Ocular Features of the Hagberg-Santavuori Syndrome

The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1½ years of age. Visual impairment is usu...

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Bibliographic Details
Published in:	American journal of ophthalmology 1986-08, Vol.102 (2), p.262-271
Main Authors:	Bateman, J. Bronwyn, Philippart, Michel
Format:	Article
Language:	eng
Subjects:	Adolescent Biological and medical sciences Cataract - complications Cataract - pathology Errors of metabolism Eye Diseases - complications Eye Diseases - pathology Female Humans Inclusion Bodies - ultrastructure Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Neuronal Ceroid-Lipofuscinoses - complications Neuronal Ceroid-Lipofuscinoses - pathology Optic Atrophy - complications Optic Atrophy - pathology Pigmentation Disorders - complications Pigmentation Disorders - pathology Retinal Degeneration - complications Retinal Degeneration - pathology Schwann Cells - ultrastructure
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Summary:	The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1½ years of age. Visual impairment is usually evident early in the disease and hypopigmented retinal degeneration has been described. We studied two unrelated patients with the infantile Hagberg-Santavuori form and found stellate posterior polar cataracts and retinal degeneration with hyperpigmented “bone spicules” in both.
ISSN:	0002-9394 1879-1891