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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome.

Necropsy material from the eye of a 23-year-old male known to have suffered from the Sjögren-Larsson syndrome, characterised by mental retardation, spastic diplegia or tetraplegia, congenital ichthyosis, and so-called glistening dots in the foveal and parafoveal areas of the fundus of the eye, was investigated ultrastructurally. The retinal pigment epithelium in the macular area showed a significant increase in lipofuscin granules, most likely because of a reduced capacity for digestion of phagocytosed material, and a significant decrease in melanin and melanolipofuscin granules in comparison with a normal control material. The ophthalmoscopically visible glistening dots and the pigment epithelial 'windows' seen on fluorescein angiography may possibly be explained by a further progression of these changes. No retinal changes were found in the macular area, the midperiphery, or the periphery that could be attributed with certainty to any other origin than post-mortem autolysis. More material would be needed, however, to elucidate further the fundal changes in the Sjögren-Larsson syndrome.[1]


  1. Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome. Nilsson, S.E., Jagell, S. The British journal of ophthalmology. (1987) [Pubmed]
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