Septo-optic dysplasia

Septo-optic dysplasia (SOD) is also known as de Morsier syndrome, named after Swiss neurologist Georges de Morsier, who was the first to identify this congenital - which means present from birth - malformation that is characterised by a triad of 'symptoms' affecting the midline of the brain.

1. Underdeveloped optic nerves
The human eye contains around one million optic nerve bundles, although someone with thinned optic nerves such as Travis the Lionheart can still have excellent vision with less. SOD sufferers range in their vision capability, from being completely blind, to having only somewhat diminished vision. As Travis is autistic, he cannot communicate with us to confirm the extent of his vision. We know that his right eye has better vision than his left eye, which 'wanders'. This results in poor depth perception. When Travis was still an infant, he had nystagmus, which is the rapid movement of eyes, almost as if they were 'vibrating'. It was this unsettling condition, so common to SOD children, which led to his diagnosis. Underdeveloped (hypoplastic) optic nerves cannot be corrected by surgery or medication - though Travis can undergo surgery to correct his wandering eye. Prescription lens are an option.

2. Missing septum pellucidum.
The septum pellucidum is a tiny triangle-shaped membrane that separates the lateral ventricles of the brain. It is missing in SOD children and adults. Science tells us that it does play a part in the regulation of emotions, such as anger or pleasure. An MRI at eight months of age showed that Travis does not have a septum pellucidum. A missing 'SP' can also result in focal seizures, which Travis is on epilepsy medication for.

3. Hormone deficiencies (hypopituitarism)
Like the optic nerve chasm, and the septum pellucidum, the pituitary (hormone) functions are also found on the midline of the brain. It affects 70% of SOD cases. The hormone most commonly missing in SOD children and adults is the growth hormone. The other hormones that can be deficient are cortisol made by the adrenal glands (your 'fight or flight' instinct is controlled by this), and the anti-diurectic hormone - the lack of this causes 'water diabetes' which many SOD sufferers struggle with. Although Travis does have a malformed pituitary gland, and is tested regularly to ensure he has normal hormone function, he is thankfully not presenting with any deficiencies yet.

No one knows what cause Septo Optic Dysplasia. 1% of cases are genetic, and there are four gene mutations causing that 1% that we know of, with more being discovered every day. It is a highly variable condition. Children like Travis have developmental delays, which is why he cannot walk or talk yet. There may also be cognitive impairment, which Travis has as well - although his autism also prevents us from measuring this. Autism is affecting around 30% of Septo Optic Dysplasia cases.

Reading:
http://www.nmsbvi.k12.nm.us/NEWS_HandoutDownloads/DrBorchertConference_March2012/ReconsideringSeptoOpticDysplasia.pdf