Personalized pediatric ophthalmology: a case report

Abstract

The availability of genetic sequencing has given physicians a new tool for diagnosis and treatment of disease, and "personalized medicine" has become an increasingly common term in general but not in pediatric ophthalmology. We present a case of a toddler who developed ataxia, opsoclonus, myoclonus, and developmental regression following anesthesia for a common otolaryngology procedure. The child was found to have a variant in the MT-ND6 gene (m.14484T>C), most commonly associated with Leber hereditary optic neuropathy, despite a phenotype more closely resembling Leigh syndrome. The incongruence of phenotype and genotype prompted whole exome sequencing, which identified an unexpected intronic missense mutation in RB1 (1960+5G>A), with a 90% penetrance for retinoblastoma. Limited evaluation of the posterior pole in clinic did not identify any lesions, and the risks and benefits of examination under anesthesia were discussed among neurology, ophthalmology, and anesthesiology. We report the outcome of these discussions. The value and risks of personalized medicine are discussed.