Stargardt’s Macular Dystrophy
Alina Szajkowska, Wojciech Hautz, Joanna Gołębiewska, Andrzej Olechowski, Agnieszka Czeszyk-Piotrowicz
Klinika Okulistyki, Instytut „Pomnik Centrum Zdrowia Dziecka” w Warszawie
Kierownik: dr n. med. Wojciech Hautz
Summary: Stargardt’s disease is the most common form of early onset macular degeneration. Mainly the mutations in ABCA4, a member of the ATP-binding cassette (ABC) family, are associated with Stargardt’s disease. Accumulation of Lipofuscin in the retinal pigment epithelium leading to its atrophy, followed by a secondary degeneration of the photoreceptors and choriocapillaris. Typically, it presents in childhood or teenage. Affected patients usually complain about gradual decrease in visual acuity. Fluorescein angiography reveal characteristic pattern. Optical coherence tomography exhibit typical features in outer bands of retina and choroid since first stages of disease.
Słowa kluczowe: choroba Stargardta, optyczna koherentna tomografia – OCT, angiografia fluoresceinowa – FA, gen ABCA4, ABCR.
Keywords: Stargardt’s disease, optical coherence tomography – OCT, fluorescein angiography – FA, ABCA4 gen, ABCR.