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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.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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