35 results about "Congenital cataracts" patented technology

The invention aims to provide application of ABCA3 genes to preparing diagnosis products for detecting congenital cataract-microcornea syndrome (CCMC). The application has the advantages that novel application of the ABCA3 genes is provided, and accordingly an effective way is provided for genetic diagnosis of congenital CCMC diseases, prenatal gene screening and genetic counseling; as shown by application effects, SNP (single nucleotide polymorphism) sites and detection primers of the genes can be effectively used for quickly detecting ABCA3 gene mutation sites for clinical patients and villus or amniotic fluid of fetuses.

The invention aims to provide application of ABCA3 genes to preparing diagnosis products for detecting congenital cataract-microcornea syndrome (CCMC). The application has the advantages that novel application of the ABCA3 genes is provided, and accordingly an effective way is provided for genetic diagnosis of congenital CCMC diseases, prenatal gene screening and genetic counseling; as shown by application effects, SNP (single nucleotide polymorphism) sites and detection primers of the genes can be effectively used for quickly detecting ABCA3 gene mutation sites for clinical patients and villus or amniotic fluid of fetuses.

The present invention provides a screening method and device for the risk of congenital cataract, comprising: obtaining samples to be classified; classifying the samples to be classified by machine learning methods to obtain classification prediction results; determining the screening results according to the classification prediction results; wherein, The screening results include normal and congenital cataracts, which is non-invasive, low-cost, and has high detection accuracy.

The invention discloses an application of imatinib mesylate in preparing drugs used for building congenital cataract animal model. Applying the imatinib mesylate to build the congenital cataract animal model has the advantages of simple method, short period, low cost, high film forming rate, good reproduction quality and the like. The obtained animal model can better simulate the congenital cataract of baby lens caused by receptor signal access barrier of platelet-derived growth factors due to various reasons during the growing process before or after birth, and is applicable to studies on various aspects of the nosogenesis of the congenital cataract, therapeutic drug screening, mechanism of action, and the like.

The invention aims at providing application of an AQP5 gene in preparation and detection of a congenital cataract diagnosis product. The invention provides new uses of the AQP5 gene, and thereby provides an approach for effectively carrying out congenital cataract disease gene diagnosis, prenatal gene screening and genetic counseling, and the application effect shows that the SNP (single nucleotide polymorphism) locus and detection primers of the gene provided by the invention can be effectively used for patients in clinic and fetus villus or amniotic fluid so as to carry out rapid detection of an AQP5 gene mutation locus.

The invention aims at providing application of a CRYBA4 gene in preparing and detecting a congenital cataract-microcornea syndrome diagnosing product. The invention provides a novel purpose of the CRYBA4 gene and further provides an effective way of carrying out congenital CCMC disease gene diagnosis, antenatal gene screening and genetic counseling. An application effect shows that a gene SNP locus and a detecting primer provided by the invention can be effectively applied to quick detection of a CRYBA4 gene mutation site on a clinic patient and fetus villus or amniotic fluid.

The present invention mainly relates to the technical field of ophthalmic intraocular lens, and more specifically relates to a comprehensive intraocular lens implant for congenital cataract, including an adjustable intracapsular ring and an ordinary intraocular lens assembled on the adjustable intracapsular ring, The adjustable intracapsular ring includes a ring body and a boss for assembling an intraocular lens, the boss is arranged on the inner surface of the ring body, and the ring body is a closed-loop structure or a C-shaped open-loop structure. The adjustable intracapsular ring of the present invention is a specially designed intracapsular ring. The ring has a certain thickness, shape and elasticity, which can maintain the contour and elasticity of the capsular bag in children after removing the natural lens, and prevent the child from losing the natural lens due to the absence of the natural lens. resulting in shrinkage of the capsular bag. The intracapsular ring can not only produce corresponding size changes with the growth of the capsular bag in children, prevent the migration of epithelial cells, but also can be used to fix the intraocular lens implanted in the later stage, providing a good foundation for the second implantation of the intraocular lens in the capsular bag. convenient.

The invention discloses a mutant EPHA2 gene, which has a sequence shown as SEQ ID NO:1. The invention also discloses a polypeptide coded by mutant EPHA2 gene, use of the mutant EPHA2 gene and / or its coded protein in early screening, diagnosis of congenital cataract and / or preparation of drugs for treatment of congenital cataract, a method for screening of congenital cataract biological samples, a system for screening of congenital cataract biological samples and a kit for screening of congenital cataract biological samples.