Macular dystrophies primarily affect the light-sensitive cells of the retina (photoreceptors) of the "cone" type, which are concentrated in the center of the retina, the macula. "Cones" enable accurate daytime vision and perceive colors. The most common hereditary macular dystrophy is Stargardt's disease, which is mainly inherited recessively and rarely dominantly. In Stargardt patients, a genetic diagnosis is useful, because in the presence of disease-causing ABCA4 gene variants, an overdose of vitamin A should be avoided. There are over 40 genes in which disease-causing variants have been identified for other macular dystrophies, such as Best's disease, cone dystrophies, cone-rod dystrophies, adult vitelliform macular dystrophy, achromatopsia (color blindness), and others.
In contrast to age-related macular degeneration (AMD), which can be treated with anti-VEGF therapy, there are only therapeutic approaches for genetic macular dystrophies, but no therapy.
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