What is septo-optic dysplasia?
This is John's mom, Leah's personal description.
People with ONH or SOD can have:
- visual impairment — from quite good vision to low vision to totally blind, due to optic nerve hypoplasia
- brain differences — sometimes the septum pellucidum is missing (the wall between the two lateral ventricles of the brain). Sometimes part or all of the corpus callosum is missing (connects the two cerebral hemispheres). There can be many other varied structural brain differences, often in the midline of the brain.
- hormonal problems — due to improper pituitary function and other brain differences. May include low thyroid, low cortisol, low vasopressin (diabetes insipidus), low growth hormone, sex hormone problems. If you have ONH, you can still have hormonal problems even if you are not diagnosed with SOD, if your pituitary looks normal on MRI, if your septum pellucidum is intact, or if you are not totally blind. If the problems are not present at birth, they can suddenly develop at a later age. They can be life-threatening. Several children have died. It is important to be monitored for life for these problems and be educated about them.
- developmental delays — motor issues ranging from minor delays to severe cerebral palsy; many others.
- other possible issues — sensory integration problems; learning difficulties; behavior problems; cleft palate; autism spectrum; premature birth; no sense of smell; trouble with appetite, thirst, temperature control due to hypothalamic differences
There is a wide range of function in people with the ONH/SOD diagnosis, from those who need lifelong care in all areas, to those who have graduate degrees and live independently.
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Once rare, ONH is now the leading cause of blindness in infants and toddlers. (2006)
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What is the difference between optic nerve hypoplasia and septo-optic dysplasia?
Optic nerve hypoplasia is a term for when some part of the optic nerve did not develop properly before birth.
It is often associated with structural differences/anomalies in the brain, and with hormonal problems. Frequently there are significant developmental issues as well.
Some professionals have criteria for septo-optic dysplasia such as: having two out of three of:
- optic nerve hypoplasia
- certain midline brain anomalies
- hormonal problems from improper pituitary function
One researcher would like the term “optic nerve hypoplasia” to be used for both ONH and SOD. As far as I know, there is not yet a consensus among professionals about the use of the terms ONH and SOD.
Septo-optic dysplasia was formerly called DeMorsier's Syndrome.
