November 2007

Sjögren-Larsson Syndrome and Crystalline Maculopathy Associated With a Novel Mutation

Author Affiliations

Copyright 2007 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2007

Arch Ophthalmol. 2007;125(11):1582-1583. doi:10.1001/archopht.125.11.1582

Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disorder characterized by congenital ichthyosis, spasticity, and mental retardation.13 Ichthyosis is commonly the earliest sign and is usually present at birth.1 Spastic diplegia or tetraplegia and varying degrees of mental retardation usually emerge in the first 2 years of life.1,2 Additional findings include short stature, seizure disorder, speech defects, and enamel hypoplasia.

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