Coronal MRI. One feature of septo-optic dysplasia is a lack of the septum pellucidum, which we can think of as an indication of the “midline” nature of this disorder. Abnormality noted and compared to normal.
Septo-Optic Dysplasia
Septo-optic dysplasia is a syndrome of midline dysplasia.
Specifically, there is:
- Optic nerve hypoplasia, which manifests with vision impairment (and the related but more rare finding of nystagmus).
- Pituitary hypoplasia, which manifests with endocrinopathies: short stature, hypoglycemia, and impairment in sexual development, including cryptorchidism (an absence of testes from the scrotum.
- Septum pellucidum agenesis (failure to develop), a characteristic radiographic finding.
- Corpus callosum hypoplasia
Additional symptoms of septo-optic dysplasia include:
- Seizures
- Developmental delay
- Motor deficits (hypotonia)