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

Erold Jean-François, MD; Jessica Y. Low, BS; Christine R. Gonzales, MD; David Sarraf, MD
Arch Ophthalmol. 2007;125(11):1582-1583. doi:10.1001/archopht.125.11.1582.
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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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Figure 1.

Ichthyosis with generalized hyperkeratotic scales, thickened skin, and accentuated skin markings of forearms.

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Figure 2.

Color fundus photograph showing subtle refractile foveal white dots in the right eye (A) and optical coherence tomographic image demonstrating foveal atrophy in the right eye (135 μm) (B).

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