| Autor: |
Bateman, J. Bronwyn, Philippart, Michel |
| Zdroj: |
American Journal of Ophthalmology; August 1986, Vol. 102 Issue: 2 p262-271, 10p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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