De Morsier's syndrome

The De Morsier's syndrome - Also called septo-optic dysplasia, a rare disorder that results from the abnormal development of the optic disc in the eye, the pituitary gland, and parts of the brain.

De Morsier’s syndrome causes eye problems, including blindness in one or both eyes, abnormal eye movements such as nystagmus, squint, and dilation of the pupils (rather than the normal contraction) in response to light.

Other symptoms of the syndrome include seizures, hypotonia (poor muscle tone), and hormonal problems, commonly a deficiency in growth hormone leading to short stature.
Treatment aims to relieve symptoms such as hormonal deficiencies, and to provide rehabilitation for affected people who have impaired vision.


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