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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.
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. Confound: Leigh disease should be included in the differential diagnosis of patients presenting with neurologic deficits and a bull’s-eye maculopathy.