Central retinal artery occlusion in a 13-year-old child as a presenting sign of hyperhomocysteinemia together with high lipoprotein(a) level.

BACKGROUND

We describe a child with central retinal artery occlusion and hyperhomocysteinemia.

METHODS

A 13-year-old girl developed sudden vision loss and was hospitalized for diagnosis and treatment.

RESULTS

Her physical examination was normal except for her ophthalmologic examination. Her serum homocysteine level and lipoprotein(a) were elevated to 45.27 μmol/L and 61 mg/dL 0-29 mg/dL, respectively. A homozygous mutation was identified for methylenetetrahydrofolate reductase at position C677T.

CONCLUSION

This report documents central retinal artery occlusion associated with the risk factors of hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677 T mutation and high lipoprotein(a) level in a child. Retinal artery occlusion is rare in children. This patient emphasizes the need for a systemic evaluation for hyperhomocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology.