Bull's-Eye Maculopathy in an Infant With Leigh Disease

Purpose: To report a bull's-eye maculopathy-like fundus abnormality in an infant with Leigh disease. Design: Observational case report. Methods: We reviewed the medical, ophthalmic, and genetic records of an eight-month-old boy who presented with hypotonia and bilaterally decreased vision. Results: The ophthalmic examination revealed poor fixation, marked hyperopia, attenuated retinal vessels, and bull's-eye maculopathy. A white blood cell mitochondrial DNA analysis demonstrated a T to G mutation at position 8993 in the mitochondrial ATPase 6 gene. A skeletal muscle biopsy was homoplasmic for this mutation, consistent with a severe mitochondrial disorder. Conclusion: Leigh disease should be included in the differential diagnosis of patients presenting with neurologic deficits and a bull's-eye maculopathy.