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Precision Medicine for the Ophthalmologist: Next-generation genetic tools in approaching eye disease

The identification of disease-causing genes provides information about the pathogenesis of heritable eye diseases at the most basic level. Finding the causative gene of a disease helps the patient move beyond the unknown into the world of knowing what they have, what the future might hold, recurrence risk assessment, identification of at risk family members, contact with appropriate support groups, knowledge of what else to look for, and appropriate surveillance screening, and most importantly, the new possibility of gene based treatment.