摘要
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.
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.
出处
《世界核心医学期刊文摘（眼科学分册）》
2006年第10期59-59,共1页
Digest of the World Core Medical Journals:Ophthalmology
