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Erold Jean-François, MD; Jessica Y. Low, BS; Christine R. Gonzales, MD; David Sarraf, MD

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

Crystalline maculopathy has been reported to occur in up to 100% of patients affected with this rare disorder.² To our knowledge, this case report is the first to describe the optical coherence tomographic findings of the crystalline maculopathy. Moreover, our case was associated with a novel mutation in the fatty aldehyde dehydrogenase enzyme gene not previously reported in the literature to our knowledge.

Report of a Case

Institutional review board approval was obtained from the Charles R. Drew University of Medicine . . . [Full Text of this Article]

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