title: Bull's-eye maculopathy in an infant with Leigh disease.
abstract: 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.
authors.affiliation: Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
authors.forename: Philip W
authors.initials: PW
authors.lastname: Laird
authors.forename: Brian G
authors.initials: BG
authors.lastname: Mohney
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Renaud
mesh_terms: 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*
chemical_list: D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases