What is it?

Optic nerve hypoplasia is a congenital disorder characterized by underdevelopment of the optic nerves.
The majority of people with ONH have abnormal eye movements, and their vision can vary from no light perception to good functional vision, or even having full vision in one eye.

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Optic nerve hypoplasia.

Additional names

This group contains additional names:
- DeMorsier syndrome
- ONH
- septooptic dysplasia
- SOD
- Optic Nerve Hypoplasia

Signs & symptoms

Rapid, involuntary eye movements
Visual impairment of one or both eyes that ranges from mild to severe.
Inability to regulate basic body functions such as thirst, hunger, sleep, and body temperature.

Diagnosis

In order to diagnose ONH, an ophthalmologist must conduct a complete examination. In order to examine the corpus callosum and optic nerves, imaging studies such as magnetic resonance imaging (MRI) and computerized tomography (CT) are used. MRI findings may suggest ONH, but not diagnose it, since other abnormalities can mimic ONH findings. The diagnosis is confirmed by abnormal levels of serum cortisol and growth hormone.

Treatment

The treatment of ONH is directed toward the specific symptoms in each individual. It may be necessary to coordinate the efforts of pediatricians, neurologists, endocrinologists, or other health care professionals for treatment.
ONH is treated symptomatically and supportively. Hormone replacement therapy is used to treat hormone deficiencies. The vision abnormalities are usually not treatable.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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