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Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12710/22216
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dc.contributor.authorLichii, Ana-Maria-
dc.contributor.authorRotaru, Ludmila-
dc.date.accessioned2022-11-08T11:17:24Z-
dc.date.available2022-11-08T11:17:24Z-
dc.date.issued2022-
dc.identifier.citationLICHII, Ana-Maria, ROTARU, Ludmila. Primary congenital glaucoma — molecular mechanisms — genetics: [poster]. In: Conferinţa ştiinţifică anuală "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță", 19-21 octombrie 2022: culegere de postere electronice. 2022, p. 17.en_US
dc.identifier.urihttps://conferinta.usmf.md/wp-content/uploads/culegere_de_postere_2022.pdf-
dc.identifier.urihttp://repository.usmf.md/handle/20.500.12710/22216-
dc.description.abstractIntroduction. Primary congenital glaucoma (GCP) is an eye condition caused by the abnormal development of aqueous humor drainage structures, characterized by increased intraocular pressure, enlargement of the eyeball. Material and methods. This study was based on the synthesis and analysis of literature from open access databases: Pubmed, Scopus; GoogleSchoolar, Hinari. corneal edema and changes of the optic nerve. Results. Genetic mapping of affected gene families has identified several chromosomal loci that cause primary congenital glaucoma: GLC3A (chromosome 2p22), GLC3B (chromosome 1p36.2 􀀟� p36.1), GLC3C (chromosome 14q24.3), GLC3D (chromosome 14q24.2-q24.3) and GLC3E (chromosome 9p21.2). Mutations have also been identified in the LTBP2 (14q24.3) genes encoding the latent 􀀟� transforming growth factor 2 beta 􀀟� binding and MYOC (14q23 􀀟� q24) encoding the myocillin protein for role in cytoskeleton organization and cell adhesion, TEK (tyrosine kinase receptor ), COL1A1. Mutations in the CYP1B1 gene (missens, insertions and/or,del) encoding the P450 protein with a role in the metabolism of endogenous molecules necessary for ocular development leading to autosomal recessive GCP have been shown to be a strong risk factor. Conclusions. Primary congenital glaucoma is a genetic disease caused by mutations in different genes (GLC3A, GLC3B, GLC3C, GLC3D, GLC3E, LTBP2, MYOC, TEK, COL1A1, CYP1B1) and population screening through genetic testing can reduce the incidence of the disease and can be helpful to clinicians for a personalized approach to treatment.en_US
dc.language.isoenen_US
dc.publisherUniversitatea de Stat de Medicină şi Farmacie "Nicolae Testemiţanu" din Republica Moldovaen_US
dc.relation.ispartofConferinţa ştiinţifică anuală "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță", 2022en_US
dc.subjectgenesen_US
dc.subjectprimary congenital glaucomaen_US
dc.subjectchromosomeen_US
dc.subjectmutationen_US
dc.titlePrimary congenital glaucoma — molecular mechanisms — geneticsen_US
dc.typeOtheren_US
Appears in Collections:Conferinţa ştiinţifică anuală "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță", 19-21 octombrie, 2022: Culegere de postere

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