PURA syndrome is a rare neurodevelopmental disorder caused by PURA gene variants. Eye and visual problems are part of a broader pattern of developmental delay and hypotonia.
Clinical and ocular features
Children often present with feeding difficulties and delayed milestones.
- Strabismus, nystagmus, and refractive errors in many patients
- Possible cortical visual impairment contributing to reduced responses
- Seizures, intellectual disability, and sleep disturbances are common
- Diagnosis confirmed with genetic testing
Management
Supportive multidisciplinary care is required.
- Regular ophthalmic assessment to optimise vision and treat squint or amblyopia
- Neurology and developmental paediatrics for seizures and learning support
- Physiotherapy and speech therapy to aid motor and communication skills
- Family counselling and connection with rare-disease networks
