Macular infarction in sickle cell B+ thalassemia

Area of Science:

• Ophthalmology
• Hematology
• Genetics

Background:

• Sickle cell disorders are inherited blood diseases that can affect various organs.
• Sickle cell B+ thalassemia is a variant characterized by reduced beta-globin chain synthesis.
• Ocular complications are known in sickle cell disease, but macular infarction is rare.

Observation:

• A young Black female with sickle cell B+ thalassemia presented with vision impairment.
• Examination revealed occlusion of multiple arterioles supplying the macula in the right eye.

Findings:

• The patient sustained a macular infarction in her right eye.
• Follow-up showed optic atrophy and microvascular abnormalities in the affected macula.
• This represents the first documented instance of macular infarction in sickle cell B+ thalassemia.

Implications:

• Highlights the potential for severe, sight-threatening ocular complications in sickle cell B+ thalassemia.
• Underscores the need for comprehensive ophthalmologic screening in patients with this condition.
• May inform future research into the pathogenesis and management of sickle cell retinopathy.