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

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 2006

Fingerprint

Leigh Disease
Hyperopia
Mitochondrial Diseases
Retinal Vessels
Mutation
Muscle Hypotonia
Medical Genetics
Neurologic Manifestations
Mitochondrial DNA
Adenosine Triphosphatases
Skeletal Muscle
Leukocytes
Differential Diagnosis
Biopsy
Genes
Concentric annular Macular dystrophy

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Bull's-Eye Maculopathy in an Infant With Leigh Disease. / Laird, Philip W.; Mohney, Brian G.; Renaud, Deborah L.

In: American Journal of Ophthalmology, Vol. 142, No. 1, 07.2006, p. 186-187.

Research output: Contribution to journalArticle

Laird, Philip W. ; Mohney, Brian G. ; Renaud, Deborah L. / Bull's-Eye Maculopathy in an Infant With Leigh Disease. In: American Journal of Ophthalmology. 2006 ; Vol. 142, No. 1. pp. 186-187.
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