[Bilateral occipital calcifications, optic atrophy and juvenile maculopathy: retrograde transsynaptic degeneration?]

The unusual combination of bilateral occipital calcification in the area of the calcarine fissure, optic atrophy and macular changes was seen in a four-year-old girl. Corrected visual acuity was R 0.1 and L 0.5. There was irregular concentric narrowing of the visual fields. The ERG was normal, but the latencies of visually evoked potentials were markedly prolonged. The course was nonprogressive over seven years. The pathogenesis of the occipital calcification remains unexplained; the authors tentatively attribute it to a prenatal or perinatal lesion. The optic atrophy is interpreted as a consequence of retrograde transsynaptic degeneration extending to retinal ganglion cells. It appears unlikely that the macular changes, consisting of discrete hyperpigmentations and depigmentations, are the result of loss of retinal nerve fibers. The independent occurrence of juvenile macular degeneration seems a more probable cause.