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septo-optic dysplasia (de Morsier's syndrome)
Epidemiology: rare
Pathology:
1) abnormal development of the optic disk
2) hypopituitarism
3) agenesis of the septum pellucidum (often)
Genetics:
- associated with defects in HESX1
Clinical manifestations:
1) blindness in one or both eyes
2) pupil dilation in response to light
3) nystagmus
4) inward & outward deviation of the eyes
5) hypotonia
6) hormonal problems
7) seizures may occur
8) jaundice may occur at birth
9) intellectual problems
a) vary in severity among individuals
b) some children with SOD have normal intelligence
c) others have learning disabilities
d) mental retardation
10) most are developmentally delayed due to vision impairment or neurological problems
Management:
1) symptomatic
2) hormone replacement if indicated
3) optical problems are generally not treatable
4) vision therapy/counseling
5) physical therapy
6) occupational therapy
Prognosis:
- varies with presence & severity of symptoms
General
developmental disorder
Database Correlations
OMIM 182230
References
- NINDS Septo-Optic Dysplasia Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Septo-optic-dysplasia-Information-Page