Optic nerve hypoplasia is underdevelopment of the optic nerve present from birth. When combined with midline brain abnormalities and pituitary dysfunction, it is termed septo-optic dysplasia.
Features and diagnosis
Severity ranges from mild visual reduction to profound impairment.
- Small, pale optic discs often with a double-ring sign
- Nystagmus and reduced visual acuity in infancy
- Neuroimaging may show absent septum pellucidum or other midline defects
- Endocrine abnormalities such as growth hormone deficiency in septo-optic dysplasia
Management
Care is multidisciplinary and long term.
- Regular ophthalmic monitoring and low-vision support
- Endocrine evaluation and hormone replacement where needed
- Early developmental and educational interventions
- Genetic counselling in selected cases
