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November 2007

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

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.1-3 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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