Pitt-Hopkins syndrome is a rare genetic neurodevelopmental disorder caused by TCF4 mutations. Eye findings form part of a wider pattern of developmental delay and characteristic facial features.
Ocular and systemic features
Children typically present with global developmental delay and breathing abnormalities.
- Distinctive facial appearance with deep-set eyes and wide mouth
- Strabismus, refractive errors, and occasional optic nerve anomalies
- Episodes of hyperventilation and breath-holding
- Seizures and intellectual disability are common
Management
Care is multidisciplinary and supportive.
- Early ophthalmic assessment for glasses, patching, or squint surgery
- Neurology, respiratory, and developmental paediatrics involvement
- Genetic counselling for families
- Educational and behavioural support tailored to individual abilities
