---
title: "Rothmund-thomson syndrome (RTS)"
description: "Rothmund-Thomson syndrome is a rare genomic instability disorder featuring poikiloderma, skeletal anomalies, and elevated cancer risk. Several eye problems can occur. ## Ocular features Photosensitive skin changes often begin in infancy. - Juvenile cataracts leading to reduced vision - Dry…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/rothmund-thomson-syndrome-rts/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Rothmund-thomson syndrome (RTS)

Rothmund-Thomson syndrome is a rare genomic instability disorder featuring poikiloderma, skeletal anomalies, and elevated cancer risk. Several eye problems can occur.

## Ocular features

Photosensitive skin changes often begin in infancy.

- Juvenile cataracts leading to reduced vision
- Dry eye and eyelid abnormalities from chronic sun-damaged skin
- Rare reports of retinal or optic nerve involvement
- RECQL4 gene mutations underlie most classic cases

## Management

Care focuses on surveillance and timely intervention.

- Early cataract detection and surgery to maintain vision
- Strict sun protection for skin and eyes
- Monitoring for osteosarcoma and other malignancies
- Genetic counselling for affected families