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
