About de morsier syndrome
What is de morsier syndrome?
The syndrome of optic nerve hypoplasia (ONH), also known as septooptic dysplasia (SOD) or DeMorsier syndrome, is a congenital disorder characterized by underdevelopment (hypoplasia) of the optic nerves. The optic nerves transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain. Children with ONH may have brain and pituitary malformations. Abnormalities of structures of the brain may include hypoplasia of the corpus callosum (nerve fibers that connect the two hemispheres of the brain), underdeveloped nerve fibers (white matter) in any other location, and abnormal migration of neurons to the surface of the brain (cortical heterotopia). A common association without any known functional consequence is absence of the septum pellucidum. Abnormal development of the hypothalamus at the base of the brain results in abnormal function of the pituitary gland with or without visible neuroradiographic abnormalities of the pituitary. The pituitary gland is a hormone-producing gland at the base of the brain that controls hormones in the body that are necessary for growth, energy, and sexual development.
Most people with ONH have abnormal eye movements (nystagmus) and vision can range from no light perception to good functional vision, or even full vision in one eye. Some affected children have normal intelligence and others have learning disabilities and developmental delays. Deficiencies of certain hormones may result in growth retardation, poor development, and may be life-threatening without treatment. Hormone deficiencies can be controlled with daily hormone replacement therapy and close monitoring by an endocrinologist (hormone doctor). The cause of ONH is not understood.
What are the causes for de morsier syndrome?
In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development.
At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia.
Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
What are the treatments for de morsier syndrome?
A rare condition called septo-optic dysplasia (SOD) or de morsier syndrome affects how several sections of your brain develop. The dysfunction of your vision, hormones, muscles, learning, and many other brain functions can be influenced by these afflicted areas of the brain. Congenital disorders are ones that are present from birth, even if symptoms may not appear until much later in life. De Morsier syndrome is a different term for SOD.
The SOD condition is incurable. The goal of treatment is to control symptoms and slow or stop metabolic abnormalities, which can lead to major health concerns. Early on in SOD's development is when treatment is most effective.
1. Hormone replacement treatment (HRT): HRT can assist in controlling various issues associated with pituitary gland dysfunction, such as growth and sexual development. HRT may also halt the onset of diabetes and obesity.
2. Physical, occupational, or speech therapy: It can all benefit young patients' development of muscle power and functionality. Additionally, occupational therapy can help children learn how to carry out daily tasks more independently. Speech therapy helps improve communication and language abilities.
3. Vision therapy: Children who have difficulty focusing or moving their eyes may benefit from vision treatment. In order to perform better at school, they also learn how to use low-vision aids like glasses or magnifiers.
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