Bull's-eye maculopathy in an infant with Leigh disease.
OBJECTIVE
To report a bull's-eye maculopathy-like fundus abnormality in an infant with Leigh disease.


METHODS
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.


CONCLUSIONS
Leigh disease should be included in the differential diagnosis of patients presenting with neurologic deficits and a bull's-eye maculopathy.
Laird
Philip W
PW
Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Mohney
Brian G
BG
Renaud
Deborah L
DL
D000251:Adenosine Triphosphatases / Q000235:genetics; D001284:Atrophy; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000150:complications* / Q000175:diagnosis; D008266:Macula Lutea / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000235:genetics; D009123:Muscle Hypotonia / Q000175:diagnosis; D009154:Mutation; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*
D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases