Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)

We present a family with dominant macular dystrophy and flecks (Stargardt) which was followed for 20 years. Twenty-three subjects out of 48 members in 4 generations underwent fundoscopic examination. Nine asymptomatic patients had a few scattered, small, whitish, drusen-like changes in the posterior pole, and an additional patient had several clumps of increased pigmentation at the level of the retinal pigment epithelium in the macular region. Five patients had macular degeneration, with the onset of visual loss at between 24 and 30 years of age. The maculopathy started as fine, punctate, pigmentary changes, with transmission retinal pigment epithelial defects (as seen angiographically), or as flecks. The maculopathy progressed into a garland of perifoveal, subretinal flecks with small, central, areolar, chorioretinal atrophy. At the end-stage, there was a larger, central area of choroidal atrophy and a wider wreath of subretinal flecks. Visual acuity stabilized at the 20/200 level. Visual loss preceded clinically visible choroidal atrophy and was coincident with the accumulation of flecks in the foveal region.