Septo-Optic Dysplasia Information Page

Septo-Optic Dysplasia Information Page


What research is being done?

The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

Information from the National Library of Medicine’s MedlinePlus
Eye Diseases

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What research is being done?

The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

Information from the National Library of Medicine’s MedlinePlus
Eye Diseases

The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

Information from the National Library of Medicine’s MedlinePlus
Eye Diseases

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Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
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Organizations
Organizations
Publications
Publications
Definition
Definition

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.

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Definition

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Treatment
Treatment

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

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Treatment

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

Definition
Definition

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Treatment
Treatment

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

Prognosis
Prognosis

The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

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The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

Prognosis
Prognosis

The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

Definition

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities. Most, however, are developmentally delayed due to vision impairment or neurological problems.

Treatment

Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally not treatable. Vision, physical, and occupational therapies may be required.

Prognosis

The prognosis for individuals with SOD varies according to the presence and severity of symptoms.

What research is being done?

The NINDS supports and conducts neurogenetic research which focuses on identifying and studying the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as SOD.

Information from the National Library of Medicine’s MedlinePlus
Eye Diseases

Patient Organizations
FOCUS Families
228 E. Palomino Court
Gilbert
AZ
Gilbert, AZ 85296
Tel: 866-FOCUS-50 (866-362-8750)
Magic Foundation [Growth Disorders]
6645 West North Avenue
Oak Park
IL
Oak Park, IL 60302
Tel: 708-383-0808; 800-3-MAGIC3 (362-4423)
March of Dimes
1275 Mamaroneck Avenue
White Plains
NY
White Plains, NY 10605
Tel: 914-997-4488; 888-MODIMES (663-4637)
National Eye Institute (NEI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda
MD
Bethesda, MD 20892-2510
Tel: 301-496-5248
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health, DHHS
31 Center Drive, Rm. 9A06 MSC 2560
Bethesda
MD
Bethesda, MD 20892-2560
Tel: 301-496-3583; 866-569-1162 (TTY)
Patient Organizations