Młodzieńcza dystrofia plamkowa Besta (żółtkowata dystrofia plamki)
Best Disease – Vitelliform Macular Degeneration
Małgorzata Niedośpiał, Monika Turczyńska, Dariusz Kęcik
Klinika Okulistyki I Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego Kierownik: prof. dr hab. n. med. Dariusz Kęcik
Summary: Authors present on the basis of medical literature and own experience the news on the subject of Best vitelliform macular dystrophy. They point methods of investigations and difficulties in diagnosis.
Clinical characteristics: Best disease is a slowly progressive form of macular dystrophy with childhood-onset accumulation of lipofuscin in the retinal pigment epithelium. Affected individuals have a typical yellow yolk-like macular lesion. There are several stages in the disease evolution. Patients develop progressive central visual acuity loss.
Diagnosis/ testing: The diagnosis is based on fundus examination, electrooculogram and family history. Best vitelliform macular dystrophy is caused by mutations in the VMD2 gene, which encodes the bestrophin-1 protein - calcium-activated chloride channel from the retinal pigment epithelium.
Treatment: There is not a causal treatment of Best disease. Anti-VEGF agents are used to treat patients with choroidal neovascularization.
Słowa kluczowe: choroba Besta, żółtkowata dystrofia plamki, lipofuscyna, bestrofina-1, elektrookulografia, gen VMD2, gen BEST1.
Keywords: Best disease, vitelliform macular dystrophy, lipofuscin, bestrophin-1, electrooculography, VMD2 gene, BEST1 gene.