geographic atrophy secondary to age-related macular degeneration (GA) is considered one unit. This study aims to determine whether there is a subgroup of GA that can be defined by the genotype and phenotype.
Retrospective analysis of cross-sectional data.Individuals (196 eyes of 196 patients) 50 years or older with a GA of database.Participants EYE-RISK assessed for the presence of of each of the following features on a color fundus fundus photography: large soft drusen, reticular pseudodrusen (RPD), drusen refractile, hyperpigmentation, atrophy location (foveal vs. extrafoveal) and multifocal lesions.
Genotype thirty-three single nucleotide polymorphisms that were previously assigned to complement, lipid metabolism or extracellular matrix (ECM) pathway, and ARMS2, are also included, and the genetic risk score (GRS) for each of the three lines is calculated. hierarchical cluster analysis is used to determine a subgroup of participants defined by this feature. Discriminatory ability of the genotype, phenotype, or both for each subgroup defined by 10-fold cross-validated in the area under the curve (cvAUC) and subgroup membership agreement between predicted and actual assessed plots.Identification calibration and characterization GA subgroups based on their phenotype and genotype .Cluster analysis identified three subgroups of GA.
Subgroup 1 characterized by high complementary GRS, often associated with large soft drusen and foveal atrophy; subgroup 2 generally indicates a low GRS, foveal atrophy and some drusen (all types); and subgroup 3 ARMS2 presented high and ECM GRS, RPD and atrophy extrafoveal. There is a high discriminating ability between subgroups for genotype (cvAUC≥0.94) and simple to phenotype (cvAUC <0.65), with both calibration.We identified three distinct subgroups GA mostly by their genotype. Atrophy of the location and type of drusen is the most relevant phenotypic features.
Genotype and phenotype-based subgroups in geographic atrophy secondary to age-related macular degeneration. The EYE-RISK Consortium.
CRB1 retinal degeneration associated with new mutations.
To describe a new genetic mutations and genes not previously reported in CRB1 in patients with retinal dystrophy. To improve understanding of the genotype-phenotype-related retinal degenerative diseases CRB1 and describe the patient’s response to therapy.Patient evaluated for progressive loss of central vision and peripheral. Fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), and eye-coherence tomography (OCT) used in the evaluation.
Genetic screening is done to explore the underlying mutation. Genetics reveals previously reported, pathogenic variants in genes CRB1 (c.2842 + 5G> A), and a new mutation (c.4014T> A) which is clinically uncertain because of the lack of conclusive evidence. This case is unique phenotype CME is refractory to therapy, while CME in CRB1 related maculopathy usually responds well to study the phenotypic treatment.
Immunogen information: Synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Applications tips:
Description: A polyclonal antibody for detection of CD16 from Human. This CD16 antibody is for IHC-P, ELISA. It is affinity-purified from rabbit serum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Immunogen information: Synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Applications tips:
Description: A polyclonal antibody for detection of CD16 from Human. This CD16 antibody is for IHC-P, ELISA. It is affinity-purified from rabbit serum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Immunogen information: Synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Applications tips:
Description: A polyclonal antibody for detection of CD16 from Human. This CD16 antibody is for IHC-P, ELISA. It is affinity-purified from rabbit serum by affinity-chromatography using the specific immunogenand is unconjugated. The antibody is produced in rabbit by using as an immunogen synthesized peptide derived from part region of human CD16 protein at amino acid sequence of 100-150
Description: A monoclonal antibody for detection of CD16 from Human. This CD16 antibody is for WB, 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 CD16 from Human. This CD16 antibody is for WB, 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 CD16 from Human. This CD16 antibody is for WB, 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: CD16 is a protein encoded by the FCGR3A gene which is approximately 29 kDa. CD16 is localised to the cell membrane. It is involved in the immune response role of DAP12 receptors in NK cells, regulation of actin dynamics for phagocytic cup formation and the role of phospholipids in phagocytosis. It is a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from circulation, as well as other antibody-dependent responses. CD16 is expressed on natural killer cells, macrophages, a subpopulation of T-cells, immature thymocytes and placental trophoblasts. Mutations in the FCGR3A gene may result in an immunodeficiency. STJ96992 was developed from clone Q32 and was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen. The antibody detects endogenous CD16 protein.
This add breadth of understanding of genetic analysis in retinal degenerative conditions associated CRB1. The newly described variant mutation CRB1 c.4014T> A may predict a poor prognosis for CME responsive to therapy. Genetic testing in the event of unexplained CME might be useful to identify the underlying CRB1 variants and revealed the genotype-phenotype correlations, which can alter the treatment plan and prognosis.
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