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

Philip W. Laird, Brian G. Mohney, Deborah L. Renaud

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)186-187
Number of pages2
JournalAmerican journal of ophthalmology
Volume142
Issue number1
DOIs
StatePublished - Jul 1 2006

ASJC Scopus subject areas

  • Ophthalmology

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