Laird Philip W, Mohney Brian G, Renaud Deborah L
Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Am J Ophthalmol. 2006 Jul;142(1):186-7. doi: 10.1016/j.ajo.2006.02.051.
To report a bull's-eye maculopathy-like fundus abnormality in an infant with Leigh disease.
Observational case report.
We reviewed the medical, ophthalmic, and genetic records of an eight-month-old boy who presented with hypotonia and bilaterally decreased vision.
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.
Leigh disease should be included in the differential diagnosis of patients presenting with neurologic deficits and a bull's-eye maculopathy.
报告1例患有 Leigh 病的婴儿出现的靶心样黄斑病变样眼底异常。
观察性病例报告。
我们回顾了1名8个月大男孩的医学、眼科和基因记录，该男孩表现为肌张力减退和双眼视力下降。
眼科检查发现注视不良、明显远视、视网膜血管变细以及靶心样黄斑病变。白细胞线粒体DNA分析显示线粒体ATP酶6基因第8993位存在T到G的突变。骨骼肌活检对此突变为同质型，符合严重的线粒体疾病。
Leigh病应纳入伴有神经功能缺损和靶心样黄斑病变患者的鉴别诊断中。
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