<unk>  is the most common inherited single-gene retinal disease. In terms of the first description of the disease, it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants <unk> 1). However, there are<unk> l-like diseases with mimicking phenotypes that are referred to as<unk> 3 and<unk> 4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.
Stargardt disease
Akureyri disease
Pickardt syndrome
Batten disease
Keshan disease
Lafora disease
Thiel–Behnke dystrophy
Bosch-Boonstra-Schaaf optic atrophy syndrome