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Leberjeva hereditarna optična nevropatija : pregled bolezni z analizo prisotnosti v Sloveniji = Leber’s hereditary optic neuropathy : a review and prevalence analysis in the Slovenian populationŠega, Rok ...Leberjeva hereditarna optična nevropatija (LHON) je redka dedna mitohondrijska bolezen, ki povzroča slepoto najpogo-steje pri mladih odraslih. Navadno se izrazi kot subakutna, neboleča izguba vida na ... eno oko, ki ji sledi poslabšanje vida drugega očesa v nekaj tednih do mesecih. Bolezen večinoma pušča trajne posledice, le pri nekaterih bolnikih lahko v red-kih primerih pride do delnega spontanega izboljšanja vida. Razmerje med moškimi in ženskimi bolniki se ocenjuje na 3 : 1. V zadnjih letih je z razvojem zdravilne učinkovine idebenone možno podporno farmakološko zdravljenje, ki lahko prispeva k delnemu izboljšanju vidne funkcije. Bolezen zaradi svoje redkosti velikokrat ostane ne- ali napačno diagnosticirana. V članku predstavljamo štiri klinične primere bolnikov, pri katerih se je po obsežnem in dolgotrajnem diagnosticiranju izka-zalo, da imajo LHON. Od leta 1996 se v Sloveniji vodi baza bolnikov z redkimi dednimi očesnimi boleznimi. Na tej podlagi je ocenjena prevalenca LHON 1/72.000. Ob sumu na bolezen so ključni družinska anamneza slabovidnosti po materini strani, genetsko testiranje in napotitev na obravnavo ter zdravljenje v terciarno ustanovo.Source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 91, št. 9/10, 2022, str. 398-411)Type of material - article, component part ; adult, seriousPublish date - 2022Language - slovenianCOBISS.SI-ID - 178657283
Author
Šega, Rok |
Burgar, Jan |
Fakin, Ana |
Petrović Pajić, Sanja |
Volk, Marija, dr. med. |
Glavač, Damjan |
Hawlina, Marko |
Jarc-Vidmar, Martina
Topics
mitohondrijske bolezni |
genetika |
slabovidnost |
mitochondrial diseases |
genetics |
amblyopia
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source: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 91, št. 9/10, 2022, str. 398-411)
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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DRS, in which the journal is indexed
Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Šega, Rok | ![]() |
Burgar, Jan | ![]() |
Fakin, Ana | 33340 |
Petrović Pajić, Sanja | ![]() |
Volk, Marija, dr. med. | 26331 |
Glavač, Damjan | 09275 |
Hawlina, Marko | 09154 |
Jarc-Vidmar, Martina | 16364 |
Source: Personal bibliographies
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