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CataractCrystallinsCataract Extractiongamma-CrystallinsLens, Crystallinebeta-Crystallin B Chainbeta-Crystallin A ChainAphakia, Postcataractalpha-Crystallin A Chainbeta-Crystallinsalpha-CrystallinsGenes, DominantLens Nucleus, CrystallinePedigreeLens Implantation, IntraocularEye Proteinsalpha-Crystallin B ChainOculocerebrorenal SyndromePseudophakiaVisual AcuityDNA Mutational AnalysisConnexinsLod ScoreMicrophthalmosAniridiaGenetic LinkageEye AbnormalitiesMutation, MissenseI Blood-Group SystemAsian Continental Ancestry GroupMutationGenes, RecessiveContact LensesHereditary Central Nervous System Demyelinating DiseasesMolecular Sequence DataLenses, IntraocularProto-Oncogene Proteins c-mafLens Cortex, CrystallineNystagmus, PathologicCapsulorhexisPhacoemulsificationLens DiseasesAquaporinsCorneaConsanguinityAmino Acid SequenceExonsSensory DeprivationStrabismusBlindnessBase SequenceFamilyAnterior Eye SegmentOctopodiformesCodon, NonsenseHaplotypesTooth AbnormalitiesMutant ProteinsGlaucomaPersistent Hyperplastic Primary VitreousIntermediate Filament ProteinsEye DiseasesPakistanOptic AtrophyAgingPhenotypeGenetic HeterogeneityLens Capsule, CrystallineRenal Tubular Transport, Inborn ErrorsIndiaElectrophoresis, Gel, Two-DimensionalRenal AminoaciduriasTunisiaAmblyopiaChromosomes, Human, Pair 3Sequence AlignmentInfant, NewbornBufonidaeSequence Analysis, DNASyndromeKynurenineSolubilityGenetic Diseases, X-LinkedFrameshift MutationChromosome MappingPolymerase Chain ReactionAbnormalities, MultipleCattleScattering, RadiationTitrimetryMicrosatellite RepeatsHeterozygoteEye Infections, ViralIntellectual DisabilityDeaminationRNA Splice SitesRefractometryChromosomes, Human, Pair 1IntronsMolecular Chaperones

MutationsIntraocular lensAssociated with autosomal dominantPathogenesis of cataractOpacitiesGamma crystallinsCorticalGenesGenePosterior subcapsularChildhoodInvolved in the pathogenesisFilamentProteinsCRYBA4NuclearPedigreeMutationExtractionSubunitAcidicMotifsCRYSTALLINEGeneticsPhacoemulsificationCapsulePrevalenceIndiaInfantileLensesMorphologyOcularIncidenceSurgeryEnzymeAlphaSubstantialSufferProcedureExpressionBetaTypesTypePresent at birthBirthPatients

Mutations9

• To identify mutations in a Chinese family with congenital cataract and microcornea. (molvis.org)
• Our data highlight the extreme genetic heterogeneity of dominant cataract as the eleven causative/likely causative mutations affected nine different genes, and the majority of mutant alleles were novel. (nih.gov)
• Furthermore, these data suggest that less than half of dominant cataract can be explained by mutations in currently known genes. (nih.gov)
• To elucidate the mechanisms by which connexin mutations lead to cataracts, we have been studying mouse models that mimic the mutations identified in human pedigrees with inherited congenital cataracts. (molvis.org)
• The remaining inherited congenital cataracts are due to mutations in a large and growing number of genes. (wustl.edu)
• Such circumstances in muscle could explain the late onset characteristic of the myopathies caused by mutations in alphaB-crystallin. (worktribe.com)
• Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. (oftalmic.ru)
• This seems to be a clinically heterogeneous group of lens opacities all due to mutations in the crystallin gene CRYAA . (arizona.edu)
• Overlap exists with Congenital Muscular Dystrophy (CMD) as several gene mutations can cause both a LGMD and CMD phenotype. (medscape.com)

Intraocular lens3

• PURPOSE: To compare anterior capsule contraction (ACC) after cataract surgery with implantation of intraocular lens (IOLs) of different materials and designs. (bvsalud.org)
• The intraocular lens is replaced by performing the cataract surgery. (surgerytoursindia.com)
• Presence of an intraocular lens after cataract extraction. (lookformedical.com)

Associated with autosomal dominant2

• Variants in CRYBB1 are associated with autosomal dominant congenital cataract. (wikipedia.org)
• Su D, Guo Y, Li Q, Guan L, Zhu S, Ma X. A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family . (arizona.edu)

Pathogenesis of cataract1

• It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. (molvis.org)

Opacities2

• however, a posterior polar cataract is distinct from other forms of congenital lens opacities. (medscape.com)
• However, these methods suffer a large performance drop in cortical cataract grading due to the more complex cortical opacities and uncertain data. (bvsalud.org)

Gamma crystallins3

• beta and gamma crystallins are also considered as a superfamily. (wikipedia.org)
• Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
• Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (lookformedical.com)

Cortical2

• Cortical cataract, a common type of cataract, is particularly difficult to be diagnosed automatically due to the complex features of the lesions. (bvsalud.org)
• In this paper, we propose a novel Transformer-based Knowledge Distillation Network, called TKD-Net, for cortical cataract grading. (bvsalud.org)

Genes4

• Since the specific cataract phenotype is not sufficient to predict which gene is mutated, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a disease-causing mutation in probands from 23 pedigrees affected with familial dominant cataract. (nih.gov)
• Examination of crystallin genes not yet linked to human disease identified a novel cataract gene, CRYBA2, a member of the βγ-crystallin superfamily. (nih.gov)
• Most inherited congenital cataracts are accounted for by mutation in genes encoding abundant cytoplasmic or membrane proteins of lens fiber cells. (wustl.edu)
• Identification of these genes is providing insight into the processes required for normal lens development and suggesting candidates for genes that may contribute to inherited cataracts later in life. (wustl.edu)

Gene2

• Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. (wikipedia.org)
• All six exons of crystallin, beta A4 gene ( CRYBA4 ) were amplified by PCR methods and direct sequencing. (molvis.org)

Posterior subcapsular2

• Posterior polar cataract, a distinctive subtype of lens opacity, presents as an area of degenerative and malformed lens fibers that form an opacity in the central posterior subcapsular area of the lens. (medscape.com)
• The surgical significance of a posterior subcapsular cataract is an association with and an adhesion of the lens opacity to the posterior capsule immediately subjacent to it. (medscape.com)

Childhood1

• According to the etiology, cataract is classified as age-related cataract (ARC), childhood cataract, traumatic cataract, cataract associated with systemic disease, complicated cataract, and drug-induced cataract, among which ARC was the most common type ( Richard, 2019 ). (techscience.com)

Involved in the pathogenesis1

• The aim of the present study is to determine whether histone H3, αA-crystallin (CRYAA), β-galactosidase (GLB1), and p53 are involved in the pathogenesis of ARC. (techscience.com)

Filament2

• Our data also clearly demonstrate the beneficial role of wild-type alphaB-crystallin in the formation of desmin filament networks. (worktribe.com)
• Collectively, our data suggest that R120G alphaB-crystallin directly promotes desmin filament aggregation, although this gain of a function can be repressed by some cell situations. (worktribe.com)

Proteins3

• Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. (wikipedia.org)
• Alpha-crystallins also act as molecular chaperones that bind to denatured proteins, keep them in solution and thereby maintain the translucency of the lens. (lookformedical.com)
• The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)

CRYBA41

• We report a novel missense mutation in CRYBA4 after analyzing a Chinese family with congenital cataract and microcornea. (molvis.org)

Nuclear3

• According to his medical records, this patient has congenital nuclear cataract with microcornea. (molvis.org)
• Moreover, deletion of p62 did not change the levels of crystallins, histone H3, the mitochondrial import receptor subunit TOM20 homolog, or the abundance of nuclei and nuclear fragments in the lenses of homozygous Cx50D47A mice. (molvis.org)
• Exposure to ionizing radiation : The continuous exposure to cosmic radiation leads to the development of nuclear cataract especially in airline pilots. (surgerytoursindia.com)

Pedigree2

• Two patients (both male) in this pedigree had congenital cataract and microcornea , and had shown symptoms of vision decrease before two years old. (molvis.org)
• Val50Met) mutation in CRYBA2 cosegregated with disease phenotype in a four-generation pedigree with autosomal dominant congenital cataracts with incomplete penetrance. (nih.gov)

Mutation2

• The R120G mutation in alphaB-crystallin causes desmin-related myopathy. (worktribe.com)
• Here, we show that the mutation alters the in vitro binding characteristics of alphaB-crystallin for desmin filaments. (worktribe.com)

Extraction7

• Duke-Elder discusses the historical methods of congenital cataract extraction used prior to the modern introduction of phacofluidics. (medscape.com)
• [ 1 ] He also mentions discission, linear extraction (which would now be described as irrigation/aspiration), as well as intracapsular cataract extraction. (medscape.com)
• Several surgical solutions and approaches have been proposed, but a technique for uncomplicated and successful posterior polar cataract extraction continues to remain challenging and problematic. (medscape.com)
• Cataract extraction. (lookformedical.com)
• Insertion of an artificial lens to replace the natural CRYSTALLINE LENS after CATARACT EXTRACTION or to supplement the natural lens which is left in place. (lookformedical.com)
• Absence of the crystalline lens resulting from cataract extraction. (lookformedical.com)
• It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (lookformedical.com)

Subunit1

• The basic subunit of beta-crystallins. (lookformedical.com)

Acidic2

• Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). (wikipedia.org)
• Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)

Motifs1

• Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. (wikipedia.org)

CRYSTALLINE3

• A subclass of crystallins that found in the lens (LENS, CRYSTALLINE) of VERTEBRATES. (lookformedical.com)
• A class of crystallins that provides refractive power and translucency to the lens (LENS, CRYSTALLINE) in VERTEBRATES. (lookformedical.com)
• A procedure for removal of the crystalline lens in cataract surgery in which an anterior capsulectomy is performed by means of a needle inserted through a small incision at the temporal limbus, allowing the lens contents to fall through the dilated pupil into the anterior chamber where they are broken up by the use of ultrasound and aspirated out of the eye through the incision. (lookformedical.com)

Genetics1

• Hejtmancik, J. F. / Genetics of congenital cataract . (wustl.edu)

Phacoemulsification1

• The making of a continuous circular tear in the anterior capsule during cataract surgery in order to allow expression or phacoemulsification of the nucleus of the lens. (lookformedical.com)

Capsule3

• As such, posterior polar cataract removal is a challenge to the surgeon because of its adherence to or the associated weakness of the posterior capsule. (medscape.com)
• Posterior polar cataract surgery is associated with an increased incidence of rupture of the posterior capsule. (medscape.com)
• The goal during posterior polar cataract surgery is to remove the opacity without rupturing the posterior capsule. (medscape.com)

Prevalence1

• In the Framingham Eye Study, little prevalence data for posterior polar cataracts are presented. (medscape.com)

India1

• The low cost of cataract surgery in India attracts many patients from all over the world. (surgerytoursindia.com)

Infantile1

• These are referred to as infantile, developmental and juvenile cataracts. (surgerytoursindia.com)

Lenses3

• We investigated whether levels of p62 and its phosphorylation were altered in the lenses of Cx50D47A mice, which express a mutant of connexin50 (Cx50) that leads to cataracts and impaired lens differentiation. (molvis.org)
• However, deletion of p62 did not affect the sizes of the lenses or the severity of their cataracts in homozygous Cx50D47A mice. (molvis.org)
• Although homozygous Cx50D47A lenses have increased levels of p62, a specific reduction in p62 phosphorylation at T269/S272, and a specific increase in p62 phosphorylation at S349, this protein is not a critical determinant of the severity of the abnormalities of these lenses (reduced growth or differentiation and cataracts). (molvis.org)

Morphology2

• The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (lookformedical.com)
• The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology. (jefferson.edu)

Ocular1

• This review focuses on the effects of oxidative stress and the role of a particular antioxidant system-the Keap1-Nrf2-ARE pathway-on ocular diseases, specifically age-related macular degeneration, cataracts, diabetic retinopathy, and glaucoma. (hindawi.com)

Incidence2

• The incidence of capsular tears in this subtype of cataract surgery can approach an unacceptably high percentage. (medscape.com)
• in fact, little is published on the specific incidence of posterior polar cataracts. (medscape.com)

Surgery1

• Although visual function can be restored by surgery for cataracts, there are currently no effective drugs to prevent or treat cataract. (techscience.com)

Enzyme1

• Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. (wikipedia.org)

Alpha1

• One of the subunits of alpha-crystallins. (lookformedical.com)

Substantial1

• Inherited cataracts make up a substantial fraction of the cataracts present at birth. (wustl.edu)

Suffer1

• Worldwide, 20 million children under the age of 16 suffer from cataract, and among these, 200,000 (10%) are severely visually impaired or blind. (molvis.org)

Procedure1

• This minimally invasive cataract procedure starts by making the eye numb by giving anesthesia. (surgerytoursindia.com)

Expression1

• Expression studies detected cryba2 transcripts during early lens development in zebrafish, supporting its role in congenital disease. (nih.gov)

Beta3

• Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. (wikipedia.org)
• Overview of all the structural information available in the PDB for UniProt: P53674 (Beta-crystallin B1) at the PDBe-KB. (wikipedia.org)
• crystallin, beta B3. (oftalmic.ru)

Types1

• p62 levels are elevated in several types of cataracts. (molvis.org)

Type3

• Further, no standardized subtype specific study on this type of cataract has been conducted. (medscape.com)
• This type of cataract usually occurs either when a baby is born or after the birth. (surgerytoursindia.com)
• This is the most common type of cataract and usually occurs in later stages of life. (surgerytoursindia.com)

Present at birth1

• The cataracts are often present at birth. (arizona.edu)

Birth1

• Congenital cataract can be defined as lens opacification presenting at birth or developing shortly thereafter. (molvis.org)

Patients1

• Age-relate cataract (ARC) is a disease of the eyes with no effective drugs to prevent or treat patients. (techscience.com)