Ocular findings in beta-thalassemia.

Eye examination was performed in a series of 53 patients whose mean age was 19.5 years (range from 11 to 25 years), affected from Cooley's disease, in treatment with transfusions and desferrioxamine in subcutaneous infusion. The most frequent ocular change was fundus mottling appearance like "leopard skin" (15%).

Depletion of trace elements and acute ocular toxicity induced by desferrioxamine in patients with thalassaemia.

High doses of intravenous desferrioxamine infused over a short period of time induce a large faecal and urinary iron excretion but also produce retinal abnormalities that are characterised by decreased amplitude on electroretinography and defective dark adaptation. This regimen also results in high faecal iron, zinc, and copper excretion, and reduced granulocyte zinc concentrations and alkaline phosphatase activity. The retinal abnormalities may be related to the zinc and copper deficiency and/or iron depletion 'per se' which interferes negatively with critical iron dependent enzymes.

Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.

We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.