The clinical manifestations of the patient described in this work are related to sensory neurodevelopmental disorders (congenital bilateral deafness and progressive optic atrophy), suggesting that the neurons of the sensory organs (retinal ganglion cells, hair cells, and auditory nerves) would be more susceptible to the wolframin insufficiency caused by the WFS1 genetic variant present in this patient. Here, WFS1 is linked to deafness.