the cone rod retrospective homeobox.Multicenter study.Twenty- one of 14 Japanese patients families with heterozygous record mutation.
Retrospective CRX analysis.Clinical data on CRX mutation, symptoms, the best corrected visual acuity (BCVA), visual field, fundus photography, fundus auto-fluorescence, optical coherence tomography, and Electroretinograms (ERGs) .Six CRX heterozygous mutations were identified in different subjects. Twelve patients from 9 families together p.R41W mutation and 1 patient had a mutation p.R43C, which both affect the homeobox domain of CRX.
These patients often featured adult-onset retinal dystrophy macular degeneration. In contrast, 5 patients with mutations downstream (p.S204fs, p.S213fs, p.G243X, and p.L299F) displayed retinal degeneration or macular degeneration with bone-spicule pigmentation. Three asymptomatic carriers with different mutations (p.R41W, p.S213fs, and p.G243X) is present in both groups. Almost all the patients and operators have electronegative ERG in response to the light flash under dark adaptation.
There is no cross-sectional relationship between age and BCVA of patients, despite the progressive reduction BCVA.Heterozygous mutations within or downstream of the homeobox domain in the CRX-related phenotypes related to the difference of the retina, which is confounded by the variable expressivity and electronegative ERGs. CRX mutations should be considered in patients with electronegative ERG with minimal or no changes in the macula. This article is protected by copyright. All rights reserved.
Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.
X-linked retinoschisis peripheral without macular involvement: a case series with genetic confirmation RS1.
Background: X-linked Juvenile Retinoschisis (JXLRS) is a hereditary retinopathy usually presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis without schisis.Materials and macular Methods: Retrospective case series of three patients with genotype RS1 JXLRS confirmed genetically identified.
Retinoschisis presence macula and / or peripheral assessed by optical coherence tomography (OCT), the width of the field fluorescein angiography, clinical ophthalmoscopy and fundus photography.Results color: The eyes of three patients with retinoschisis peripheral JXLRS not schisis or atrophic macular October ERG is available in one patient and showed no decrease in scotopic b-wave combined response.
Conclusions rod-cone: RS1 mutations can cause the macula-sparing JXLRS phenotype. JXLRS diagnosis should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of schisis macula.
Objective: To describe the phenotype and genotype in young women with Danon disease. Methods: Patients underwent eye examination including best corrected visual acuity (BCVA), fundus photography and fundus autofluorescence (FAF), full-field electroretinography (full-field ERG), multifocal ERG, optical coherence tomography (OCT) and SAP-Humphrey 30- 2 at the age of 20 and 25.
Description: A competitive ELISA for quantitative measurement of Canine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Canine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Canine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Rat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Rat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Rat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Porcine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Porcine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Porcine Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Goat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Goat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Goat Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Mouse Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Mouse Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Mouse Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Human Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Human Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Human Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A Monoclonal antibody against Human c-Myc Oncoprotein. The antibodies are raised in Mouse and are from clone 9E10.3. This antibody is applicable in IHC, IF, FC
Description: A competitive ELISA for quantitative measurement of Rabbit Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Rabbit Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Rabbit Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Monkey Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Monkey Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Monkey Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A Monoclonal antibody against Human c-Myc Oncoprotein. The antibodies are raised in Mouse and are from clone MYC275. This antibody is applicable in IHC, IF, FC
Description: A Monoclonal antibody against Human c-Myc Oncoprotein. The antibodies are raised in Mouse and are from clone SPM237. This antibody is applicable in IHC, IF, FC
Description: A Monoclonal antibody against Human c-Myc Oncoprotein. The antibodies are raised in Mouse and are from clone MYC909. This antibody is applicable in IHC, IF, FC
Human Oncoprotein Induced Transcript 3 (OIT3) CLIA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in samples from tissue homogenates or other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: A sandwich quantitative ELISA assay kit for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in samples from tissue homogenates or other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: A competitive ELISA for quantitative measurement of Guinea pig Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Guinea pig Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Description: A competitive ELISA for quantitative measurement of Guinea pig Oncoprotein Induced Transcript 3 in samples from blood, plasma, serum, cell culture supernatant and other biological fluids. This is a high quality ELISA kit developped for optimal performance with samples from the particular species.
Human oncoprotein induced transcript 3(OIT3)ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in Tissue homogenates and other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in Tissue homogenates and other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in Tissue homogenates and other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in Tissue homogenates and other biological fluids.
Human Oncoprotein Induced Transcript 3 (OIT3) ELISA Kit
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Oncoprotein Induced Transcript 3 (OIT3) in samples from Tissue homogenates and other biological fluids. with no significant corss-reactivity with analogues from other species.
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Electrooculography, fluorescein angiography (FA), indocyanine angiography and October angiography is performed only once. Genetic testing using a panel of Next-Generation Sequencing and protein expression LAMP2 immunohistochemical analysis performed in explanted hearts of patients, and cardiology and ophthalmology patient records were retrospectively reviewed.
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