Infantile presentation of Leber's hereditary optic neuropathy ‘plus' disease

Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease most often leading to bilateral centroceccal scotoma secondary to preferential loss of papillomacular bundle nerve fibers. Clinical studies suggest that LHON may; be a systemic disease (‘plus' disease) occasionally associated with neurological, cardiac, and skeletal manifestations. Reports of infantile onset of LHON are rare and LHON ‘plus' disease has yet to be described in infancy. We present the case of a 3 year old boy with infantile onset of LHON ‘plus' disease.