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 Monoclonal antibody against Human Bcl-2 (Clone Bcl-2/100). The antibodies are raised in Mouse and are from clone Bcl-2/100. This antibody is applicable in WB and IHC, IP
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Bcl-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Bcl-2 . This antibody is tested and proven to work in the following applications:
Description: A polyclonal antibody raised in Rabbit that recognizes and binds to Human Bcl-2 . This antibody is tested and proven to work in the following applications:
Description: A monoclonal antibody for detection of Bcl-2 from Human, Mouse, Rat. This Bcl-2 antibody is for WB, IF, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
Description: A monoclonal antibody for detection of Bcl-2 from Human, Mouse, Rat. This Bcl-2 antibody is for WB, IF, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
Description: A monoclonal antibody for detection of Bcl-2 from Human, Mouse, Rat. This Bcl-2 antibody is for WB, IF, IHC-P. It is affinity-purified from mouse ascites by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in mouse by using as an immunogen synthetic peptide
Immunogen information: Synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Applications tips:
Description: A polyclonal antibody for detection of Bcl-2 from Human, Monkey. This Bcl-2 antibody is for WB , IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Immunogen information: Synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Applications tips:
Description: A polyclonal antibody for detection of Bcl-2 from Human, Monkey. This Bcl-2 antibody is for WB , IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Immunogen information: Synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Applications tips:
Description: A polyclonal antibody for detection of Bcl-2 from Human, Monkey. This Bcl-2 antibody is for WB , IHC-P, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of S70
Immunogen information: Synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of T69
Applications tips:
Description: A polyclonal antibody for detection of Bcl-2 from Human, Mouse, Rat. This Bcl-2 antibody is for WB , IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of T69
Immunogen information: Synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of T69
Applications tips:
Description: A polyclonal antibody for detection of Bcl-2 from Human, Mouse, Rat. This Bcl-2 antibody is for WB , IHC-P, IF, ELISA. It is affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from human Bcl-2 around the non-phosphorylation site of T69
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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