---
title: "Smith-magenis syndrome"
description: "Smith-Magenis syndrome is a developmental disorder caused by 17p11.2 deletions or RAI1 variants. Eye and vision issues are common alongside behavioural and sleep difficulties. ## Ocular manifestations Children often present with refractive and motility problems. - Strabismus, refractive errors, and…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/smith-magenis-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Smith-magenis syndrome

Smith-Magenis syndrome is a developmental disorder caused by 17p11.2 deletions or RAI1 variants. Eye and vision issues are common alongside behavioural and sleep difficulties.

## Ocular manifestations

Children often present with refractive and motility problems.

- Strabismus, refractive errors, and sometimes nystagmus
- Mild ptosis or anterior segment anomalies in some cases
- Ocular signs may contribute to learning and communication challenges
- Diagnosis via chromosomal microarray or targeted genetic testing

## Management

Support is multidisciplinary.

- Regular eye examinations, glasses, and amblyopia therapy if needed
- Behavioural and sleep-management programmes
- Educational support tailored to cognitive profile
- Genetic counselling and family support networks