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Stargardtova bolest - nasledna juvenilna degeneracije makule
Stargardt’s disease
dc.contributor | Matejić-Đuričić, Zorica | |
dc.creator | Maksić, Jasmina | |
dc.creator | Ninković, Dragan | |
dc.creator | Mitrović, Predrag | |
dc.creator | Milosavljević, Mirjana | |
dc.creator | Mitrović, Miodrag | |
dc.date.accessioned | 2022-04-27T11:53:03Z | |
dc.date.available | 2022-04-27T11:53:03Z | |
dc.date.issued | 2008 | |
dc.identifier.isbn | 978-86-80113-71-5 | |
dc.identifier.uri | http://rfasper.fasper.bg.ac.rs/handle/123456789/4443 | |
dc.description.abstract | Stargardtova bolest (STGD) je jedan od najčešćih oblika degeneracije makule u detinjstvu. Bolest je sporo progresivna i vodi teškom obliku slabovidosti (legalno slepilo). STGD se najčešće nasleđuje autozomno recesivno (AR), a mutacija ABCA 4 gena na hromozomu 1 je odgovorna za nastanak bolesti. Zbog mutacije gena onemogućen je transport materija do i od fotoreceptorskih ćelija. Posledično, nagomilava se lipofuscin u pigmentnom epitelu retine koji propada, i zajedno sa prisutnim A2E toksinom u fotoreceptorskim ćelijama dovodi do oštećenja i atrofije makule. Ove promene rezultiraju gubitkom centralnog vida. Kliničku sliku karakteriše gubitak centralne vidne oštrine, fotofobija, produžena adaptacija sa svetla na tamu kao i poremećaj kolornog vida. Sa progresijom promena u makuli javljaju se slepa polja (skotomi) u centralnom viđenju do praktično gubitka centralnog vida. Dijagnoza STGD se postavlja kliničkim pregledom (oftalmoskopija), i uz pomoć fluoresceinske angiografije (FA), elektroretinografije (ERG), elektrookulografije (EOG) i dr. Autori ilustruju pojedine stadijume bolesti sopstvenim kolor i angiofotografijama. Terapija STGD za sada nije moguća. Bolest je sporo progresivna i oboleloj deci treba omogućiti, stvaranjem potrebnih uslova, da nastave obrazovanje u školi koju su do tada pohađala, koliko god je to moguće. Na ovaj način bi se deci sa STGD pomoglo da vremenom prihvate svoju bolest. Profesionalna orijentacija zauzima značajno mesto u njihovom životu. Osobama sa porodičnim opterećenjem za STGD preporučuje se genetsko savetovanje pre zasnivanja porodice. | sr |
dc.description.abstract | Stargardt’s disease is one of the most frequent forms of childhood macular degeneration. The disease is slowly progressive leading to severe amblyopia (legal blindness). Stargardt’s disease is almost always inherited as autosomal recessive trait, with the mutation of ABCA4 gene on chromosome 1 being responsible. The consequence is disabled transport to and from retinal photoreceptor cells. Lipofuscin, deposited in retinal pigment epithelium, results in damaged RPE and macular atrophy. Those changes bring on loss of central vision. Clinical picture is characterized by decreased visual acuity, photophobia and impaired adaptation to darkness. As macular changes progress visual fields show blind spots up to loss of central vision. Diagnostic methods used are ophthalmoscopy, fluorescein angiography, electroretinography, electrooculography etc. Authors illustrate certain varieties of the disease with own photos and angiograms. The therapy for Stargardt’s disease is not possible at the moment. The disease is slowly progressive and therefore the affected children should be allowed to continue education in regular schools as long as possible. That would allow a child to accept the disease with the time. Therefore occupational orientation is very important. Those with positive family history of Stargardt’s disease should seek genetic counseling. | sr |
dc.language.iso | sr | sr |
dc.publisher | Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation | sr |
dc.rights | openAccess | sr |
dc.rights.uri | https://creativecommons.org/licenses/by-sa/4.0/ | |
dc.source | Zbornik radova - „U susret inkluziji – dileme u teoriji i praksi“,Zlatibor,2008 | sr |
dc.subject | Stargardtova bolest | sr |
dc.subject | Makularna degeneracija | sr |
dc.subject | mutacija ABCA4 gena | sr |
dc.subject | Stargardt’s disease | sr |
dc.subject | Macular degeneration | sr |
dc.subject | ABCA4 mutations gene | sr |
dc.title | Stargardtova bolest - nasledna juvenilna degeneracije makule | sr |
dc.title | Stargardt’s disease | sr |
dc.type | conferenceObject | sr |
dc.rights.license | BY-SA | sr |
dc.citation.epage | 486 | |
dc.citation.spage | 481 | |
dc.identifier.fulltext | http://rfasper.fasper.bg.ac.rs/bitstream/id/7460/Untitled36.pdf | |
dc.identifier.rcub | https://hdl.handle.net/21.15107/rcub_rfasper_4443 | |
dc.type.version | publishedVersion | sr |