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Septo-Optic Dysplasia

What is Septo-Optic Dysplasia?

De Morsier’s syndrome, also known as septo-optic dysplasia, is a disorder affecting early brain and eye development. It is characterized by the underdevelopment of the eye nerve (optic nerve hypoplasia), underdevelopment of the pituitary gland, a structure responsible for regulating many hormones, and abnormal formation or absence of the structures along the midline of the brain. The cause of the disease is not definitively known, however, it appears to be a combination of environmental factors such as viral infection, certain medications, and blood flow disruption, maternal consumption of drugs and alcohol during pregnancy, and in rare cases, genetic factors. Affected individuals may experience episodes of repetitive, uncontrolled movement of the eyes (nystagmus), abnormal pupil response to light, blindness, and hormonal problems. Currently, there is no cure for De Morsier’s syndrome, but treatment targets specific symptoms experienced by each affected individual.

 

Synonyms

  • Septo-optic dysplasia

De Morsier’s syndrome, also known as septo-optic dysplasia, is a disorder affecting early brain and eye development. It is characterized by the underdevelopment of the eye nerve (optic nerve hypoplasia), underdevelopment of the pituitary gland, a structure responsible for regulating many hormones, and abnormal formation or absence of the structures along the midline of the brain. The cause of the disease is not definitively known, however, it appears to be a combination of environmental factors such as viral infection, certain medications, and blood flow disruption, maternal consumption of drugs and alcohol during pregnancy, and in rare cases, genetic factors. Affected individuals may experience episodes of repetitive, uncontrolled movement of the eyes (nystagmus), abnormal pupil response to light, blindness, and hormonal problems. Currently, there is no cure for De Morsier’s syndrome, but treatment targets specific symptoms experienced by each affected individual.

Acknowledgement of Septo-Optic Dysplasia has not been added yet.

It is estimated that 1 in 10,000 newborns are affected by De Morsier syndrome. It affects males and females equally but appears to be more common in children born to younger mothers. 

 

Name Abbreviation
Septo-optic dysplasia De Morsier Syndrome

The cause of De Morsier syndrome is mostly unknown. In rare cases, a mutation in one or more of four genes involved in early development can be detected. HESX1, SOX2, SOX3, and OTX2 are genes involved in the development of the eyes, the pituitary gland, the structures in the midline of the brain, and the optic nerve. Although De Morsier syndrome usually occurs in individuals with no family history and is not inherited, there have been reports of this syndrome running in families. In such cases, it is mostly inherited in an autosomal recessive pattern, meaning that both parents have a defect in one of the associated genes but appear healthy. The affected child inherits the defective copy from both parents, resulting in the presentation of symptoms. In a few instances, De Morsier syndrome has been inherited as an autosomal dominant syndrome, meaning that the individual only needs to inherit a defective copy from one parent to exhibit the disease. 

Since mutations in these genes are present in only a small number of individuals affected by De Morsier syndrome, environmental factors such as maternal drug and alcohol abuse, viral infection, or the disruption of blood flow to the fetus have been suggested as possible contributing factors. De Morsier syndrome appears to involve abnormalities in early development, occurring at the 4th to the 6th weeks of pregnancy.

 

The severity and type of symptoms of De Morsier syndrome differ among individuals. About one-third of affected individuals experience all three associated clinical manifestations: underdevelopment of the optic nerve, underdevelopment of the pituitary gland, and the abnormal formation of the structures along the midline of the brain. In some individuals, symptoms and anomalies may be present at birth, in others they may develop later in childhood.

Optic nerves may be affected in only one side or both sides, leading to loss of clear vision (low visual acuity), significant visual impairment, and even blindness in one eye or both eyes. In healthy individuals, the black center of the eyes (pupil) dilate or constrict in response to changes in the brightness of the environment to adjust the amount of light that enters the eyes. Individuals affected by De Morsier syndrome may experience abnormal dilation in response to light. They may also experience episodes of repetitive, uncontrolled movement of the eyes (nystagmus), and inwardly or outwardly deviated eyes. Low muscle tone is also a common symptom that results in muscles feeling floppy which makes it difficult to move muscles properly or maintain a good posture. 

The most common symptom of the underdevelopment of the pituitary gland is short stature. This is because the pituitary gland regulates the production of growth hormone which stimulates growth. Other symptoms associated with deficiency of other hormones or the abnormal formation of brain structures include excessive thirst or hunger, inability to regulate body temperature, obesity, low blood sugar, abnormalities in genital organs, early puberty, and sleep disturbances.  

Affected individuals may have seizures, developmental delay, and cerebral palsy. Cerebral palsy is a movement disorder that causes poor movement coordination, muscle stiffness, muscle weakness, and tremors.

 

Name Description
Pituitary hormone deficiencies Pituitary hormone deficiencies
Blindness Blindness

The diagnosis of De Morsier syndrome is clinical, based on the presence of two or more features that characterize it. These features are the underdevelopment of the optic nerve, abnormalities in the production of pituitary hormones, and defects in structures along the midline of the brain. In presence of two or more of these features, further visual assessment, medical imaging techniques, and hormonal studies can be performed to confirm the diagnosis.

To confirm the diagnosis of De Morsier syndrome, a Magnetic Resonance Imaging (MRI) is typically performed to assess the size and location of the pituitary gland and other associated structures. An MRI also allows for the evaluation of the optic nerve as well as midline brain structures such as the corpus callosum which connects the left and right hemispheres of the brain. Additionally, different tests can be performed to test the function of the pituitary gland. The pituitary gland releases growth hormone into the bloodstream to stimulate growth and regulates the production of hormones by other organs such as the thyroid gland, adrenal gland, and gonads (testes and ovaries). Consequently, tests that assess the function of these glands can provide insight into the function of the pituitary gland.

There is currently no cure for De Morsier syndrome and treatment targets specific symptoms. If hormonal deficiencies exist, hormone replacement therapy can be beneficial. Hormonal replacement therapy involves the administration of hormones that are not produced sufficiently by the body. Furthermore, children may benefit from developmental services for individuals with visual impairment, as well as receiving physical and occupational therapy.

Individuals with De Morsier syndrome have highly variable prognoses, depending on the severity and types of symptoms present. With early diagnosis and prompt management of hormonal abnormalities, the outlook improves.

Name Description
Patsplace We live in South Australlia and Can do for Kids is great, I think other states have the Royal Society for the Blind. When you go to the opthamologist, it's always good to ask someone from one of these organisations to go and interpret for you

Genetic and Rare Disease Information Center. Septo-optic dysplasia spectrum. 2018. Available from https://rarediseases.info.nih.gov/diseases/7627/septo-optic-dysplasia-spectrum

Reis, Pedro, and Joana Mourão. “Septo-optic dysplasia/de Morsier's syndrome.” Saudi journal of anaesthesia vol. 11,1 (2017): 106-107. doi:10.4103/1658-354X.197350

O'Neill M. Septooptic Dysplasia. OMIM. 2011. Available at https://www.omim.org/entry/182230

Webb, Emma A, and Mehul T Dattani. “Septo-optic dysplasia.” European journal of human genetics : EJHG vol. 18,4 (2010): 393-7. doi:10.1038/ejhg.2009.125

Ferran, Karina de, Paiva, Isla Aguiar, Gilban, Daniel Luiz Schueftan, Resende, Monique, Souza, Micheline Abreu Rayol de, Beserra, Izabel Calland Ricarte, & Guimarães, Marilia Martins. (2010). Septo-optic dysplasia. Arquivos de Neuro-Psiquiatria, 68(3), 400-405. https://doi.org/10.1590/S0004-282X2010000300014

 

Community Details Update Created by RareshareTeam
Last updated 30 Sep 2020, 12:02 AM

Posted by RareshareTeam
30 Sep 2020, 12:02 AM

Hi everyone,

The Septo-optic Dysplasia community details have been updated. We added more information about the cause, prevalence, symptoms, diagnosis, and treatment. Hopefully, you find it helpful. 

Treatment using Adult Stem Cells Created by skinny13
Last updated 16 Mar 2009, 06:34 AM

Posted by skinny13
16 Mar 2009, 06:34 AM

There appears to be a successful treatment method using Adult Stem Cell Therapy. It seems to be applicable to Optic Nerve Hypoplasia as well. http://donmargolis.com/blog/2009/03/stem-cell-research-helps-blind-girl-septo-optic-dysplasia/ However, for a non invasive approach to the natural release of one's own adult stem cells using AFA, a natural botanical, to lead to positive results as well. We have a natural ability to heal ourselves.

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Mother of 1 adult son with SOD.

 

Father of 4. Son (10) has developmental delay and epilepsy, poor eye nerve development. Countless hospital visits without real diagnosis - one consultant finally diagnosed SOD. Becoming...
I'm a Private Caregiver with a Social Work Degree in Healthcare and Gerontology.

 

 

My personal interests are our natural ability to increase the release of adult stem cells to heal...
My name is Pat and we live in Australia, my granddaughter who is 9 months old now was born with congenital panhypopituitarism, takes 3 hormones and has septo optic dysplasia, I'd like to share...

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Community Details Update

Created by RareshareTeam | Last updated 30 Sep 2020, 12:02 AM

Treatment using Adult Stem Cells

Created by skinny13 | Last updated 16 Mar 2009, 06:34 AM


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