septo-optic dysplasia (de Morsier's syndrome)

Epidemiology

rare

Pathology

• abnormal development of the optic disk
• hypopituitarism
• agenesis of the septum pellucidum (often)

Genetics

• associated with defects in HESX1

Clinical manifestations

• blindness in one or both eyes
• pupil dilation in response to light
• nystagmus
• inward & outward deviation of the eyes
• hypotonia
• hormonal problems
• seizures may occur
• jaundice may occur at birth
• intellectual problems
  • vary in severity among individuals
  • some children with SOD have normal intelligence
  • others have learning disabilities
  • mental retardation
• most are developmentally delayed due to vision impairment or neurological problems

Management

• symptomatic
• hormone replacement if indicated
• optical problems are generally not treatable
• vision therapy/counseling
• physical therapy
• occupational therapy

Prognosis:

• varies with presence & severity of symptoms

More general terms

• developmental disorder

Patient information

septo-optic dysplasia patient information

Database

• OMIM: https://mirror.omim.org/entry/182230