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 1 1/2 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.
D000293:Adolescent; D002386:Cataract / Q000150:complications* / Q000473:pathology; D005128:Eye Diseases / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000473:pathology; D009896:Optic Atrophy / Q000150:complications / Q000473:pathology; D010859:Pigmentation Disorders / Q000150:complications* / Q000473:pathology; D012162:Retinal Degeneration / Q000150:complications* / Q000473:pathology; D012583:Schwann Cells / Q000648:ultrastructure