Stargardt Macular Dystrophy

ABCA4 -associated autosomal recessive Stargardt disease (STGD1; MIM 248200), also known as Stargardt macular dystrophy, is the most common monogenic macular dystrophy in adults and children (Allikmets et al. 1997; Stone et al. 2017). There is an estimated prevalence of 1 in 8000 to 1 in 10,000 (Blacharski 1988). Most common onset of disease symptoms is during childhood or teenage years and is characterized by impairment of central vision that usually progresses to legal blindness (Fishman et al. 1987; Rotenstreich et al. 2003). The peripheral vision is preserved most of the time (Aaberg 1986). Some late and adult onset Stargardt phenotypes are associated with milder missense mutations (Fujinami et al. 2013b; Genead et al. 2009).