Living with Septo-optic dysplasia sequence
A condition affecting early brain development, involving the optic nerves, the middle of the brain, and the pituitary gland.
Understanding Septo-optic dysplasia sequence
The features are underdeveloped optic nerves (the nerves from the eye to the brain), differences in the brain's midline structures, and an underdeveloped pituitary gland. Fewer than half of people have all three. Vision can be impaired in one or both eyes. Brain differences can lead to intellectual disability and behavior issues. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped optic nerves
- Visual impairment
- Rapid involuntary eye movements (nystagmus)
- Underdeveloped pituitary gland
- Short stature
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in HESX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Human Growth Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is linked to changes in the HESX1 gene. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: de morsier syndrome; hesx1-related combined pituitary hormone deficiency; septo optic dysplasia; septo-optic dysplasia; septo-optic dysplasia spectrum; septooptic dysplasia
Patient organizations
- Human Growth FoundationSepto-optic dysplasia sequence · United States
- The MAGIC FoundationSepto-optic dysplasia sequence · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Septo-optic dysplasia sequence.
Explore research for Septo-optic dysplasia sequence
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