Abstract
АBСА4-associated inheredited retinal dystrophies represent a heterogeneous group of more often autosomal recessive hereditary diseases. АBСА4 mutation in 80 % of cases is the cause of Stargardt’s disease, fundus albipunctatus, but there are other phenotypes similar to retinitis pigmentosa, cone-rod retinal dystrophies. Active development of targeted and gene therapy for АBСА4 demands a more thorough identification of patients with this mutation, and the clinical polymorphism of this group of inheredited retinal dystrophies necessitates genetic analysis for a correct clinical and genetic diagnosis. Keywords: ABCA4-associated retinopathies, Stargardt’s dystrophy, type 3 retinal cone-rod dystrophy, type 39 retinitis pigmentosa, fundus albipunctatus
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