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What is Optic Nerve Hypoplasia?

Instructor: Danielle Haak

Danielle has a PhD in Natural Resource Sciences and a MSc in Biological Sciences

You might know that the optic nerve connects your eye to your brain, so what happens to your vision when your optic nerve is underdeveloped? Read this lesson to learn about optic nerve hypoplasia.

Some Nerve

Before we jump into possible problems affecting the optic nerve, what is the optic nerve? The optic nerve is the pathway responsible for transmitting the information received by the eye to the appropriate parts of the brain that interpret the information (i.e., interpret what you are seeing). Basically, this is the lifeline of visual information from your eye to your brain.

Optic nerve hypoplasia is a condition where the optic nerve is unusually small and underdeveloped. This is a condition present from birth and results from improper development during fetal development. However, there is currently no known cause for why this happens, though researchers continue to search for a cause.

Optic nerve hypoplasia may also be referred to as DeMorsier syndrome or septooptic dysplasia.

People with optic nerve hypoplasia have excessively small optic nerves, decreasing the amount of information that can be transmitted.
optic nerve diagram

Symptoms of Optic Nerve Hypoplasia

The most prominent symptom is vision impairment, and it may affect one or both eyes. Sometimes there is an additional symptom where the eyes actually shake or have irregular movements. This is called nystagmus and happens because the eye has trouble focusing.

When optic nerve hypoplasia is diagnosed in children, there is a good chance they will have some vision improvement during the first few years of life. However, impairment levels can range from almost imperceptible to complete blindness.

Optic nerve hypoplasia may be an indicator of additional problems in the central nervous system (brain and spinal cord), which may cause additional symptoms. The person may be at higher risk of experiencing seizures, developmental disabilities, and hormone imbalances.

Treatment Options

Optic nerve hypoplasia is diagnosed through an MRI imaging scan. Though the cause is not known, most cases do not appear to be degenerative (or get worse) over time, and as previously mentioned, many children actually see an improvement in their vision over time. Additionally, the nystagmus symptoms may also decrease in severity and frequency over time.

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