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Background : Mutations in the retina-specific ABC transporter ( ABCA4 ) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy,  Fundus flavimaculatus, Retinitis pigmentosa  and probably age-related macular degeneration.

De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy