Mutations in the gene encoding ABCR are responsible for Stargardt macular dystrophy. Here we show by immunofluorescence microscopy and western-blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. Our results suggest that the loss in central vision experienced by Stargardt patients arises directly from ABCR-mediated foveal cone degeneration.

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In one previous report plasma free amino-acids were found to be normal in seven patients with hereditary retinitis pigmentosa (Campbell and Tonks, I962); however, the genetic types studied and the amino-acids measured were not specified. Simell, 1974).The present study was undertaken in order to determine plasma ornithine and taurine concentrations in patients who had different genetic types of retinitis pigmentosa and allied chorio-retinal degenerations. Precursors and metabolites of ornithine and taurine as well as levels of lysine (an analogue of ornithine) were also measured. MethodsPlasma free amino-acids were measured in 41 patients with representative types of hereditary retinal degenerations, six relatives of patients with gyrate atrophy of

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