Bull’-Eye Maculopathy in an Infant With Leigh Dieae

Purpoe To report a bull’-eye maculopathy-like fundu abnormality in an infant with Leigh dieae. Deign Obervational cae report. Method We reviewed the medical, ophthalmic, and genetic record of an eight-month-old boy who preented with hypotonia and bilaterally decreaed viion. Reult The ophthalmic examination revealed poor fixation, marked hyperopia, attenuated retinal veel, and bull’-eye maculopathy. A white blood cell mitochondrial DNA analyi demontrated a T to G mutation at poition 8993 in the mitochondrial ATPae 6 gene. A keletal mucle biopy wa homoplamic for thi mutation, conitent with a evere mitochondrial diorder. Concluion Leigh dieae hould be included in the differential diagnoi of patient preenting with neurologic deficit and a bull’-eye maculopathy.