---
title: "Kearns-sayre syndrome"
description: "Kearns-Sayre syndrome is a mitochondrial disorder characterised by progressive external ophthalmoplegia, pigmentary retinopathy, and systemic involvement. Onset is usually before age 20. ## Ocular features Eye signs are often the first clue. - Bilateral ptosis and limited eye movements with…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/kearns-sayre-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Kearns-sayre syndrome

Kearns-Sayre syndrome is a mitochondrial disorder characterised by progressive external ophthalmoplegia, pigmentary retinopathy, and systemic involvement. Onset is usually before age 20.

## Ocular features

Eye signs are often the first clue.

- Bilateral ptosis and limited eye movements with preserved pupil responses
- Atypical salt-and-pepper pigmentary retinopathy
- Gradual reduction in visual acuity and night vision
- Due to large-scale mitochondrial DNA deletions

## Systemic issues and management

Patients require careful cardiac and systemic surveillance.

- Risk of heart block, ataxia, and endocrine abnormalities
- Pacemaker insertion may be lifesaving in conduction disease
- Ptosis surgery and prisms can improve visual function
- Genetic counselling and family assessment for mitochondrial disease