---
title: Pura syndrome
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/pura-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Pura syndrome

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