Leberova hereditarna optikoneuropatija - Prikaz slučaja

LHON is characterized by bilateral asynchronous visual loss in young adults. This type of neuropathy is related to mitochondrial DNA mutation and therefore is maternally inherited. Males are predominantly affected but they do not transmit the disease to their offspring. Clinical picture - although characteristic - is not impressive. At the beginning of the disease, there is a large discrepancy between the symptoms and signs. In contrast to marked central visual loss, the only visible sign is retinal teleangiectatic microangiopathy in the peripapillary region. Fluorescein angiography shows intact capillary network without leakage disproving its inflammatory nature.Leberova hereditarna optikoneuropatija je karakterizirana bilateralnim asinkronim gubitkom vida kod mladih osoba. Ovaj je tip neuropatije povezan sa mutacijom mitohondrijske DNA i stoga se nasljeđuje s majčine strane. Bolest prvenstveno zahvaća muškarce, ali oni je ne prenose na potomstvo. Klinička slika, premda karakteristična, nije impresivna. Na početku bolesti velika je razlika između simptoma i znakova. Unatoč značajnom gubitku vidne oštrine, jedini vidljivi znak je retinalna teleangietatska mikroangiopatija u peripapilarnom području. Fluorescinska angiografija pokazuje netaknutu kapilarnu mrežu bez curenja kontrasta čime se isključuje upalna geneza poremećaja