---
title: "Pitt-hopkins syndrome (pths)"
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/pitt-hopkins-syndrome-pths/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Pitt-hopkins syndrome (pths)

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