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Bull's-eye maculopathy in an infant with Leigh disease
Philip W Laird1, Brian G Mohney, Deborah L Renaud
1Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
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.
