Patients with Sjögren-Larsson syndrome lack macular pigment.

@article{Veen2010PatientsWS,
  title={Patients with Sj{\"o}gren-Larsson syndrome lack macular pigment.},
  author={Rob L. P. van der Veen and Joris Fuijkschot and Mich{\`e}l A. A. P. Willemsen and Johannes R. M. Cruysberg and Tos T. J. M. Berendschot and Thomas Theelen},
  journal={Ophthalmology},
  year={2010},
  volume={117 5},
  pages={966-71}
}
PURPOSE Sjögren-Larsson syndrome (SLS), an autosomal recessive hereditary disorder with congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation, reveals a characteristic macular dystrophy with intraretinal crystals and foveal pseudocysts. Ophthalmic symptoms in SLS are reduced visual acuity and photophobia. This article reports the deficiency of macular pigment as a novel finding in this peculiar, congenital maculopathy. DESIGN Cross-sectional, observational case study… CONTINUE READING

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