GUCA1A mutations are implicated in a wide panel of retinal dystrophies and are shown to result in constitutive activation of retGC1, which in turn leads to calcium overload, causing photoreceptor death, predominantly in cones.26,27 In this study we reveal a novel GUCA1A mutation, p.R120L, in a family with variable maculopathies ranging from mild photoreceptor degeneration to CACD. The gene discussed is GUCY2D; the disease is central areolar choroidal dystrophy.