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The Pan African Medical Journal 2023
Topics: Humans; Cataract; Cataract Extraction
PubMed: 37426466
DOI: 10.11604/pamj.2023.45.16.39806 -
Journal Francais D'ophtalmologie Oct 2019
Topics: Cataract; Humans; Middle Aged
PubMed: 31227268
DOI: 10.1016/j.jfo.2019.03.024 -
BMC Cell Biology Jan 2017The lens is an avascular organ composed of an anterior epithelial cell layer and fiber cells that form the bulk of the organ. The lens expresses connexin43 (Cx43),... (Review)
Review
The lens is an avascular organ composed of an anterior epithelial cell layer and fiber cells that form the bulk of the organ. The lens expresses connexin43 (Cx43), connexin46 (Cx46) and connexin50 (Cx50). Epithelial Cx50 has critical roles in cell proliferation and differentiation, likely involving growth factor-dependent signaling pathways. Both Cx46 and Cx50 are crucial for lens transparency; mutations in their genes have been linked to congenital and age-related cataracts. Congenital cataract-associated connexin mutants can affect protein trafficking, stability and/or function, and the functional effects may differ between gap junction channels and hemichannels. Dominantly inherited cataracts may result from effects of the connexin mutant on its wild type isotype, the other co-expressed wild type connexin and/or its interaction with other cellular components.
Topics: Animals; Cataract; Connexins; Humans; Intercellular Signaling Peptides and Proteins; Lens, Crystalline; Mutation; Signal Transduction
PubMed: 28124626
DOI: 10.1186/s12860-016-0116-6 -
Experimental Eye Research Feb 2020Congenital cataracts, the most common cause of visual impairment and blindness in children worldwide, have diverse etiologies. According to statistics analysis, about... (Review)
Review
Congenital cataracts, the most common cause of visual impairment and blindness in children worldwide, have diverse etiologies. According to statistics analysis, about one quarter of congenital cataracts caused by genetic defects. Various mutations of more than one hundred genes have been identified in hereditary cataracts so far. In this review, we briefly summarize recent developments about the genetics, molecular mechanisms, and treatments of congenital cataracts. The studies of these pathogenic mutations and molecular genetics is making it possible for us to comprehend the underlying mechanisms of cataractogenesis and providing new insights into the preventive, diagnostic and therapeutic approaches of cataracts.
Topics: Cataract; Humans; Lens, Crystalline; Molecular Biology
PubMed: 31770519
DOI: 10.1016/j.exer.2019.107872 -
QJM : Monthly Journal of the... Sep 2019
Topics: Adult; Cataract; Humans; Lens Capsule, Crystalline; Male; Pedigree; Phacoemulsification; Treatment Outcome; Vision Disorders
PubMed: 30721999
DOI: 10.1093/qjmed/hcz038 -
Indian Journal of Ophthalmology Nov 2023
Topics: Humans; Infant, Newborn; Cataract; Eye; Iatrogenic Disease; Retinopathy of Prematurity; Gestational Age; Retrospective Studies; Laser Coagulation
PubMed: 37869997
DOI: 10.4103/IJO.IJO_2744_23 -
JAMA Ophthalmology Dec 2018
Topics: Cataract; Cataract Extraction; Contact Lenses; Female; Genetic Predisposition to Disease; Humans; Myopia; Pedigree; Rare Diseases; Risk Assessment; Young Adult
PubMed: 30543353
DOI: 10.1001/jamaophthalmol.2018.3150 -
Tidsskrift For Den Norske Laegeforening... Nov 2020Elevated serum ferritin levels are common findings in clinical practice, usually caused by inflammation, liver disease, high alcohol consumption or malignancy, although...
BACKGROUND
Elevated serum ferritin levels are common findings in clinical practice, usually caused by inflammation, liver disease, high alcohol consumption or malignancy, although it can occur in association with rare genetic conditions.
CASE PRESENTATION
We describe a male in his sixties with persistent hyperferritinaemia without associated iron overload and subsequent development of cataract. The patient himself suggested hyperferritinaemia-cataract syndrome as a diagnosis, which was subsequently confirmed with mutation analysis of the light chain ferritin (FTL) gene. Such mutations are inherited in an autosomal dominant pattern.
INTERPRETATION
Mutations in FTL are known to interfere with the balance between iron levels and ferritin production. When common causes of hyperferritinaemia are excluded, rare conditions should be considered in order to avoid unnecessary procedures and treatment. Genetic analyses are available for all clinicians and should be requested upon the right indications.
Topics: Cataract; Ferritins; Genetic Testing; Humans; Iron Metabolism Disorders; Male; Mutation; Pedigree
PubMed: 33172243
DOI: 10.4045/tidsskr.20.0255 -
Current Opinion in Ophthalmology Jan 2023To review most recent studies and clinical trials regarding pathogenesis, treatment, and prevention of inflammation after the cataract surgery. (Review)
Review
PURPOSE OF REVIEW
To review most recent studies and clinical trials regarding pathogenesis, treatment, and prevention of inflammation after the cataract surgery.
RECENT FINDINGS
FLACS gave opportunity to evaluate inflammatory cytokines in the aqueous humour right after the laser procedure, which led to acknowledging the inflammation pathogenesis during the phacoemulsification. Although there is still a lack of evidence, which would prove the long-term benefit of NSAIDs, they are indicated and effective when risk factors for PCME are present. PREMED studies showed that combination of NSAID and steroids after the surgery for healthy subjects is cost-effective. The triamcinolone injection together with topical steroids and NSAIDs for diabetic patients after the cataract surgery was the most cost-effective in preventing PCME according to the PREMED. Dropless cataract surgery is another emerging topic: dexamethasone implants and suspensions look promising as we await more clinical trials with drug-loaded IOLs.
SUMMARY
Inflammation after the cataract surgery can be prevented, and these methods are one of the most essential topics with growing phacoemulsification rate. Topical NSAIDs are cost-effective not only for patients with risk factors for PCME but also for healthy subjects. New dropless techniques are being successfully introduced in the clinical practice.
Topics: Humans; Cataract
PubMed: 36305352
DOI: 10.1097/ICU.0000000000000912 -
Developments in Ophthalmology 2016Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and... (Review)
Review
Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.
Topics: Cataract; Eye Diseases, Hereditary; Humans; Infant, Newborn
PubMed: 27043388
DOI: 10.1159/000442495