De Morsier’s syndrome, also known as septo-optic dysplasia, is an uncommon disorder characterized by the abnormal development of the optic disc, pituitary gland, and certain regions of the brain. This syndrome gives rise to various eye issues, including blindness in one or both eyes, abnormal eye movements such as nystagmus, strabismus (squint), and atypical dilation of the pupils in response to light instead of the normal constriction. Additional symptoms may include seizures, hypotonia (reduced muscle tone), and hormonal abnormalities, often manifested as a deficiency in growth hormone leading to short stature.
The goal of treatment is to alleviate symptoms associated with hormonal deficiencies and to offer rehabilitation to individuals affected by impaired vision.