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Mary Whitman, MD, PhD
Assistant Professor of Ophthalmology, Boston Children's Hospital
Assistant Professor of Ophthalmology, Harvard Medical School
Oculomotor Development and Genetics of Eye Movement Disorders

Proper vision depends on the ability to keep the eyes steady on a target, move them to new targets, and keep the eyes aligned. Childhood eye movement disorders, including strabismus (misaligned eyes) and nystagmus (involuntary oscillation of the eyes) can have life long visual and social consequences. Current treatments are not always effective and do not address the underlying cause of the disorder. Our lab aims to understand the developmental mechanisms that are altered in eye movement disorders with the ultimate goal of developing new treatments. We do this using multiple techniques, including human genetics, mouse models, confocal imaging, viral transsynaptic tracing, and cell culture of both cell lines and human induced pluripotent stem cells. We study all levels of the oculomotor system, from the eye muscles to the motor neurons to the brainstem circuitry that controls eye movements. We enroll human patients with strabismus or nystagmus to identify genetic variants associated with the condition, we then model these genetic variants in cell culture to understand their effects and how they contribute to strabismus or nystagmus. At the same time, we are using mouse models to define the molecular and cellular steps required for development of the oculomotor system and identify which steps and pathways are perturbed in nystagmus.