Ocular findings in beta-thalassemia.

Area of Science:

• Ophthalmology
• Hematology
• Pharmacology

Background:

• Cooley's disease (thalassemia major) involves iron overload due to frequent blood transfusions.
• Iron overload can lead to systemic complications, including ocular manifestations.
• Desferrioxamine is a chelating agent used to treat iron overload in thalassemia patients.

Purpose of the Study:

• To investigate the ocular changes in patients with Cooley's disease undergoing desferrioxamine treatment.
• To assess the efficacy of desferrioxamine in preventing or mitigating iron-related ocular complications.

Main Methods:

• Ophthalmological examinations were conducted on 53 patients diagnosed with Cooley's disease.
• Patients were undergoing treatment with regular transfusions and subcutaneous desferrioxamine infusions.
• Ocular findings were documented, and visual acuity was assessed.

Main Results:

• The most common ocular finding was fundus mottling, resembling "leopard skin" (15% of patients).
• Other observed changes included lens opacity (11%), drusen (7%), and retinal venous tortuosity (5%).
• Importantly, none of the observed ocular changes were associated with impaired visual acuity.

Conclusions:

• Ocular abnormalities are present in Cooley's disease patients treated with desferrioxamine.
• The pathogenesis is linked to abnormal iron metabolism, despite chelation therapy.
• The data suggest desferrioxamine's role in iron removal from the eyeball may be limited.