ABSTRACT
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%). We found also lens opacity (11%), drusen (7%), retinal venous tortuosity (5%), without impairment of visual acuity. The pathogenic factors of the ocular change are related to abnormality of iron metabolism. These results suggest that the involvement of desferrioxamine to remove iron from the eyeball is relatively small.
Subject(s)
Eye Diseases/etiology , Thalassemia/complications , Adolescent , Adult , Blood Transfusion , Cataract/etiology , Child , Deferoxamine/therapeutic use , Female , Humans , Male , Retinal Diseases/etiology , Retinal Drusen/etiology , Thalassemia/drug therapyABSTRACT
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.
Subject(s)
Copper/deficiency , Deferoxamine/adverse effects , Retinal Diseases/chemically induced , Thalassemia/drug therapy , Zinc/deficiency , Adolescent , Child , Copper/metabolism , Deferoxamine/administration & dosage , Deferoxamine/metabolism , Electroretinography , Humans , Infusions, Intravenous , Thalassemia/metabolism , Time Factors , Zinc/metabolismABSTRACT
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.